Mapping SNPs BCKDHA
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General
Maple syrup urine disease is an autosomal recessive disorder that affects the amino acid metabolism. The disease is caused by a defect in the branched-chain alpha-keto acid dehydrogenase complex which blocks oxidative decarboxylation. The result is a rising concentration of branched-chain amino acids. MSUD is caused by mutations in the gene coding for the alpha subunit of the branched-chain keto acid dehydrogenase(BCKDHA).
HGMD
Searching for "BCKDHA" a total of 39 mutations are reported, comprised of the following mutation types:
- missense/nonsense: 33 mutations
- small deletions: 3 mutations
- small insertions: 1 mutation
- gross deletions: 1 mutation
- complex rearrangements: 1 mutation
For us the missense/nonsense mutations are the most interesting ones, as a single nucleotide change can lead to the phenotype of Maple Syrup Urine Disease.
| Codon change | Amino Acid change | Codon number |
|---|---|---|
| gCAG-GAG | Gln-Glu | 80 |
| ACG-ATG | THr-Met | 106 |
| cCGG-TGG | Arg-Trp | 114 |
| gTAT-AAAT | Tyr-Asn | 121 |
| CGG-CAG | Arg-Gln | 122 |
| cCAG-AAG | Gln-Lys | 145 |
| ATC-ACC | Ile-Thr | 168 |
| GCG-GTG | Ala-Val | 171 |
| GCG-GTG | Ala-Val | 175 |
| cGGC-AGC | Gly-Ser | 204 |
| cGCT-ACT | Ala-Thr | 208 |
| TGC-TAC | Cys-Thr | 213 |
| cCGG-TGG | Arg-Trp | 220 |
| AAT-AGT | Asn-Ser | 222 |
| GGC-GAC | Gly-Asp | 238 |
| tGCA-CCA | Ala-Pro | 240 |
| aCGA-TGA | Arg-Term | 242 |
| cGGG-AGG | Gly-Arg | 245 |
| cCGC-TGC | Arg-Cys | 252 |
| CGC-CAC | Arg-His | 252 |
| tGGT-AGT | Gly-Ser | 255 |
| GAT-GCT | Asp-Ala | 257 |
| ACA-AGA | Thr-Arg | 265 |
| cCGA-TGA | Arg-Term | 269 |
| ATC-ACC | Ile-Thr | 281 |
| cGAG-AAG | Glu-Lys | 282 |
| gGCC-ACC | Ala-Thr | 283 |
| CGC-CAC | Arg-His | 301 |
| cCGG-TGG | Arg-Trp | 318 |
| TTC-TGC | Phe-Cys | 364 |
| cGTG-ATG | Val-Met | 367 |
| TAT-TGT | Tyr-Cys | 368 |
| cTAC-AAC | Tyr-Asn | 393 |
dbSNP
results for the SNPs search with BCKDHA:
-all: 742
-human: 371
SNPs in human
| ID | mutation in sequence | amino acid | pos |
|---|---|---|---|
| rs61736656 | ATTACTGGGATAAACAGGACCACCCC [A/G] TCTCCCGGCTGCGGCACTATCTGCT | Arg | 51 |
| rs1050647 | GCTGGGTGAGGGCACATTCAGGACTA [A/G] AAGCCCCTCTGGGCATGGGGTGGAC | Arg | 51 |
| rs11549938 | TCTCTGGAATCCCCATCTACCGCGTC [A/C] TGGACCGGCAAGGCCAGATCATCAA | Met | 51 |
| rs11549937 | ATCAACCCCAGCGAGGACCCCCACCT [C/G] CCGAAGGAGAAGGTGCTGAAGCTCT | Ser | 51 |
| rs3837930 | CTTGTCCGATTGAATACTACTAAATA [-/A] CGCAGGGATACACACATCTCTCCCT | Asn | 61 |
| rs2288872 | agagcaagactccgtctcaaaaaaat [A/G] taaaacaaaaTAAGCCAATACTGGA | Arg | 61 |
| rs76846304 | TGAGATCCTGTCTCAAAAAAAAAAAA [-/A] AGGAAATTGAAGTCAAAGAGGGAAG | Asn | 101 |
| rs74844919 | CAGGGTTTTTGTTTTGTTTTGTTTTT [-/T] TKTTTTTTCGAGGTGGAGTTTTGCT | Asn | 101 |
| rs79441216 | AGGGTTTTTGTTTTGTTTTGTTTTTT [G/T] TTTTTTCGAGGTGGAGTTTTGCTCT | Lys | 101 |
| rs72544848 | TTTTGGGGCACAGCTAGATCCAGGGG [-/C] GTCTTCCAGGCAGGAAGTAGAGGGA | Asn | 101 |
| rs79327728 | TCCCGAGTAGCTGGGATTACAGGCAT [A/G] CACCACCATGCCTGGCTAATTTTGT | Arg | 101 |
| rs72544849 | AGTATGGACCAGAGGATGTGRGGGGG [-/G] GAGCTGTGTGGTGTCTTGAGGCAGG | Asn | 101 |
| rs75568330 | TTTTTTTGACTTGCCCTAATCTTAGG [-/A] GTATTTACTTGTGTGGAGAGATGCA | Asn | 101 |
| rs77987454 | CTAGCCTTCAGTTCAGGGCATGATTT [A/G] GAGCAAATGTTCAGTATCTGTTTAA | Arg | 101 |
| rs75747655 | TATGGGATAGGTGTTAACTGTTTTCA [C/T] CCCAGTTTTTCAGATGGGGAAACTG | Tyr | 101 |
| rs75610485 | TCGCAGCTCACTGCAGCCTCCTTCTC [C/T] CAGCTTCAAGCAATTCTCCTGCCTC | Tyr | 101 |
| rs75905923 | TGGAGTACAATGGCACGATCTCGGCC [C/T] ACTGCAACTTCTGCCTCCCAGGTTC | Tyr | 101 |
| rs76715304 | CACTGAAGTATGGACCAGAGGATGTG [A/G] GGGGGGAGCTGTGTGGTGTCTTGAG | Arg | 101 |
| rs75348131 | CCCAAGCTGGAGTGCAGTGGCACGAT [C/T] TCGGCTCACTGCAACCTCCACTTCC | Tyr | 101 |
| rs78441720 | CTATGGGATAGGTGTTAACTGTTTTC [A/T] TCCCAGTTTTTCAGATGGGGAAACT | Trp | 101 |
| rs77449630 | CTGCCATTGGGAGTGTAATTTCCTCA [C/G] GACTACAAATGCAAATAAATACACA | Ser | 102 |
| rs79447197 | ACCTCTCTTTCCTTTTTCTTTTTTTT [C/T] CTTTTTTGAGACAGAGTTTCACTCT | Tyr | 102 |
| rs74372796 | AAGTGAGACCTGCTCAGCCCACCCCC [A/C] CCCATCCTCAGCTACCCCGAGAGGT | Met | 102 |
| rs76878345 | TAATTTTTAAAATTTTTTGTAGAGAT [C/G] TGATCTCAGGCTGGTCTTGAACTCC | Ser | 102 |
| rs75733136 | AGGCTGCAGCCAGGACCCCGAGGGCT [G/T] GACCCTGTTCCATTTTCAGCACGGA | Lys | 102 |
| rs78393603 | ATGTAAATGCCACCATTCCCAGCTAA [A/T] TTTTTTTTTTTTTTTTAGATAGAGT | Trp | 102 |
| rs75969121 | CAGGCTGGTCTTGAACCTGAGTTCAA [C/G] TGATCTGCCCACCTTGGCCTCTCAA | Ser | 102 |
| rs79430127 | ACATGTAAATGCCACCATTCCCAGCT [A/T] ATTTTTTTTTTTTTTTTTAGATAGA | Trp | 102 |
| rs77558911 | AAATTTTGGGTAGATAGATTTTTTTT [C/T] CTCCAAATCTCTGTGCATTCTATCT | Tyr | 102 |
| rs284656 | TGTGTCCTGGCTCTGTGTCCTTGGCA [C/T] GTTGCCCTCCACTTCCTTGTCTTTG | Tyr | 157 |
| rs116827405 | ATGAGATTTGAGTGGGGACAGAGACA [A/G] ACCATGTCAGTGTGTATTGTGGGAT | Arg | 201 |
| rs4803463 | CAATCATGAGAAATACTTACTCACTA [C/G] TTGTGTTTATGAAACattatgtgcc | Ser | 201 |
| rs114279979 | TCAGACACATCCACCTGCTCCTCTCC [C/T] GCCTCCCTCTGCTACCAAGCTGGGC | Tyr | 201 |
| rs79041147 | TTTTGGGGCACAGCTAGATCCAGGGG [C/G] TCTTCCAGGCAGGAAGTAGAGGGAA | Ser | 201 |
| rs4803464 | GAGCCCCAGCCAGACTGCTTGTCAGA [A/G] Ccctgcttggcttctcgccctggat | Arg | 201 |
| rs77124294 | TTTTCACATCTTGAGGCACTGAATGG [C/T] TTACAAATCCAACTCTAATTTTTTA | Tyr | 201 |
| rs12327776 | TGTGAGTTAACTTAGCAACTTTTCAC [A/G] TGGTGTTCTGCAGccttcttacaga | Arg | 201 |
| rs114716391 | CTCACCACCCTCTCATCCCCTGCAGC [G/T] GTGGGGGCGGCGTACGCAGCCAAGC | Lys | 201 |
| rs117300044 | AGCCCAGGAGTTCAAGACCAACCTGG [A/G] TGACATCGTGAGACGCTGTCTCAAT | Arg | 201 |
| rs112542121 | TGCTGTTATTTGGTTCATAATGATGA [-/TT] TTTTTTTTTTTTTTCGAGACAGGGT | Asn | 201 |
| rs118171954 | TTGCCTGATTTTCACCTCCCTTCCTG [C/T] CTCTGTTATCATAGCAGACGTTTTA | Tyr | 201 |
| rs116647608 | GAGTGCAGCAGCATGATCTTGACTTA [C/T] TGCAATCTCTGCCTGCCGAGTTCAA | Tyr | 201 |
| rs76458824 | TAGTCCCGGCAGTTGCTGCCTGCGGG [A/G] GATTGAGACCTCTGTTAACAGAGGA | Arg | 201 |
| rs1473248 | AAGAAGGTCCAAGGGACTGATACAGG [A/G] CCTTGGAATCAGGCTTTCTCAGAAT | Arg | 201 |
| rs118051219 | AGAGAGCTCCCTCTGAATAATGTTCC [C/T] GGTCTGAGTGCTTGCAGCATTGATC | Tyr | 201 |
| rs114843826 | GGTAAGAACCTGAGTCAACAAAGGTG [A/G] GGTCATGGGCCCAGGCCACATTCTC | Arg | 201 |
| rs10406198 | CTGGCAGTTCTAAGCAGTCTGGCAGC [A/G] TCTTCTTAAAGGCAGGAACCCCAGC | Arg | 201 |
| rs80014754 | CTCTGCTCTCTTCCCCAGCACCCCCC [A/C] AGGCAGCAGCAGCAGTTTTCATCTC | Met | 201 |
| rs115268914 | CTCTCTCGCCTAGGCTGGAGTGCAGC [A/G] GCATGATCTTGACTTACTGCAATCT | Arg | 201 |
| rs114008162 | GGATGTCTAGGAGCCTGAATCTCAGC [A/G] TTGGAAGCCCAGTTCTGATGTAATT | Arg | 201 |
| rs79985915 | CTATAGGTAAGACTTGCCCTAATCTT [C/T] TTTTTTTTTTTTTTTTTGACTTGCC | Tyr | 201 |
| rs77667400 | CTGCCGCTTTCCACTTGTGTAGCCTT [G/T] GCCAACGGACTGCACTTCTCTGGAT | Lys | 201 |
| rs55940366 | GCTGTGGCAGAGAACCAGCCCTTCCT [C/T] ATCGAGGCCATGACCTACAGGTGCC | Tyr | 201 |
| rs114160048 | GAGGGGGCATTTAGGGGGCATTTGAG [C/T] TAAAGGTAATAGGGTTTCCACAAGG | Tyr | 201 |
| rs78664582 | GCTCTATAGGTAAGACTTGCCCTAAT [C/T] TTTTTTTTTTTTTTTTTTTTGACTT | Tyr | 201 |
| rs78994114 | AGTCCCGCAGGAAGGTGAGGGTGCCC [C/T] GCCCGGGAGGGTGTGCTGGGGGCTG | Tyr | 201 |
| rs112312448 | GGGCTGTGGCAGAGAACCAGCCCTTC [-/C] TCATCGAGGCCATGACCTACAGGTG | Asn | 201 |
| rs117961146 | CCGCCTCTCCACCAGCCTGTGAGGTG [A/G] ATGCCATCCCCACGAGGGCACGCAG | Arg | 201 |
| rs2241710 | GGCACCCCAGTGTGCTCCACATACTG [C/G] AGCTGGGTCTCGGCTGTACCCTCCT | Ser | 201 |
| rs114459633 | GGCGTAAGCCACTGCCCAGCATCCCC [A/C] CCTTTTTTTTTTTTTTTTTAAATTT | Met | 201 |
| rs113901068 | CGAGTTCAAGCAATTCTCCTGCCTCA [A/G] CCTCCCTAGTAGCTGGGATTACAGG | Arg | 201 |
| rs117950460 | GAGAAATGTATTAATAATACTTTAGT [C/T] CCGGCAGTTGCTGCCTGCGGGAGAT | Tyr | 201 |
| rs115971313 | CCGTGGGTCATGTGAGTGTGAATGAG [C/T] GTGAGTGCATGTGAGTCTCCGCCCC | Tyr | 201 |
| rs117379765 | ACGGGAAAGCCAGGCCTGGGAACACA [G/T] GGAGGAGGGCACCGCCGAGCCGCGA | Lys | 201 |
| rs114198932 | TTCCTTTTCTCTTCTCTTTTCTCTCT [C/G] TCTTTCTTTCTGTACCTCTCTTTCC | Ser | 201 |
| rs115211514 | GAAGCGTATGTAGCAGTTTGCCAGGC [A/G] ATAGGGAAAGAGACCTTCTTGTAAA | Arg | 201 |
| rs75023451 | AGAGCGGGCAGGTTGTGCTTTCCTGC [A/G] TGGTGGGAGAGGACGTGGCATGAAG | Arg | 201 |
| rs78727437 | GTCTGTGCTCCAGACTTCTTCTTCTT [A/G] TTTTTTTCTTTTTTGAGACGGAGTC | Arg | 201 |
| rs79568656 | TCACAGGCTGCATAGGGCCTTGTATT [C/T] CTTTGCTCCTTTGCCACAATTCTGA | Tyr | 201 |
| rs77623540 | TCCTGCCAGAGCTGCGGCAGGTGCTT [C/T] CCCCGCCTCTCCACCAGCCTGTGAG | Tyr | 201 |
| rs62637712 | CTCCTCTGCTCTCTTCCCCAGCACCC [C/G/T] CCCAGGCAGCAGCAGCAGTTTTCAT | B | 201 |
| rs111950596 | AGGAGTTTGATACCAGCCTGGGCAAC [A/G] TGGCGAGACCCCCATCTCTAAAAAA | Arg | 201 |
| rs78673509 | AAATAGACAGGTTTGCTTCAGTCCGG [A/G] ATGCAAGGACCTAGAGGGTGTGTGT | Arg | 201 |
| rs117030761 | GGCCCCACATGCTCTAGGAGGGCAAA [C/T] GCCCTGTGGTGTTTGTCTAAGGTCT | Tyr | 201 |
| rs116993920 | CAGGCTAGAGTGCTATGGCGCAATCT [C/T] GGCTCACTGCAACCCCCACCTCCCG | Tyr | 201 |
| rs114278248 | GCTACCAGTTATTGACTTGCCAGCCA [C/T] TTGATTGAGTCATTTAACCTCACAA | Tyr | 201 |
| rs75557216 | CCAGGCCTGAATCTGCCCTGCCATTG [C/G] GAGTGTAATTTCCTCACGACTACAA | Ser | 201 |
| rs116948250 | ACTCTAGCCAAAGTGAGATCCTGTCT [A/C] AAAAAAAAAAAAAAGGAAATTGAAG | Met | 201 |
| rs75840909 | GGGTGGGGGTGCAGATGGTGCAGGTT [G/T] GGTGGGGCCTCAAGGCCTTTGCCTG | Lys | 201 |
| rs78924883 | CAGTATCTGTTTAACAAGAACAATCA [C/T] GAGAAATACTTACTCACTACTTGTG | Tyr | 201 |
| rs117989172 | TCTTTAAAAATTTTTTCTTTTTTTTT [C/T] CCTTGAGACAGGTCTTACTTTGTCA | Tyr | 201 |
| rs113649978 | TTCTATTTTTAGTGGGTACAGGGTTT [C/T] GCCATGTTGGCCACATTGATCTCGA | Tyr | 201 |
| rs79245900 | TAGCCCAGATTGGAGTGCAGTGGCAC [G/T] ATCTCAGCTGCCTGCAGCCTTGAAC | Lys | 201 |
| rs117069153 | TTTGTTTGATTCCTGTGTCTCTTGAT [C/T] GAATATCAAGACAGAGAATTCGTGT | Tyr | 201 |
| rs113934297 | CTAGGATTACAGGCGTAAGCCACTGC [-/CCAGCAT] CCAGCATCCCCACCTTTTTTTTTTT | Asn | 201 |
| rs76070674 | TTTCAAACTACATCCAGAATCTCATC [A/C] CCTCCACTACTCCTGCTCTGGCTGG | Met | 201 |
| rs77949523 | TTTTTTGTGTGTGTGGCAGGGTCTCT [A/G] TTGCCCAGGCTGGGATGTGTTGGTG | Arg | 201 |
| rs117817570 | GTGCAGTGGCACGATCTCAGCTGCCT [A/G] CAGCCTTGAACTTCTGGGCTGAAGC | Arg | 201 |
| rs114502373 | TGTCCTGTCCCTGCCCTTCTCTGTGC [A/C] TCAGTTTCCTCATTGCTTAGCTGTC | Met | 201 |
| rs2288870 | CCTTTAGCTCAAATGCCCCCTAAATG [C/T] CCCCTCCTCTGAGAAAGCTTCCCTG | Tyr | 201 |
| rs10404506 | ATCTCCTCTCCACTGGCCACGCAGAT [C/T] CCTCAGGGTGAGGATGCATGCCCTG | Tyr | 201 |
| rs113733825 | TGAGCATTTATAGGCTTCTCACAGGT [-/CTC] CTGGGCTTTCTCAGCCATTCCTCAT | Asn | 201 |
| rs115015681 | ATACCTGTATGAGCACTTTGGGAGGA [C/G] GATTGCTTGAGCCCAGGAGTTCAAG | Ser | 201 |
| rs114481527 | CTCACTATGTTGCCTAGGCTGATCTC [A/G] AACCACTGGCCTTAAGTGATCCTCC | Arg | 201 |
| rs112156740 | TCTGCCCCTCCTCTCATTCTCAGAGA [C/T] AGTTACAAAGATGGAACTATCTTCT | Tyr | 201 |
| rs74586298 | ACACTGACCTGGGGCCCCTTGCCCCT [A/G] TGCAGGATCGGGCACCACAGCACCA | Arg | 201 |
| rs11671704 | TGTGCTGAGCACTGCACCTGTTTTTG [C/T] TGAAGGGTTCTCTTGTGAGGGCACC | Tyr | 201 |
| rs117396977 | CCCCCTCTTCACCTGTTGTTACAGTG [C/T] CTTCTCCCAGGGGCTGGGTGAGGGC | Tyr | 201 |
| rs117196001 | TATTATATTTAATACACCAATAGTGC [A/G] AGGCCTTTATTGGTAGTACTCTCCT | Arg | 201 |
| rs79740365 | CTGTTTCTATCTGTTACATATGCAGC [A/C] CAGCCACATCTTGTGTGGATTTGTA | Met | 201 |
| rs114320868 | GTGAAAGATCCACCCCCATAATTCAA [A/T] TACCTCCCACTGGCTCCTTCCCACA | Trp | 201 |
| rs114191970 | CTTTGCCTGTTACAGGAGTAACTACA [A/G] TGAGGCGATTGGAGAAAATTTTGGG | Arg | 201 |
| rs114178789 | GAACTGTCCCCCTGTACTGCCCACTC [A/G] GCTAACCATTGCCTCCTCCCCTCCT | Arg | 201 |
| rs116710207 | ATTTGCTCTTGTTCCTGTTTTCAAGA [A/G] CAGGATGCCCGTGTTTTGTGTGTGT | Arg | 201 |
| rs115062082 | TTTTGTAGAGATGTGATCTCAGGCTG [A/G] TCTTGAACTCCTGGGCTCACCTGGG | Arg | 201 |
| rs10421626 | GAAGCCCCTCTGGGCATGGGGTGGAC [A/G] TGGCAGGTCAGCCTGTGGAACTTGC | Arg | 201 |
| rs115313500 | ATGGTGCAGGGTTTTTGTTTTGTTTT [G/T] TTTTTTGTTTTTTCGAGGTGGAGTT | Lys | 201 |
| rs115280847 | ACTTATTCAGTATAATGAGAACAGCA [C/T] GTGAAAGATCCACCCCCATAATTCA | Tyr | 201 |
| rs112907023 | TTTTTCAGAGACGAGGGTTTTGCCTA [A/G] GCTGGACTCACTATGTTGCCTAGGC | Arg | 201 |
| rs75551567 | GCCGCTTTCCACTTGTGTAGCCTTGG [C/G] CAACGGACTGCACTTCTCTGGATCT | Ser | 201 |
| rs284648 | CTAGATCAGGCTACAGGCCCCGGAGG [A/G] CAGGAAGGGGCTCCGATTCCTTGTT | Arg | 201 |
| rs118080024 | ATATTTCTTTTTTTTTTTTTTTTTTA [C/T] TTTTGAGATGGAGTTTTGCTCTTGT | Tyr | 201 |
| rs116309564 | CATCTCTGCGCCTGGCTCTCTACCAC [C/T] TCTGGTCTTTGTTTCCTGGAGTTTG | Tyr | 201 |
| rs79955062 | GGATTTGTATTATGTCCATTCAAAAG [C/T] ATGTGTCAGAAAATACCAGTAAACC | Tyr | 201 |
| rs116023298 | GAAAGAAGAGAACAGGTCCCTGTCAC [A/C] GGCTGCATAGGGCCTTGTATTTCTT | Met | 201 |
| rs117607126 | CGCCTGGCTAATTTTTGTATTTTTGG [C/T] AGGGACGAGGTTTCACCATGTTGTC | Tyr | 201 |
| rs115930134 | TATAGGGATCAGAAGAGAGCTGGTCT [A/G] TATGCCTAGAGGGCATCCTGCAGTG | Arg | 201 |
| rs116221568 | TAATAGGGTTTCCACAAGGCTGGGGC [A/G] TGGCCCTAACCTTCCCTCTGGGTCC | Arg | 201 |
| rs114587707 | AGCCCCGAATCTAGCCTACGTGAGTG [C/G] CGGACCGCTGAGTGGTTGTTAGCCA | Ser | 201 |
| rs117815282 | AGGCGTAAGCCACTGCCCAGCATCCC [C/T] ACCTTTTTTTTTTTTTTTTTAAATT | Tyr | 201 |
| rs111259136 | GCGCCGGGCTGGGCCATCCTCCTGGG [C/T] GTCCGCACGTGGCTTAGCGTTTACC | Tyr | 201 |
| rs75448330 | TCCACCTGCTTGCCCACACCAGAAAC [C/G] TCATCTCATCCCTGTCTCCTCCCTC | Ser | 201 |
| rs115695485 | CCAGGCTTTCTTCTCTTGCCTTGGAG [C/T] CTTGGTTTTTCCCTAGGACTGAAGT | Tyr | 201 |
| rs13343330 | CGAGGCCATGACCTACAGGTGCCTGC [C/T] GCTCCCCCCGTCAGCACCCCCACAG | Tyr | 201 |
| rs112835313 | CCAGCTAATTTTTTTTTTTTTTTTTA [G/T] ATAGAGTCTCACTCTTGTCACCCAG | Lys | 201 |
| rs111992248 | CTCTATAGGTAAGACTTGCCCTAATC [-/TTTT] TTTTTTTTTTTTTTTTGACTTGCCC | Asn | 201 |
| rs115099615 | TCCCTTTGAGCATTTATAGGCTTCTC [A/G] CAGGTCTCCTGGGCTTTCTCAGCCA | Arg | 201 |
| rs10407077 | TCCACTCCTCCTTCCCTAGTTCATCC [C/T] CCATCCTCCCTCCTGACCCCCACTC | Tyr | 201 |
| rs77637491 | TCCTGTTTCTATCTGTTACATATGCA [C/G] CACAGCCACATCTTGTGTGGATTTG | Ser | 201 |
| rs115611992 | GGGGGACTCAACTCTTTGCTCTGTTT [C/G] AGGGCAGAGTGCCTTTGAGCTCAGG | Ser | 201 |
| rs78878158 | CTCTAAAATACTCAGCGGCCAGGGCG [C/G] CTGCCACTCTTCACCCCTGCTCCTC | Ser | 201 |
| rs10410801 | ATCCAGTCAAGCCAGTGTCAACAAAG [A/C] GGGAAGTTATTGACTCCAATGACCA | Met | 201 |
| rs114054661 | TTGGCCTCCAAAAGCATGAGCCACTG [C/T] GCCTAGCCTTTTCTTTTTTTGAGAC | Tyr | 201 |
| rs114855860 | AGGTGGATGCCATCCCCACGAGGGCA [C/T] GCAGGTTCACAGAGACTGGCTCCTG | Tyr | 201 |
| rs78460242 | TAATGTTTTGATTTTTTTTTTTTTTT [G/T] TAGAAGCGAGGCCTCACCATGTTGC | Lys | 201 |
| rs117138963 | TTTCACCTCCCTTCCTGTCTCTGTTA [A/T] CATAGCAGACGTTTTAGTGCTCAGG | Trp | 201 |
| rs117316804 | AAATACACGAAGTTCCTGCCATGTGC [C/T] GGTGCCACTCCAAGTGCAGGGAACA | Tyr | 201 |
| rs9710116 | GTCTGGCACTTGGTCAGCCACAGGAG [C/T] TGAGGTCCTGAGCACTCAGCCTTGC | Tyr | 201 |
| rs75381316 | CCTAGTATCAGGGACAAGGATCCAGT [A/C] AAGCCAGTGTCAACAAAGAGGGAAG | Met | 201 |
| rs11671665 | AAGATTTCCAGACACCAGGCAGCAAG [C/T] TGGGCCCCCGCCAGCTGTGCTGAGC | Tyr | 201 |
| rs118107394 | ATGGACCAGAGGATGTGAGGGGGGAG [A/C] TGTGTGGTGTCTTGAGGCAGGTGTG | Met | 201 |
| rs78570624 | CGAACTCCTGACCTCAAGTGAGATTC [C/G] CCTGCCTCTGCCTCCTAAAGGCAGT | Ser | 201 |
| rs75018879 | CCAGTGGTGTTGCCTCATTGAGGCAC [C/G] TCCCCCATCCATGTGAGGCAGGAGA | Ser | 201 |
| rs75757179 | AGAGATGCAGTGAGGTAGCGGTGGGG [A/G] TGTATTTCTCAACCCAGCGCAATGA | Arg | 201 |
| rs78812877 | GAGTGGTTAATTCCTTGCCAAGGCCC [C/T] GCAGGAGGAAGCAGGGTCCTGCATG | Tyr | 201 |
| rs116080069 | CTGTCTCTGCCTTCCTGGGATTGTGG [C/T] GTGTGTGGGAGACAGACACGAAACA | Tyr | 201 |
| rs76383353 | CGCTAGAACTGTGGACAGCTTGTTCA [C/T] TGCAGTTAAAGGAAGACGGAGGGAC | Tyr | 201 |
| rs7258787 | TGTAGTCCAGAAGTTGTAAATTAGTG [G/T] TCTATGCTGTTATTTGGTTCATAAT | Lys | 201 |
| rs16975216 | CCTAGCTAGTGGGGTGAATAGAGTCC [A/C] TACCCTGTTGGAAGTCAGGAAGCCC | Met | 201 |
| rs75452443 | GTTAGGGGATTTGGGAGAAGGGAACT [G/T] GGCACTGGTGTGGCCAGCTGACAGG | Lys | 201 |
| rs74512011 | GCAAGGGAGGCCAGGGACCTGAGTGC [G/T] TGTCTTTTTGAGGCTCAGGTTAGGG | Lys | 201 |
| rs112502758 | TGGTGCAGGGTTTTTGTTTTGTTTTG [-/T] TTTTTTGTTTTTTCGAGGTGGAGTT | Asn | 201 |
| rs78812076 | GAGGGTGGAGGGAAGGGACAGAAACT [A/G] ACCTTGGAGATGGGGAGAAGAAAGG | Arg | 201 |
| rs75694368 | CCCCTGATAAATCCTAGTATCAGGGA [A/C] AAGGATCCAGTCAAGCCAGTGTCAA | Met | 201 |
| rs114910270 | CTAATCTGCACGCCTTTCCCTTCTCA [C/T] GAGATATTCTGGGAAGGGGGACTCA | Tyr | 201 |
| rs284650 | CACTTCAAATACACGAAGTTCCTGCC [A/G] TGTGCCGGTGCCACTCCAAGTGCAG | Arg | 208 |
| rs57341563 | GTGGGGCAGGAGGTGGGCAGGACTGG [A/G] GCAGGCTAGGGAAAGGTCATTTATG | Arg | 223 |
| rs55748223 | TCACTTTTTTTTTTTTTTTTTTTTTT [-/T] GAGCAGTTCATATCCTCCACAGCTG | Asn | 223 |
| rs4802116 | TGTTTTTTCCCCTTTATTTCTCCCAC [C/T] TGTTCTTTctctcttcttctttctt | Tyr | 226 |
| rs56189158 | AACTCTTTGCTCTGTTTGAGGGCAGA [A/G] TGCCTTTGAGCTCAGGAGAGAGTGG | Arg | 247 |
| rs10426536 | tatcactttgttgcccaggctggagt [A/G] caatggtgcagtcatggctcactgc | Arg | 250 |
| rs111855817 | TGCCCTCCTGCTGCTGCGGCAGCCTG [A/G] GGCTCGGGGACTGGCTAGATCTGTG | Arg | 251 |
| rs3810175 | TGTCTCTTGATCGAATATCAAGACAG [A/G] GAATTCGTGTGTTCTGGACACTGTA | Arg | 251 |
| rs3810174 | AGGCTCCTTGGAGGAACAGGGGAAGA [C/T] CGCAAGACCTTCTCCCTCAGGGTTT | Tyr | 251 |
| rs71334984 | TTTTGAGATGGAGTCTCGCTCTGTTG [-/C] CCCAGGCTGGAGTGCAGTGGCGCGA | Asn | 251 |
| rs76230844 | TTTTTTGACTTGCCCTAATCTTAGGG [A/G] TATTTACTTGTGTGGAGAGATGCAG | Arg | 251 |
| rs28940288 | ACTTCGGCGAGGGGGCAGCCAGTGAG [A/G] GGGACGCCCATGCCGGCTTCAACTT | Arg | 251 |
| rs60715253 | GGGCCTGTAGCCTGATCTAGGGTTGG [C/T] CTGGGCCCTGGCTTCTTTGCCCTAG | Tyr | 251 |
| rs111705372 | GCACTGGTCCTCACCGATGCCCTTCC [A/G] TGGTGGAACAGGTGCTTCCTTTGGG | Arg | 251 |
| rs113111906 | TTTTTTTTTTTTTTTTTTTTTTTTTT [C/T] TTGGTCTGAGACGGGGTTTCACTCT | Tyr | 251 |
| rs62117494 | CATGGGGTTTCACCATGTTGGCCAGG [A/C] TGGTCTCAGCCTCCCGAAGTGTTGG | Met | 251 |
| rs62117493 | AGACAGCATGTTGCTCTGTTGCCCAG [A/G] CTGGAGTGCAGTGGTGTGATCATGG | Arg | 251 |
| rs62117495 | TTTGTAGCCCAGATTGGAGTGCAGTG [A/G] CACGATCTCAGCTGCCTGCAGCCTT | Arg | 251 |
| rs73931473 | TTCTGATTTTAAAATGAATTGTGTAA [A/G] AAATTTGTTTGATTCCTGTGTCTCT | Arg | 251 |
| rs73931479 | CCCCTACCTGTGTTTGGGCCAAAGGA [A/G] TGGCTCCCAAGGAGGACAGATTCTT | Arg | 251 |
| rs73931475 | AGGTGAGGTCTGAACTTGGAGCTCTG [C/G] ACTCCAAAACCCAGTTTCTTTTCAT | Ser | 251 |
| rs73931477 | AGACTCTGGCCTCCCCTCTTAGTGCC [C/T] GTCTGAAGACTTCAGCCTTCGGTCC | Tyr | 251 |
| rs137852872 | GCCCAAACCCAACCCCAACCTACTCT [G/T] CTCAGACGTGTATCAGGAGATGCCC | Lys | 251 |
| rs137852873 | TTGAGTGCCCCATCATCTTCTTCTGC [C/T] GGAACAATGGCTACGCCATCTCCAC | Tyr | 251 |
| rs137852870 | GCCACCTGCAGACCTACGGGGAGCAC [A/T] ACCCACTGGATCACTTCGATAAGTG | Trp | 251 |
| rs137852871 | GTGTCCCCACAGCAGCACGAGGCCCC [A/G] GGTATGGCATCATGTCAATCCGCGT | Arg | 251 |
| rs137852876 | CTTGAGTGCCCCATCATCTTCTTCTG [C/G] CGGAACAATGGCTACGCCATCTCCA | Ser | 251 |
| rs137852874 | CAGCCAGTGAGGGGGACGCCCATGCC [A/G] GCTTCAACTTCGCTGCCACACTTGA | Arg | 251 |
| rs137852875 | TGATGTGTTTGCCGTATACAACGCCA [C/G] AAAGGAGGCCCGACGGCGGGCTGTG | Ser | 251 |
| rs71181107 | TCATAATGATGATTTTTTTTTTTTTT [-/T] CGAGACAGGGTCTTGCTTTGTAGCC | Asn | 251 |
| rs7257117 | AGCCAAGCCAGCCGGGTGTGGTGCAC [C/T] GTAGGGGTGGCTGGGGTCCGTCACT | Tyr | 251 |
| rs71181106 | TTTTTTGTATTTTTAGTAGAGGCGGG [-/G] TTTCACCATGTTAGCCAGGATGGTC | Asn | 251 |
| rs71181108 | CTCCTGACCCCCACTCCAGGGAGCCC [-/C] ACACTGACCTGGGGCCCCTTGCCCC | Asn | 251 |
| rs71181105 | AGGGTTTTTGTTTTGTTTTGTTTTTT [-/T] GTTTTTTCGAGGTGGAGTTTTGCTC | Asn | 251 |
| rs3786553 | CCTCCACCCTCCCACCCCCACCCCCC [A/C] CACACACACCCTCTAGGTCCTTGCA | Met | 251 |
| rs11879090 | GTGCTTCCTGGAGTGCTCCAGGGGAC [C/T] GCCCTAGGCCCATGTGAAATGGGCT | Tyr | 251 |
| rs8108664 | TTGAGGCGGCGCCTCAGCTACCACCT [A/G] TCTTTGATGGAGTTATGATAACAGT | Arg | 251 |
| rs112381655 | GCGCCGAGCCCACGTGCGGCTGCAGT [A/T] GTCACTTCCGCCTGGCAGCGCGCGC | Trp | 251 |
| rs61737367 | TCCACGCCCACCTCTGAGCAGTATCG [C/T] GGCGATGGCATTGGTATGGGCTCTG | Tyr | 251 |
| rs59777247 | CATTGAATACCCTGCTGCCCTGCAGA [C/T] GTGTTTGCCTGATTTTCACCTCCCT | Tyr | 251 |
| rs73047262 | TTTTCTCTCTCTCTTTCTTTCTGTAC [C/T] TCTCTTTCCTTTTTCTTTTTTTTTC | Tyr | 251 |
| rs112929552 | CCGCTTTCCACTTGTGTAGCCTTGGC [A/C] AACGGACTGCACTTCTCTGGATCTA | Met | 251 |
| rs111838742 | CAGAGCAAGACTATCTCTTAAAAAAA [A/G] AAAAAAGCTGGTTTGAGGATTAGGT | Arg | 251 |
| rs73931480 | CAGGGTTAGGACTCTGGAGGGGGCAG [A/T] CTTCCCACTCTGAAGGCCAGAAAGT | Trp | 251 |
| rs73931484 | GCAGACAGGATGGGGGTGGGGGGGTC [C/T] TCCAGAGATGGTCTCCTGCTCTCTC | Tyr | 251 |
| rs73931482 | CTAGTAAGGAGGCTGCTCAGTAACTT [C/G] GGCTTGACCAGGGTGGTGCAGAGGA | Ser | 251 |
| rs73931483 | CTGGTTCTCGTCCTGTGTCCTGTGGC [A/G] TCTGGCACTTGGTCAGCCACAGGAG | Arg | 251 |
| rs10425437 | gctttgtagcccagattggagtgcag [C/T] ggcacgatctcagctgcctgcagcc | Tyr | 255 |
| rs17173144 | TTGTTAGCCAAGATGGCGGTAGCGAT [C/T] GCTGCAGCGAGGGTCTGGCGGCTAA | Tyr | 260 |
| rs2241711 | ATTCAGTGAGCTATGCAAAGGGCTCC [A/G] CGCTGTGCCTGGTCCTGAGGAAATG | Arg | 268 |
| rs11672345 | AGAGACTGGCTCCTGTCCAAGGCCGC [A/G] TGGCTGGAAAGAGACAGAACCAGAT | Arg | 282 |
| rs10413735 | GTCTACTGCTCACAGCTGGACCAGGC [C/T] CTTGGCCCCACATGCTCTAGGAGGG | Tyr | 301 |
| rs34956071 | TAGGTGTGCTGATGTATCGGGACTAC [C/T] CCCTGGAACTATTCATGGCCCAGTG | Tyr | 301 |
| rs3213861 | TAGAAGGAGATCCGGCCCTGGGGGTG [G/T] AGAGGGGACCGGGGTCCCACAATTG | Lys | 301 |
| rs3213860 | GGGAAGACTGCCCCCTCCAGAGTCCT [A/G] ACCCTGGCTTGTCTCTTTCTTGCTT | Arg | 301 |
| rs35521052 | TCAGCGGCAGGTGCGTGGGGACAGGA [-/C] TAGGGGCGGGGGGCTGGAATTACCT | Asn | 301 |
| rs35085046 | GGGCAACGAGAGCAAGACTCCATCTC [-/A] AAAAAAAAAAATTAGCCAGGCGTGG | Asn | 301 |
| rs35214178 | GGCTGCCTAGCTCCAGAGCTAAGAGT [-/C] CCCAGTGGGTTCATATCCCTTTGAG | Asn | 301 |
| rs35024134 | CAACCTCCTGAGTAGCTGGGACTATA [-/G] GGTGCGTGCCACCACGCCTGGCTAA | Asn | 301 |
| rs34589432 | CCTCTGCTCTCTTCCCCAGCACCCCC [A/C] CAGGCAGCAGCAGCAGTTTTCATCT | Met | 301 |
| rs34978824 | GTCCCTTCCCTTATAAGAGCTTTTTT [-/G] GGGAAGCAAACCCACTGGGTGCCAG | Asn | 301 |
| rs35487663 | GCGTGGCCCTAACCTTCCCTCTGGGT [-/C] CCCTGCTAAGTCACTTCAAATACAC | Asn | 301 |
| rs3217386 | CTTCCCTCTACTTCCTGCCTGGAAGA [-/G] CCCCCTGGATCTAGCTGTGCCCCAA | Asn | 301 |
| rs3217385 | GGCAAGGGGCCCCAGGTCAGTGTGGG [-/G] CTCCCTGGAGTGGGGGTCAGGAGGG | Asn | 301 |
| rs12983789 | TCCTAACTCTGGCAACGCCATTGGAC [A/T] TTTGGGAACAGAAGGCAGGCCTTGG | Trp | 301 |
| rs34500671 | TCTGGCCGCGACAGCAGGTTCTGTTC [C/G] CAGGCAAAGTGCCGGAGGCTGCAGC | Ser | 301 |
| rs34492894 | GTGTATCAGGAGATGCCCGCCCAGCT [C/T] CGCAAGCAGCAGGAGTCTCTGGCCC | Tyr | 301 |
| rs36050387 | GGGTCCTCCAGAGATGGTCTCCTGCT [-/G] CTCTCACAGAATGGGAGAAGCCTGC | Asn | 301 |
| rs284654 | CAGTGATCGATATGAGGAAGATGCTA [C/T] GGTGGCTGTCAGTGCTGTGGGGGTG | Tyr | 301 |
| rs284655 | GGGGAGATGCAACATCAGGTGATAAG [A/G] CCATGTTTTGGAGACAGTGATCGAT | Arg | 301 |
| rs284652 | CACCTGTAGGTCATGGCCTCGATGAG [A/G] AAGGGCTGGTTCTCTGCCACAGCCC | Arg | 301 |
| rs284653 | CTATGGTGGCTGTCAGTGCTGTGGGG [A/G] TGCTGACGGGGGGAGCGGCAGGCAC | Arg | 301 |
| rs4674 | ATCTCCTGATACACGTCTGAGAAGAG [C/T] AGGTTGGGGTTGGGTTTGGGCTTCC | Tyr | 301 |
| rs6508977 | CTGGATGCCTTATGGGTTCAGTGAGC [A/G] CATAGGTGTAAATAAAGTGCTTTGA | Arg | 301 |
| rs34391204 | AAATTTTTCAGAGACGGGGGTTTTGC [C/T] TAGGCTGGACTCACTATGTTGCCTA | Tyr | 301 |
| rs284649 | ATGCATCTCAGCTGCCCTAGGGCAAA [A/G] AAGCCAGGGCCCAGACCAACCCTAG | Arg | 301 |
| rs34541442 | TAGCGATCGCTGCAGCGAGGGTCTGG [A/C] GGCTAAACCGTGGTTTGAGCCAGGC | Met | 301 |
| rs34933875 | ACAGGCGTGAGCCACCATGCCTGGCC [-/T] TTTTTTTTTTTTTTTGAGGTGGAGT | Asn | 301 |
| rs12459859 | ACTTTAGTCCCGGCAGTTGCTGCCTG [C/T] GGGAGATTGAGACCTCTGTTAACAG | Tyr | 301 |
| rs34919809 | TTGTGTGTTCAGTGTTTGTCATTCAT [-/C] CCCTCCCTGTCTCTAGCCTTCAGTT | Asn | 301 |
| rs10409485 | CGAGCACTGATAGGGCCAGGAAGGCA [C/T] ATCTTAACCCTTTGTCTTAGATGCT | Tyr | 301 |
| rs10853751 | TGGGCTCGGCGCGATGGAGGAGGAGA [C/T] GCATACTGACGCCAAAATCCGTGCT | Tyr | 301 |
| rs34107638 | CCTCTGGGTCCCTGCTAAGTCACTTC [-/A] AAATACACGAAGTTCCTGCCGTGTG | Asn | 301 |
| rs35547143 | TTATCTTCAATTTGAGGAGTATTTAC [-/T] GTGGGTGAAAGATCCGCCACAGTCC | Asn | 301 |
| rs34169026 | GGCCGCGACAGCAGGTTCTGTTCGCA [A/G] GCAAAGTGCCGGAGGCTGCAGCCAG | Arg | 301 |
| rs34442879 | GGGGAGTGCCGCCGCCCTGGACAACA [C/T] GGACCTGGTGTTTGGCCAGTACCGG | Tyr | 301 |
| rs4803465 | ggcgtgctcctttgcctcacctagtc [C/T] gtttctcagtgaagagcaccaccat | Tyr | 303 |
| rs2241706 | tagtgagtccagcctaggcaaaaccc [C/T] cgtctctgaaaaatttttaaattag | Tyr | 320 |
| rs10408639 | gaagcctcacaaacatggcggaaggc [A/G] aatgaggagcaaagtcacatcttac | Arg | 328 |
| rs13346233 | GCCCCACATGCTCTAGGAGGGCAAAC [A/G] CCCTGTGGTGTTTGTCTAAGGTCTA | Arg | 337 |
| rs10414106 | ACTGTCTACTGCTCACAGCTGGACCA [A/G] GCCCTTGGCCCCACATGCTCTAGGA | Arg | 337 |
| rs284658 | ACGGGCCCTGGGTCCTAATGACCGGG [C/T] CAGGGAGGGTGGCACACTGACTCTG | Tyr | 344 |
| rs11670583 | ACGTTCGCTGTGGGTGTGGCCTGTGC [A/T] GGAGACCCTGTCTGCCTGGTGCAGT | Trp | 349 |
| rs59991538 | ACAGACCTGAGTGCGGTGCAAGATTA [C/G] AGGGGCCCGGCAAGCCCAGATGAGT | Ser | 349 |
| rs11670668 | TGTGGCCTGTGCAGGAGACCCTGTCT [C/G] CCTGGTGCAGTGATCCCCTGGCCCC | Ser | 349 |
| rs58786677 | CATACAAAAATTAGCTTGGCATGGTG [A/G] TGCACACCTGTAATCCTAGCTACTC | Arg | 350 |
| rs1967333 | aaaaaaaaattagccaggtgtggtgg [C/T] gtgcacctgtggtcccagctattca | Tyr | 354 |
| rs2241707 | ccaggaaggctgggcgtggtggctca [C/T] gcctgtaatcccagcactttgggag | Tyr | 370 |
| rs12982607 | CCTGTAATCCCAGCACTTCGGGAGGC [C/T] GAGGCGGGAGGATTGCTTGAGCCCA | Tyr | 384 |
| rs57372161 | GTAATCCCAGCACTTCGGGAGGCTGA [G/T] GCGGGAGGATTGCTTGAGCCCAGGA | Lys | 387 |
| rs3061207 | TCTGATGTAAtttttttttttttttt [-/TTTT] tttgagacagggtctcactttgtcc | Asn | 388 |
| rs10424533 | tgttttgatttttttttttttttgta [A/G] aagcgaggcctcaccatgttgctca | Arg | 390 |
| rs2288871 | CATGTGTTCCCAGGCCTGGCTTTCCC [A/G] TTGCTGTGGGGGAAACTGATGAATG | Arg | 394 |
| rs10418291 | CTCATTCCCTCTGTCTGTAGATAttt [C/T] ttttttttttttttttttacttttg | Tyr | 397 |
| rs67617298 | GCGTGCCACCACGCCTGGCTAATTTT [-/T] GTATTTTTAGTAGAGATGGGGTTTC | Asn | 401 |
| rs35668703 | GAGCAAGACTCCATCTCAAAAAAAAA [-/A] AATTAGCCAGGCGTGGTGGTGCGTG | Asn | 401 |
| rs11300069 | AAGTGAGATCCTGTCTCAAAAAAAAA [-/A] AAAAGGAAATTGAAGTCAAAGAGGG | Asn | 401 |
| rs72026304 | CGTTTAAGCCATTGTGCCCAGCCCAC [-/TTTTTTTTTTTTTTTTTTTTTTTT] TTTTTTTTTGGTCTGAGACGGGGTT | Asn | 401 |
| rs66703155 | TTGGGGCACAGCTAGATCCAGGGGGT [-/C] CTTCCAGGCAGGAAGTAGAGGGAAG | Asn | 401 |
| rs72108665 | CAAGCCAGACTCTGTCTCAAAAAAAA [-/AAA] AAAAAAAAAAAAAAGGTAACTGCTG | Asn | 401 |
| rs67015245 | GATGTAATTTTTTTTTTTTTTTTTTT [-/TTTT] GAGACAGGGTCTCACTTTGTCCCCC | Asn | 401 |
| rs72119198 | GATATTTCTTTTTTTTTTTTTTTTTT [(LARGEDELETION)/-] TTTTTTTTTTTTTTTTTTTTTTTTT | Asn | 401 |
| rs16980932 | ATTGGAGAAAATTTTGGGTAGATAGA [-/T] TTTTTTTTCTCCAAATCTCTGTGCA | Asn | 401 |
| rs66596854 | CAGGCGTAAGCCACTGCCCAGCATCC [-/AGCATCC] CCACCTTTTTTTTTTTTTTTTTAAA | Asn | 401 |
| rs67557049 | GGAGACCTTTTCACTTTTTTTTTTTT [-/T] TTTTTTTTTGAGCAGTTCATATCCT | Asn | 401 |
| rs66801847 | CATAATGATGATTTTTTTTTTTTTTC [-/T] GAGACAGGGTCTTGCTTTGTAGCCC | Asn | 401 |
| rs10709558 | ccgctttccacttgtgtagccttggc [-/C] aacggactgcacttctctggatcta | Asn | 401 |
| rs892044 | GTAGGCTAGATTCGGGGCTGCCTCTT [C/T] ATGTGCCTGACGCAAACTCCAGCAC | Tyr | 401 |
| rs3214612 | CCTCAAGACACCACACAGCTCCCCCC [-/C] TCACATCCTCTGGTCCATACTTCAG | Asn | 401 |
| rs3214613 | TAGATCCAGAGAAGTGCAGTCCGTTG [-/G] CCAAGGCTACACAAGTGGAAAGCGG | Asn | 401 |
| rs72405314 | TCCTGACCCCCACTCCAGGGAGCCCA [-/C] CACTGACCTGGGGCCCCTTGCCCCT | Asn | 401 |
| rs66828714 | GTTATTTGGTTCATAATGATGATTTT [-/T] TTTTTTTTTTCGAGACAGGGTCTTG | Asn | 401 |
| rs72095217 | AGCCAAAGTGAGATCCTGTCTCAAAA [-/A] AAAAAAAAAGGAAATTGAAGTCAAA | Asn | 401 |
| rs72343230 | AGCCCAGTTCTGATGTAATTTTTTTT [-/TTTT] TTTTTTTTTTTGAGACAGGGTCTCA | Asn | 401 |
| rs34447852 | TGTGTGAGAGACAGCAAGTGAATGGG [-/A] AAAAAAAAAGTGCAGGAGCCTGGCC | Asn | 401 |
| rs67530835 | TAGGATTACAGGCGTAAGCCACTGCC [-/AT/CCAGCAT] CAGCATCCCCACCTTTTTTTTTTTT | Asn | 401 |
| rs11437195 | TGGTGGGTGGGGGTGCAGATGGTGCA [-/G] GGTTGGGTGGGGCCTCAAGGCCTTT | Asn | 401 |
| rs67031414 | GCAAGACTCCATCTCAAAAAAAAAAA [-/A] TTAGCCAGGCGTGGTGGTGCGTGCC | Asn | 401 |
| rs66865572 | CAAGACTCCATCTCAAAAAAAAAAAT [-/A] TAGCCAGGCGTGGTGGTGCGTGCCT | Asn | 401 |
| rs5828106 | taattttttgtatttttagtagaggc [-/G] gggtttcaccatgttagccaggatg | Asn | 401 |
| rs11307062 | CTCTAGCCAAAGTGAGATCCTGTCTC [-/A] AAAAAAAAAAAAAGGAAATTGAAGT | Asn | 401 |
| rs5828107 | agagcaagactccatctcaaaaaaaa [-/A] aaattagccaggcgtggtggtgcgt | Asn | 401 |
| rs71960526 | TGTCTGTAGATATTTCTTTTTTTTTT [-/TTTTT] TTTTTTTTACTTTTGAGATGGAGTT | Asn | 401 |
| rs11313402 | TGCCTTTGGGCTGGAGACCTTTTCAC [-/T] TTTTTTTTTTTTTTTTTTTTTGAGC | Asn | 401 |
| rs892043 | TCACGTAGGCTAGATTCGGGGCTGCC [C/T] CTTTATGTGCCTGACGCAAACTCCA | Tyr | 401 |
| rs10565264 | tcaccctctaagggattttttttttt [-/TTT] tttttttttgagatggagtctcact | Asn | 401 |
| rs284651 | GAGGGTAGGGGTGGCAGGAAGGTGGC [A/G] GGATTGGGGAGGGAAGGAGATGATC | Arg | 401 |
| rs66838098 | TCTCAAAAAAAAAAAAAAAAAAAAAA [-/AAA] GGTAACTGCTGTGTGTAATGTGATC | Asn | 401 |
| rs33988947 | AATTTTTTGTATTTTTAGTAGAGGCG [-/G] GGTTTCACCATGTTAGCCAGGATGG | Asn | 401 |
| rs67118441 | GCCCAGTTCTGATGTAATTTTTTTTT [-/TTTT] TTTTTTTTTTGAGACAGGGTCTCAC | Asn | 401 |
| rs67456786 | CCCTCCTGACCCCCACTCCAGGGAGC [-/C] CCACACTGACCTGGGGCCCCTTGCC | Asn | 401 |
| rs72316851 | ATATTTCTTTTTTTTTTTTTTTTTTA [-/TTTTTTTTTTTTTTTTTTTT] CTTTTGAGATGGAGTTTTGCTCTTG | Asn | 401 |
| rs67742179 | CCAAAGTGCTGGGGTTACAGGCGTGA [-/G] CCACCATGTGTGGCCGGGCAGGTGA | Asn | 401 |
| rs66601221 | TGCCCTAATCTTTTTTTTTTTTTTTT [-/TTTT/TTTTTT] GACTTGCCCTAATCTTAGGGATATT | Asn | 401 |
| rs67955137 | GGTGGGTGGGGGTGCAGATGGTGCAG [-/G] GTTGGGTGGGGCCTCAAGGCCTTTG | Asn | 401 |
| rs71922487 | CCCAGTTCTGATGTAATTTTTTTTTT [-/TTTT] TTTTTTTTTGAGACAGGGTCTCACT | Asn | 401 |
| rs10712417 | AAATTTTGGGTAGATAGATTTTTTTT [-/AAACA/T] CTCCAAATCTCTGTGCATTCTATCT | Asn | 401 |
| rs72299612 | GGGCAACAAGAGCAAAACTCCGTCTC [-/A] AAAAAAAAAAAAGAAAGAAAATTAG | Asn | 401 |
| rs45500792 | AGAGGCAGCCCCGAATCTAGCCTACG [G/T] GAGTGCCGGACCGCTGAGTGGTTGT | Lys | 401 |
| rs72449807 | GGTGCGTGCCACCACGCCTGGCTAAT [-/T] TTTTGTATTTTTAGTAGAGATGGGG | Asn | 401 |
| rs72428261 | TATGGACCAGAGGATGTGAGGGGGGA [-/G] GCTGTGTGGTGTCTTGAGGCAGGTG | Asn | 401 |
| rs71866052 | AGCCAGACTCTGTCTCAAAAAAAAAA [-/AA] AAAAAAAAAAAAAGGTAACTGCTGT | Asn | 401 |
| rs66517057 | CTGAAGTATGGACCAGAGGATGTGAG [-/G] GGGGGAGCTGTGTGGTGTCTTGAGG | Asn | 401 |
| rs58057017 | TTTTTTGACTTGCCCTAATCTTAGGG [-/A] TATTTACTTGTGTGGAGAGATGCAG | Asn | 401 |
| rs11307304 | TTCACTTTTTTTTTTTTTTTTTTTTT [-/T] GAGCAGTTCATATCCTCCACAGCTG | Asn | 401 |
| rs66530612 | ATATCACCCTCTAAGGGATTTTTTTT [-/TT/TTT] TTTTTTTTTTTTGAGATGGAGTCTC | Asn | 401 |
| rs11670757 | CTGGCTATGCTGGGTACTCAGAAGGG [G/T] GAAGCACTGTGCTGCAAGAGGCCGG | Lys | 404 |
| rs11670725 | CCTGCTGTGAAGGCAACCTGGACGCT [C/G] TCTCTGCCTTCCTGGGATTGTGGTG | Ser | 404 |
| rs28374474 | GATATTTCTTTTTTTTTTTTTTTTTT [A/T] CTTTTGAGATGGAGTTTTGCTCTTG | Trp | 416 |
| rs59885702 | GATATTTCTTTTTTTTTTTTTTTTTT [-/TTTTT/TTTTTTTTTTTTTTTTTTT/TTTTTTTTTTTTTTTTTTTT] ACTTTTGAGATGGAGTTTTGCTCTT | Asn | 416 |
| rs10418669 | ttttttttttttttttttacttttga [A/G] atggagttttgctcttgttgcccag | Arg | 424 |
| rs57096317 | GGGTGGCTGGGGTCCGTCACTGGAGT [A/G] ACACTGAAGTATGGACCAGAGGATG | Arg | 427 |
| rs11437196 | GTATGGACCAGAGGATGTGAGGGGGG [-/G] AGCTGTGTGGTGTCTTGAGGCAGGT | Asn | 462 |
| rs12709849 | gttgcccaggctggagtgcaatggca [C/T] gatcttggctcaccgcctccctggt | Tyr | 467 |
| rs11883104 | TGAGCCAAGATTGCGCCATTGCATTC [C/T] GGGCAACAAGAGCAAAACTCCGTCT | Tyr | 476 |
| rs10409251 | cacccccataattcaattacctccca [C/G] tggctccttcccacaacatgtggga | Ser | 483 |
| rs59076804 | GAGATCCTGTCTCAAAAAAAAAAAAA [-/A] GGAAATTGAAGTCAAAGAGGGAAGT | Asn | 488 |
| rs4803466 | TCGTTCCCTTTGTTATCTGGGTGCCA [C/T] CTCCTCTCCCTCCTCATCTTTCCCC | Thr | 500 |
| rs4803467 | aggttcaggtgattctcctgcctcag [A/C] ctccggagtagctggaattaaaggc | Met | 501 |
| rs4803469 | GAGGTTCAAGACTGCAGTGAGCTATG [A/C] TTCCACCACCGAACTCCAGTTTGGG | Met | 501 |
| rs10420556 | aagtgattctcctgcctcagcctccc [A/G] aatagctgggactactggcgtgcgc | Arg | 501 |
| rs4803468 | AAGCCAGGTAAGAACCTGAGTCAACA [A/G] AGGTGAGGTCATGGGCCCAGGCCAC | Arg | 501 |
| rs4803462 | CCTTGAATGTGCCTCCTCCCACCTGG [A/T] GGCCTTTGTAGGTATGAGGTCCTTC | Trp | 501 |
| rs10419188 | cccccaagtagctgggattacaggcg [C/T] ccaccaccacactcggctaattttt | Tyr | 501 |
| rs4802117 | CAGGTTCAAGCGATTCTCCTGCCTCA [A/G] CCTCCTGAGTAGCTGGGACTATAGG | Arg | 501 |
| rs4802118 | ttttagtagagatggggtttcaccac [A/G] ttggtcaggctggtttcaaactcct | Arg | 501 |
| rs10405951 | tggccTTAAATTTTATTTATATAttt [A/T] tttttgtagagacgaggtctcacta | Trp | 501 |
| rs12973059 | ggcgtgtgcctgtagtcccagctact [C/T] gggaggctgaggcagaagaatcgct | Tyr | 501 |
| rs60637881 | GTGGGTGGGGGTGCAGATGGTGCAGG [-/G] TTGGGTGGGGCCTCAAGGCCTTTGC | Asn | 501 |
| rs2241708 | GCCCCAGCAGATACTCCAGAGAGGGA [A/G] ACTGAGGCACAGGGGAGACGGCATG | Arg | 501 |
| rs2241709 | GAGGGAGACTGAGGCACAGGGGAGAC [A/G] GCATGCTGATGGAAGAGGACCGAAG | Arg | 501 |
| rs12980966 | tgaccaggctggtcttgaactcctga [C/T] ctaaggtgatctgcccgcctcggcc | Tyr | 501 |
| rs11880951 | GAAATAGTCAGGGAAAGGTTGAGAGG [C/G] TGCATATTGTAGACAGATTGGATTA | Ser | 501 |
| rs10418917 | acctggctaattttgtatttttagta [A/G] agatggggtttctccatgttggtca | Arg | 501 |
| rs12971746 | gctgggcgtaatggcgtgtgcctgta [A/G] tcccagctacttgggaggctgaggc | Arg | 501 |
| rs12980789 | actctgtcgcccaggctggagtacgg [G/T] ggcgcagtcttggctcattgcaact | Lys | 501 |
| rs11880539 | TCTTTAGGAAGTGCTCAGCTGCTCAG [A/C] AGCACACTCTGAGACCCAGCCCCAT | Met | 501 |
| rs7258973 | GACGCCATTCTCCTGCCTCAGCCTCC [C/T] GAGTAGCTGGGACTACAGGCGCCCG | Tyr | 501 |
| rs61285302 | CTGGGATTACAGGCATGCGCCACCAC [A/C] CCTGGCTAATTTTGTATTTTTAGTA | Met | 501 |
| rs57114476 | AGGGATTTTTTTTTTTTTTTTTTTTT [-/TT] GAGATGGAGTCTCACTGTCACCAGG | Asn | 501 |
| rs10417311 | GGGgctgggcgtggtggctcatacct [A/G] tatgagcactttgggaggaggattg | Arg | 501 |
| rs10415116 | CTGGTTTGAGGATTAGGTGGCAAACC [A/G] TGGTGGAGTGTACATGCCCTGCCCA | Arg | 501 |
| rs166925 | TATGTTTGTGAGCAGACAAATGCAGT [A/G] GGCATGTGGTTGGGAAATCCAGAGT | Arg | 501 |
| rs10422226 | CACCATCATTGTTACTTGTTTAGTGT [C/T] TGCCCTCCCTGCTAGGCAgcaagga | Tyr | 501 |
| rs59233264 | GACAGAGCAGCCCTCTGTCTCAAAAT [A/G] AGATAGCCACAAGTGGTTGGTGGCT | Arg | 501 |
| rs10411013 | gttggccaggctggtctcgaactcct [G/T] gcctcaactgatccacccacctcag | Lys | 501 |
| rs10554793 | ATGGTGCAGGGTTTTTGTTTTGTTTT [-/GTTT] TTTGTTTTTTCGAGGTGGAGTTTTG | Asn | 501 |
| rs58959515 | TTTGCTCTTGTTCCTGTTTTCAAGAG [C/G] AGGATGCCCGTGTTTTGTGTGTGTG | Ser | 501 |
| rs60285872 | TGCCCTAATCTTTTTTTTTTTTTTTT [-/TTTT] GACTTGCCCTAATCTTAGGGATATT | Asn | 501 |
| rs12327735 | ggtgatctgcctgcctcggactccca [A/G] agtgctgggattacaggcgtgagcc | Arg | 501 |
| rs11666243 | CTTACCTGTCAACTTGACACTTTTTT [G/T] TTTTTTTAGGCTAGTCAGGTGAAGC | Lys | 501 |
| rs12327737 | gctgggattacaggcgtgagccacca [C/T] gcccagccttcctggctaatttaaa | Tyr | 501 |
| rs10416743 | CTGGGCTTTCTCAGCCATTCCTCATC [C/T] GACCTGAGGAGGTGTGATGTCCTTG | Tyr | 501 |
| rs12979462 | tttttgaggtggagtctcactctgtc [G/T] cccaggctggagtacggtggcgcag | Lys | 501 |
| rs58436091 | TTTTGCAGAGAGCCACACAATGAGCT [A/G] AGAAATTAGAACCCAGGGCAGTTGA | Arg | 501 |
| rs59989753 | GTCTCCCAAAGTGCTGGGATTACAGG [C/T] GTGAGCCACCACGCCCAGCCTAATT | Tyr | 501 |
| rs10417997 | gaactcctgacctcaggtgagccaca [A/G] gtcttggcctcccaaagtgtgggga | Arg | 501 |
| rs10422783 | gctgggattacaggcataagccactg [C/T] gcctggctgcgcctggctaattttt | Tyr | 501 |
| rs11083619 | TGAACTCCAGAGCCAGGGAACTTAAC [A/C] GCCCATTCATGCATTCACTCAGGAA | Met | 501 |
| rs11083618 | ttgtatttttagtagagacagggttt [C/T] gccatgttggccaggctggtctcga | Tyr | 501 |
| rs8102338 | tgaactcctgggctcaagcgatcctc [C/T] ctccttggcctcccaaagtgctggt | Tyr | 574 |
| rs4803461 | cGGGCAGGTGATTTTTCTTGTCTTTC [A/G] CCTCTTTCCACTTCAGTCCCCCTGG | Arg | 588 |
| rs284647 | gagaaggaggctgcagtgagctgcga [C/T] agcaccactgcactctagcctgggc | Tyr | 654 |
| rs1967334 | actccagcctgggcaacagagcgaga [C/T] tccatctcaaaaaaaaaaaaggaga | Tyr | 770 |
| rs284657 | ctatctcttaaaaaaaaaaaaaaGCT [C/G] GTTTGAGGATTAGGTGGCAAACCGT | Ser | 821 |
| rs3816037 | TGGGGCTCTGGGCAGCCCTGGCATAC [A/G] GATGGACATGAGATCACACAGGGCC | Arg | 1217 |
results for the gene search with BCKDHA
| mRNA pos | aa position | function | mutation | aa change |
|---|---|---|---|---|
| 54 | 5 | synonymous | C/T | - |
| 72 | 12 | synonymous | C/A | - |
| 125 | 29 | missense | G/A | Gly/Glu |
| 153 | 83 | synonymous | C/G, C/T | - |
| 155 | 39 | missense | C/A | Pro/His |
| 156 | 39 | synonymous | C/A | - |
| 238 | 82 | missense | A/C | Met/Leu |
| 330 | 97 | synonymous | G/C | - |
| 491 | 151 | missense | C/T | Thr/Met |
| 547 | 170 | missense | C/T | Pro/Ser |
| 678 | 213 | synonymous | C/T | - |
| 687 | 216 | synonymous | G/T | - |
| 769 | 244 | missense | G/A | Gly/Arg |
| 879 | 280 | synonymous | C/T | - |
| 1011 | 324 | synonymous | C/T | - |
| 1012 | 325 | frame shift | C/ | - |
| 1014 | 325 | synonymous | C/T | - |
| 1120 | 361 | missense | A/G | Ile/Val |
| 1260 | 407 | synonymous | A/G | - |
| 1299 | 420 | synonymous | C/T | - |
Point mutations can have an influence on the amino acids or not depending on kind of point mutation. There are two different types: synonymous and non-synonymous mutations.
If a point mutation is synonymous it means that the change occurs only in the nucleotide sequence but not in the amino acid sequence. This is possible because of the fact that amino acids are encoded by three nucleotides (codons) and some of the amino acids are encoded by more than one possible arrangement of nucleotides. So it can happen that when there is a mutation in the nucleotide sequence there is also a change in the codon but both codons encode the same amino acid.
The other possibility is that a mutation is non-synonymous which means that the mutation has an influence on the amino acid sequence and the amino acid changes. This change can have more or less severe because amino acids have several properties. When an amino acid is replaced by an amino acid which has the same properties the change is not so grave as the change to an amino acid with completely different properties.
