Glucocerebrosidase mapping snps
Contents
General
HGMD
The HGMD is the Human Gene Mutation Database, which contains germline mutations that are linked to human diseases. There are several types of mutations:
- missense/nonsense: codon codes for a different amino acid/premature stop codon
- splicing: a mutation that causes splicing
- regulatory: mutation affecting the regulation of gene expression
- small/gross deletions: mutation that deletes residues
- small/gross insertions: mutation that inserts residues
- small indels: insertion or deletion (maybe not recognizable)
- duplications: duplicated sequence pieces
- complex rearrangements: part of the sequence is placed somewhere else
- repeat variations: repeated varied parts of the sequence are placed somewhere else
dbSNP
The dbSNP is the Single Nucleotide Polymorphism Database by the NCBI together with the National Human Genome Research Institute (NHGRI), which was built up 1998. <ref>http://en.wikipedia.org/wiki/DbSNP</ref> It contains several types of mutations for 55 organisms including human:
- SNPs (single nucleotide polymorphisms)
- MNPs (multinucleotide polymorphisms)
- small deletions
- small insertions
- small indels
- short tandem repeats (STRs)
HGMD: Mutations for GBA
Overview
To get the different mutation types for the GBA gene, which is the interesting gene in Gaucher Disease, we searched at HMGD for GBA. As a result we got a list with the different types of mutations found for GBA:
mutation type | number of mutations |
---|---|
missense/nonsense | 236 |
splicing | 13 |
regulatory | 0 |
small deletions | 23 |
small insertions | 13 |
small indels | 2 |
gross deletions | 3 |
sross insertions/duplications | 0 |
complex rearrangements | 13 |
repeat variations | 0 |
public total (HGMD Professional 2011.1 total) | 303 (353) |
The for our case interesting mutations are the missense/nonsense mutations, because they cause a change in the amino acid sequence. Such single point mutations seems to be responsible for Gaucher Disease, so we focus on them.
Missense/nonsense mutations given for GBA
There are given 236 missense/nonsense mutations for GBA:
Codon change | Amino acid change | Codon number |
---|---|---|
AAG-AGG | Lys-Arg | -27 |
TGGg-TGA | Trp-Term | -4 |
cGGC-AGC | Gly-Ser | 10 |
AGC-ATC | Ser-Ile | 12 |
gGTG-ATG | Val-Met | 15 |
gGTG-CTG | Val-Leu | 15 |
TGT-TCT | Cys-Ser | 16 |
tGAC-AAC | Asp-Asn | 24 |
tGGT-AGT | Gly-Ser | 35 |
cTTC-GTC | Phe-Val | 37 |
tGAG-AAG | Glu-Lys | 41 |
AGT-AAT | Ser-Asn | 42 |
ACA-ATA | Thr-Ile | 43 |
GGG-GAG | Gly-Glu | 46 |
gCGA-TGA | Arg-Term | 47 |
aCGG-TGG | Arg-Trp | 48 |
CGG-CAG | Arg-Gln | 48 |
CTA-CCA | Leu-Pro | 66 |
aCAG-TAG | Gln-Term | 73 |
gAAG-TAG | Lys-Term | 74 |
GTG-GCG | Val-Ala | 78 |
AAGg-AAC | Lys-Asn | 79 |
ATG-ACG | Met-Thr | 85 |
tGCT-ACT | Ala-Thr | 90 |
CTT-CGT | Leu-Arg | 105 |
TCG-TTG | Ser-Leu | 107 |
cTTC-GTC | Phe-Val | 109 |
tGAA-AAA | Glu-Lys | 111 |
GGA-GAA | Gly-Glu | 113 |
tAAC-GAC | Asn-Asp | 117 |
ATC-ACC | Ile-Thr | 119 |
ATC-AGC | Ile-Ser | 119 |
cCGG-TGG | Arg-Trp | 120 |
CGG-CAG | Arg-Gln | 120 |
GTA-GCA | Val-Ala | 121 |
aCCC-TCC | Pro-Ser | 122 |
CCC-CTC | Pro-Leu | 122 |
ATG-ACG | Met-Thr | 123 |
cATG-GTG | Met-Val | 123 |
GAC-GTC | Asp-Val | 127 |
cCGC-TGC | Arg-Cys | 131 |
CGC-CTC | Arg-Leu | 131 |
ACC-ATC | Thr-Ile | 134 |
cACC-CCC | Thr-Pro | 134 |
TATg-TAG | Tyr-Term | 135 |
GCA-GAA | Ala-Glu | 136 |
tGAT-CAT | Asp-His | 140 |
GAA-GCA | Glu-Ala | 152 |
AAGa-AAT | Lys-Asn | 157 |
cAAG-CAG | Lys-Gln | 157 |
aCCC-ACC | Pro-Thr | 159 |
CCC-CTC | Pro-Leu | 159 |
ATT-AAT | Ile-Asn | 161 |
ATT-AGT | Ile-Ser | 161 |
CAC-CCC | His-Pro | 162 |
cCGA-TGA | Arg-Term | 163 |
cCAG-TAG | Gln-Term | 169 |
CGT-CCT | Arg-Pro | 170 |
gCGT-TGT | Arg-Cys | 170 |
TCA-TGA | Ser-Term | 173 |
aCTC-TTC | Leu-Phe | 174 |
CTC-CCC | Leu-Pro | 174 |
GCC-GAC | Ala-Asp | 176 |
cCCC-TCC | Pro-Ser | 178 |
TGG-TAG | Trp-Term | 179 |
gACA-CCA | Thr-Pro | 180 |
aCCC-ACC | Pro-Thr | 182 |
CCC-CTC | Pro-Leu | 182 |
tTGG-CGG | Trp-Arg | 184 |
gCTC-TTC | Leu-Phe | 185 |
AAT-AGT | Asn-Ser | 188 |
AATg-AAG | Asn-Lys | 188 |
GGA-GTA | Gly-Val | 189 |
aGCG-ACG | Ala-Thr | 190 |
GCG-GAG | Ala-Glu | 190 |
GTG-GAG | Val-Glu | 191 |
GTG-GGG | Val-Gly | 191 |
GGG-GAG | Gly-Glu | 195 |
gGGG-TGG | Gly-Trp | 195 |
gTCA-CCA | Ser-Pro | 196 |
aCTC-TTC | Leu-Phe | 197 |
CTC-CCC | Leu-Pro | 197 |
AAG-ACG | Lys-Thr | 198 |
cAAG-GAG | Lys-Glu | 198 |
cGGA-AGA | Gly-Arg | 202 |
GGA-GAA | Gly-Glu | 202 |
TAC-TGC | Tyr-Cys | 205 |
cTGG-CGG | Trp-Arg | 209 |
GCC-GTC | Ala-Val | 210 |
aTAC-CAC | Tyr-His | 212 |
cTTT-ATT | Phe-Ile | 213 |
TTT-TGT | Phe-Cys | 213 |
gTTC-GTC | Phe-Val | 216 |
TTC-TAC | Phe-Tyr | 216 |
TAT-TGT | Tyr-Cys | 220 |
ACA-AGA | Thr-Arg | 231 |
GAAa-GAC | Glu-Asp | 233 |
tGAA-TAA | Glu-Term | 233 |
tTCT-CCT | Ser-Pro | 237 |
GGG-GTG | Gly-Val | 239 |
GGA-GTA | Gly-Val | 243 |
aTAC-CAC | Tyr-His | 244 |
CCC-CAC | Pro-His | 245 |
TTCa-TTA | Phe-Leu | 251 |
CATc-CAG | His-Gln | 255 |
CGA-CAA | Arg-Gln | 257 |
gCGA-TGA | Arg-Term | 257 |
TTCa-TTA | Phe-Leu | 259 |
ATT-ACT | Ile-Thr | 260 |
GGT-GAT | Gly-Asp | 265 |
CCT-CGT | Pro-Arg | 266 |
CCT-CTT | Pro-Leu | 266 |
tCCT-GCT | Pro-Ala | 266 |
AGT-AAT | Ser-Asn | 271 |
CTC-CCC | Leu-Pro | 279 |
aCGC-TGC | Arg-Cys | 285 |
CGC-CAC | Arg-His | 285 |
CCC-CTC | Pro-Leu | 289 |
aCTG-TTG | Leu-Leu | 296 |
AAA-ATA | Lys-Ile | 303 |
TAT-TGT | Tyr-Cys | 304 |
TATg-TAG | Tyr-Term | 304 |
tGTT-CTT | Val-Leu | 305 |
GCT-GTT | Ala-Val | 309 |
CAT-CGT | His-Arg | 311 |
TGGt-TGT | Trp-Cys | 312 |
tTGG-CGG | Trp-Arg | 312 |
gTAC-CAC | Tyr-His | 313 |
gGAC-CAC | Asp-His | 315 |
GCT-GAT | Ala-Asp | 318 |
tCCA-GCA | Pro-Ala | 319 |
ACC-ATC | Thr-Ile | 323 |
CTA-CAA | Leu-Gln | 324 |
CTA-CCA | Leu-Pro | 324 |
aGGG-AGG | Gly-Arg | 325 |
aGGG-TGG | Gly-Trp | 325 |
gGAG-AAG | Glu-Lys | 326 |
cCGC-TGC | Arg-Cys | 329 |
TTC-TCC | Phe-Ser | 331 |
CTC-CCC | Leu-Pro | 336 |
gGCC-ACC | Ala-Thr | 341 |
cTGT-CGT | Cys-Arg | 342 |
cTGT-GGT | Cys-Gly | 342 |
TGT-TAT | Cys-Tyr | 342 |
cTGG-GGG | Trp-Gly | 348 |
gGAG-AAG | Glu-Lys | 349 |
gCAG-TAG | Gln-Term | 350 |
tGTG-CTG | Val-Leu | 352 |
gCGG-GGG | Arg-Gly | 353 |
gCGG-TGG | Arg-Trp | 353 |
GGC-GAC | Gly-Asp | 355 |
TCC-TTC | Ser-Phe | 356 |
TGG-TAG | Trp-Term | 357 |
CGA-CAA | Arg-Gln | 359 |
tCGA-TGA | Arg-Term | 359 |
ATGc-ATA | Met-Ile | 361 |
TAC-TGC | Tyr-Cys | 363 |
AGC-AAC | Ser-Asn | 364 |
AGC-ACC | Ser-Thr | 364 |
cAGC-CGC | Ser-Arg | 364 |
AGC-AAC | Ser-Asn | 366 |
AGC-ACC | Ser-Thr | 366 |
cAGC-GGC | Ser-Gly | 366 |
ACG-ATG | Thr-Met | 369 |
AAC-AGC | Asn-Ser | 370 |
AACc-AAA | Asn-Lys | 370 |
cCTC-GTC | Leu-Val | 371 |
tGTG-TTG | Val-Leu | 375 |
cGGC-AGC | Gly-Ser | 377 |
cTGG-GGG | Trp-Gly | 378 |
TGG-TAG | Trp-Term | 378 |
cGAC-AAC | Asp-Asn | 380 |
cGAC-CAC | Asp-His | 380 |
GAC-GCC | Asp-Ala | 380 |
TGG-TAG | Trp-Term | 381 |
AACc-AAA | Asn-Lys | 382 |
CTT-CGT | Leu-Arg | 383 |
CTG-CCG | Leu-Pro | 385 |
CCC-CTC | Pro-Leu | 387 |
cGAA-TAA | Glu-Term | 388 |
GGA-GAA | Gly-Glu | 389 |
aGGA-AGA | Gly-Arg | 390 |
CCC-CTC | Pro-Leu | 391 |
AAT-ATT | Asn-Ile | 392 |
TGG-TTG | Trp-Leu | 393 |
tTGG-AGG | Trp-Arg | 393 |
gGTG-TTG | Val-Leu | 394 |
CGT-CCT | Arg-Pro | 395 |
gCGT-TGT | Arg-Cys | 395 |
AAC-ACC | Asn-Thr | 396 |
TTT-TCT | Phe-Ser | 397 |
tGTC-ATC | Val-Ile | 398 |
tGTC-CTC | Val-Leu | 398 |
tGTC-TTC | Val-Phe | 398 |
cGAC-AAC | Asp-Asn | 399 |
cGAC-TAC | Asp-Tyr | 399 |
CCC-CTC | Pro-Leu | 401 |
ATC-ACC | Ile-Thr | 402 |
cATC-TTC | Ile-Phe | 402 |
GAC-GGC | Asp-Gly | 409 |
GAC-GTC | Asp-Val | 409 |
gGAC-CAC | Asp-His | 409 |
gTTT-ATT | Phe-Ile | 411 |
tTAC-CAC | Tyr-His | 412 |
cAAA-CAA | Lys-Gln | 413 |
aCAG-TAG | Gln-Term | 414 |
CAG-CGG | Gln-Arg | 414 |
CCC-CGC | Pro-Arg | 415 |
cATG-GTG | Met-Val | 416 |
gTTC-GTC | Phe-Val | 417 |
TAC-TGC | Tyr-Cys | 418 |
GGC-GAC | Gly-Asp | 421 |
cAAG-GAG | Lys-Glu | 425 |
AGAg-AGT | Arg-Ser | 433 |
gAGA-GGA | Arg-Gly | 433 |
CTG-CCG | Leu-Pro | 444 |
CTG-CGG | Leu-Arg | 444 |
cGCA-CCA | Ala-Pro | 446 |
CAT-CGT | His-Arg | 451 |
tGCT-CCT | Ala-Pro | 456 |
cGTG-ATG | Val-Met | 460 |
CTA-CCA | Leu-Pro | 461 |
AAC-AGC | Asn-Ser | 462 |
AACc-AAG | Asn-Lys | 462 |
cCGC-TGC | Arg-Cys | 463 |
CGC-CAC | Arg-His | 463 |
CGC-CCC | Arg-Pro | 463 |
gGAT-TAT | Asp-Tyr | 474 |
gGGC-AGC | Gly-Ser | 478 |
CTG-CCG | Leu-Pro | 480 |
cTCC-CCC | Ser-Pro | 488 |
ATT-ACT | Ile-Thr | 489 |
ACC-ATC | Thr-Ile | 491 |
CGC-CAC | Arg-His | 496 |
tCGC-TGC | Arg-Cys | 496 |
CAG-CGG | Gln-Arg | 497 |
Sequence
>sp|P04062|GLCM_HUMAN Glucosylceramidase OS=Homo sapiens GN=GBA PE=1 SV=3
MEFSSPSREECPKPLSRVSIMAGSLTGLLLLQAVSWASGARPCIPKSFGYSSVVCVCNATYCDSFDPPTFPALGTFSRYES
TRSGRRMELSMGPIQANHTGTGLLLTLQPEQKFQKVKGFGGAMTDAAALNILALSPPAQNLLLKSYFSEEGIGYNIIRVPM
ASCDFSIRTYTYADTPDDFQLHNFSLPEEDTKLKIPLIHRALQLAQRPVSLLASPWTSPTWLKTNGAVNGKGSLKGQPGDI
YHQTWARYFVKFLDAYAEHKLQFWAVTAENEPSAGLLSGYPFQCLGFTPEHQRDFIARDLGPTLANSTHHNVRLLMLDDQR
LLLPHWAKVVLTDPEAAKYVHGIAVHWYLDFLAPAKATLGETHRLFPNTMLFASEACVGSKFWEQSVRLGSWDRGMQYSHS
IITNLLYHVVGWTDWNLALNPEGGPNWVRNFVDSPIIVDITKDTFYKQPMFYHLGHFSKFIPEGSQRVGLVASQKNDLDAV
ALMHPDGSAVVVVLNRSSKDVPLTIKDPAVGFLETISPGYSIHTYLWRRQ
Possible missense/nonsense mutations are marked with red.
dbSNP
Search dbSNP for GBA
All: 296
Human: 130
ID | mutation in sequence | amino acid | position |
---|---|---|---|
rs121909119 | R | 251 | |
rs121908314 | S | 251 | |
rs121908313 | M | 251 | |
rs121908312 | S | 251 | |
rs121908311 | R | 251 | |
rs121908310 | K | 251 | |
rs121908309 | Y | 251 | |
rs121908308 | S | 251 | |
rs121908307 | S | 251 | |
rs121908306 | K | 251 | |
rs121908305 | R | 251 | |
rs121908304 | K | 251 | |
rs121908303 | K | 251 | |
rs121908302 | K | 251 | |
rs121908301 | R | 251 | |
rs121908300 | Y | 251 | |
rs121908299 | Y | 251 | |
rs121908298 | Y | 251 | |
rs121908297 | M | 251 | |
rs121908295 | S | 251 | |
rs104886460 | K | 251 | |
rs80356773 | R | 251 | |
rs80356772 | R | 251 | |
rs80356771 | Y | 251 | |
rs80356769 | K | 251 | |
rs80356768 | N | 251 | |
rs80356765 | R | 251 | |
rs80356763 | K | 251 | |
rs80356760 | N | 251 | |
rs80356759 | R | 251 | |
rs79653797 | R | 251 | |
rs78973108 | Y | 251 | |
rs78396650 | Y | 251 | |
rs78198234 | R | 251 | |
rs77829017 | R | 251 | |
rs77369218 | W | 251 | |
rs76763715 | B | 251 | |
rs76539814 | N | 251 | |
rs74598136 | W | 251 | |
rs74500255 | Y | 251 | |
rs72704130 | R | 201 | |
rs71804950 | N | 401 | |
rs71702887 | N | 401 | |
rs67048649 | N | 401 | |
rs66677213 | N | 401 | |
rs66539432 | N | 401 | |
rs66487775 | N | 401 | |
rs61748906 | R | 51 | |
rs60482782 | N | 501 | |
rs56124445 | M | 501 | |
rs41264927 | TGAAAACTCCATCCCCTCAGGGTCAT [C/T] AGATGAAGAGAAGACCACAGGGGTT | Y | 401 |
rs41264925 | TGTAGGTAAGGGTCACATGTGGGAGA [C/G] GCAGCTGTGGGTAGGTCAGCCCTGT | S | 401 |
rs36024691 | CCAAGAAGGCGCCATTACACTCCAGC [-/C] TGGGCGACAGGGCGAGACTCCCTCA | N | 301 |
rs36024092 | TGCCACACCCAGCTAATTTGTGTGTG [-/G] TATGTGTGTGTATGTATGTGTGTGT | N | 301 |
rs35766614 | GACGGGCGCCTGTAATCCCAGCTACT [C/T] GGGAGGCTGAGGCAGGAGAATTGCT | Y | 301 |
rs35682967 | GTTCCTCCAGTAATTTTTTTTTTTTT [-/T] GGTTTTGAGACAGAGTCTTGCCCTG | N | 501 |
rs35033592 | ATCATGCCCAGATAATTTTTTTTTTT [-/T] GTATTTTAGTAGACACAGGGTTTCA | N | 301 |
rs34732744 | CGAGCGAGAGAGAGAGAGAGAGAGAG [-/AG] GAGCCGGCGCGAGAACTACGCATGC | N | 401 |
rs34620635 | CCTGTGAGGGGCACATTCCTTAGTAG [-/C] TAAGGAGTTGGGGGTGTGAAGATCC | N | 301 |
rs33949225 | GCGAGAGAGAGAGAGAGAGAGAGAGG [-/AG] AGCCGGCGCGAGAACTACGCATGCG | N | 401 |
rs28678003 | AAGAAGAAAAATAAAAAGAAAGTGGG [C/T] CAGACCGAGAGAACAGGAAGCCTGA | Y | 501 |
rs28559737 | AAGGACAAAGGCAAAGAGACAAAGGC [G/T] CAACACTGGGGGTCCCCAGAGAGTG | K | 251 |
rs28373017 | TACCTAGTCACTTCCTGCCTCCATGG [C/T] GCAAAAGGGGATGGGTGTGCCTCTT | Y | 301 |
rs12752133 | CTCTTCCGAGGTTCCACCCTGAACAC [C/T] TTCCTGCTCCCTCGTGGTGTAGAGT | Y | 301 |
rs12747811 | TTCTGACTGGCAACCAGCCCCACTCT [C/T] TGGGAGCCCTCAGGAATGAACTTGC | Y | 201 |
rs12743554 | gctcagcctcccaggctggagtgcag [A/T] ggcgcgatctcggctcaccgcaacc | W | 501 |
rs12406363 | TGAGTCACACCTGTAATCCCAGCACT [C/T] TGGGAGACCGAGGCAGGCGGATTAC | Y | 393 |
rs12041778 | CATGAACCACATCAAATGAGATTTAG [C/T] GGGAGTGGCACACACAGTCATGACC | Y | 201 |
rs12034326 | AAGCAGCCCTGGGGAGTCGGGGCGGG [A/G] CCTGGATTGGAAAAGAGACGGTCAC | R | 301 |
rs11558184 | CTCCAAGTTCTGGGAGCAGAGTGTGC [A/G] GCTAGGCTCCTGGGATCGAGGGATG | R | 51 |
rs11430678 | GTTCCTCCAGTAAttttttttttttt [-/GT] gttttgagacagagtcttgccctgt | N | 501 |
rs11264345 | CTAGTACCTTACTTCCCTCAAGTTCA [A/T] TCATCTCACAGATATTTCCTGAGCA | W | 201 |
rs10908459 | aattagccgtgcgtggtggcgggtgc [C/T] tgtaatcccacgtacttgggaggct | Y | 501 |
rs10668496 | agcgagagagagagagagagagagag [-/AG] gagCCGGCGCGAGAACTACGCATGC | N | 401 |
rs9628662 | TAGTTCCTGTTGTAGGAATCCTGGAG [G/T] TGGGTGACGGGAAGAATGCAACTAG | K | 201 |
rs7416991 | CGTAGCAGTTAGCAGATGATAGGCGG [C/G/T] GAAATCTTATTTCACAGGGCATTAA | B | 201 |
rs3841430 | GGCTCCTCTCTCTCTCTCTCTCTCTC [-/TC] GCTCGCTCTCTCGCTCTCTCGCTCT | N | 400 |
rs3754485 | GTTTCAGACCAGCCTGGCCAACATAG [C/T] GAAACCCCATCTCTACTAAAAATAA | Y | 501 |
rs2990228 | CAAGTTTCTGATCTTGGGACCTTAAC [A/C] TTCTATGGGACGACACAGATATATA | M | 201 |
rs2990227 | CCGGGCTCCGTGAATGTTTGTCACAT [C/G] TCTGAAGAACGTATGAATTACATAA | S | 201 |
rs2990226 | GAATCCCAACCCCGACGCTCGTCGCC [C/G] GGCTCCGTGAATGTTTGTCACATGT | S | 201 |
rs2990225 | GCGAATCCCAACCCCGACGCTCGTCG [C/T] CGGGCTCCGTGAATGTTTGTCACAT | Y | 201 |
rs2990224 | TGGGCAGAAGTCAGGGTCCAAAGAAA [G/T] GGCAAAGAAAAGTGTcagtggctca | K | 201 |
rs2974922 | GCCCATCCCTGACATTTGGTTCCTGT [C/T] TTAATGCCCTGTGAAATAAGATTTC | Y | 201 |
rs2974921 | tgagccactgACACTTTTCTTTGCCC [A/T] TTCTTTGGACCCTGACTTCTGCCCA | 201 | |
rs2885305 | AGAATGAGGAATGACTGAAAAGCAAG [C/T] CCCTCTCCACCCCTCAACTACTCTC | Y | 89 |
rs2361535 | TTAGCTGCCTTTGGGTGCCCATGGCC [C/T] GGTCTCCCACATTCATTAGGACAAG | Y | 152 |
rs2361534 | CCCTCTCCACCCCTCAACTACTCTCC [C/T] GGGCAGGGCTTAGCTGCCTTTGGGT | Y | 116 |
rs2230289 | GATGCAGTACAGCCACAGCATCATCA [C/T] GAACCTCCTGTACCATGTGGTCGGC | Y | 151 |
rs2230288 | TGGCTCCAGCCAAAGCCACCCTAGGG [A/G] AGACACACCGCCTGTTCCCCAACAC | R | 251 |
rs2075569 | ATGACATAGAGCCATTGAAACTtttc [A/G] tttttcttttctttttttaaaattt | R | 205 |
rs2070679 | GGTTGCAGGGAGAGCTGCACCCAGGT [G/T] TCTGTGGGCCTTGTCCTAATGAATG | K | 441 |
rs2009578 | ggcgccatcttcactcactgtaacct [C/T] tgcctcctgagttcaagcaattctc | Y | 302 |
rs1800442 | CAGGAGAATCACTCGAACCCAGGAGG [C/T] GGAGGTTGCAGTGAGCCAAGATCAC | Y | 501 |
rs1800438 | GGggtccagcgcagtggctcatgcct [A/G] taatcccagcactttcggataccaa | R | 678 |
rs1158151 | taccatctttctatgtgttaatccat [A/G] actccagccttgacctcccatgagc | R | 262 |
rs1141826 | ATGCAGTACAGCCACAGCATCATCAC [A/G] AACCTCCTGTACCATGTGGTCGGCT | R | 51 |
rs1141821 | ATGGGGCCCATCCAGGCTAATCACAC [C/G] GGCACAGGCCTGCTACTGACCCTGC | S | 101 |
rs1141820 | GAGTATGGGGCCCATCCAGGCTAATC [A/G] CACCGGCACAGGCCTGCTACTGACC | R | 51 |
rs1141818 | TGAGTATGGGGCCCATCCAGGCTAAT [C/T] ACACCGGCACAGGCCTGCTACTGAC | Y | 51 |
rs1141816 | GGCGATTGGATGGAGCTGAGTATGGG [A/G] CCCATCCAGGCTAATCACACCGGCA | R | 51 |
rs1141815 | AGTGGGCGATTGGATGGAGCTGAGTA [C/T] GGGGCCCATCCAGGCTAATCACACC | Y | 51 |
rs1141814 | GCTACAAGAGCACACGCAGTGGGCGA [C/T] TGGATGGAGCTGAGTATGGGGCCCA | Y | 101 |
rs1141812 | GTACCTTCAGCCGCTACAAGAGCAGA [A/C] GCAGTGGGCGATTGGATGGAGCTGA | M | 51 |
rs1141811 | TGGTACCTTCAGCCGCTATGAGAGTA [C/G/T] ACGCAGTGGGCGACGGATGGAGCTG | B | 61 |
rs1141810 | CTTGGTACCTTCAGCCGCTACAAGAG [C/T] AGAAGCAGTGGGCGATTGGATGGAG | Y | 51 |
rs1141808 | CTGCCCTTGGTACCTTCAGCCGCTAC [A/G] AGAGCACACGCAGTGGGCGATTGGA | R | 101 |
rs1141807 | CCTGCCCTTGGTACCTTCAGCCGCTA [C/T] AAGAGCACACGCAGTGGGCGATTGG | Y | 101 |
rs1141804 | CCAGAGAGGAATGTCCCAAGCCTTTG [A/G] GTAGGGTAAGCATCATGGCTGGCAG | R | 101 |
rs1141802 | TTCCAGAGAGGAATGTCCCAAGCCTT [C/T] GAGTAGGGTAAGCATCATGGCTGGC | Y | 101 |
rs1141801 | CTTCTCTTCATCTAATGACCCTGAGG [G/T] GATGGAGTTTTCAAGTCCTTCCAGA | K | 177 |
rs1135675 | CCCGATGGCTCTGCTGTTGTGGTCGT [C/G] CTAAACCGCTCCTCTAAGGATGTGC | S | 51 |
rs1064651 | GTCCCATCATTGTAGACATCACCAAG [C/G] ACACGTTTTACAAACAGCCCATGTT | S | 251 |
rs1064648 | CAAAGCCACCCTAGGGGAGACACACC [A/G] CCTGTTCCCCAACACCATGCTCTTT | R | 101 |
rs1064647 | CCAGAAGCAGCTAAATATGTTCATGG [C/T] ATTGCTGTACATTGGTACCTGGACT | Y | 101 |
rs1064646 | GTACTGACAGACCCAGAAGCAGCTAA [A/G] TATGTTCATGGCATTGCTGTACATT | R | 101 |
rs1064644 | CCAATGGAGCGGTGAATGGGAAGGGG [C/T] CACTCAAGGGACAGCCCGGAGACAT | Y | 251 |
rs1064640 | AACCCCTGTGGTCTTCTCTTCATCTA [A/G] TGACCCTGAGGGGATGGAGTTTTCA | R | 165 |
rs1064638 | CCTTCAGAGACTCTGGAACCCCTGTG [C/G] TCTTCTCTTCATCTAATGACCCTGA | S | 51 |
rs1064637 | CAGGGCTAACCTAGTGCCTATAGCTA [A/T] GGCAGGTACCTGCATCCTTGTTTTT | W | 51 |
rs1059731 | AGCATCATGGCTGGCAGCCTCACAGG [A/T] TTGCTTCTACTTCAGGCAGTGTCGT | W | 51 |
rs1057927 | GAATTACTTGCAGGGCTAACCTAGTG [A/C] CTATAGCTAAGGCAGGTACCTGCAT | M | 51 |
rs762488 | gattataggcgcctgccaccaggccc [A/G] gctgatttttctatttttagtagag | R | 379 |
rs426516 | AGGCCTAGAGAGCCAGTGCAGAGCCT [C/T] TGCAGGAGTTATGGGGTGGGTCCGT | Y | 201 |
rs421016 | CGGGATGCATCAGTGCCACTGCGTCC [A/C/G/T] GGTCGTTCTTCTGACTGGCAACCAG | N | 301 |
rs381737 | TCTACCACCAGACCTGGGCCAGATAC [A/T] TTGTGAAGTAAGGGATCAGCAAGGA | W | 251 |
rs381427 | CACTTGGCTCAAGACCAATGGAGCGG [A/G/T] GAATGGGAAGGGGTCACTCAAGGGA | D | 201 |
rs381418 | ACATCACCCACTTGGCTCAAGACCAA [G/T] GGAGCGGTGAATGGGAAGGGGTCAC | K | 201 |
rs368060 | TCACCGGTTTAGGACGACCACAACAG [C/G] AGAGCCATCGGGATGCATCAGTGCC | S | 301 |
rs364897 | GACATCACCCACTTGGCTCAAGACCA [A/C/G/T] TGGAGCGGTGAATGGGAAGGGGTCA | N | 251 |
Search dbSNP for silent mutations for GBA
All: 24
Human: 10
ID | mutation in sequence | amino acid | position |
---|---|---|---|
rs12747811 | TTCTGACTGGCAACCAGCCCCACTCT [C/T] TGGGAGCCCTCAGGAATGAACTTGC | Y | 201 |
rs17405304 | ATGCAGTACAGCCACAGCATCATCAC [A/G] AACCTCCTGTACCATGTGGTCGGCT | R | 51 |
rs3205635 | ATGCAGTACAGCCACAGCATCATCAC [A/G] AACCTCCTGTACCATGTGGTCGGCT | R | 51 |
rs1141826 | ATGCAGTACAGCCACAGCATCATCAC [A/G] AACCTCCTGTACCATGTGGTCGGCT | R | 51 |
rs17405290 | ATGGGGCCCATCCAGGCTAATCACAC [C/G] GGCACAGGCCTGCTACTGACCCTGC | S | 101 |
rs3205624 | ATGGGGCCCATCCAGGCTAATCACAC [C/G] GGCACAGGCCTGCTACTGACCCTGC | S | 101 |
rs1141821 | ATGGGGCCCATCCAGGCTAATCACAC [C/G] GGCACAGGCCTGCTACTGACCCTGC | S | 101 |
rs3205620 | GGCGATTGGATGGAGCTGAGTATGGG [A/G] CCCATCCAGGCTAATCACACCGGCA | R | 51 |
rs1141816 | GGCGATTGGATGGAGCTGAGTATGGG [A/G] CCCATCCAGGCTAATCACACCGGCA | R | 51 |
rs1141810 | CTTGGTACCTTCAGCCGCTACAAGAG [C/T] AGAAGCAGTGGGCGATTGGATGGAG | Y | 101 |
rs16836764 | CCTGCCCTTGGTACCTTCAGCCGCTA [C/T] AAGAGCACACGCAGTGGGCGATTGG | Y | 101 |
rs3205615 | CCTGCCCTTGGTACCTTCAGCCGCTA [C/T] AAGAGCACACGCAGTGGGCGATTGG | Y | 101 |
rs1141807 | CCTGCCCTTGGTACCTTCAGCCGCTA [C/T] AAGAGCACACGCAGTGGGCGATTGG | Y | 101 |
rs1801473 | CCCGATGGCTCTGCTGTTGTGGTCGT [C/G] CTAAACCGCTCCTCTAAGGATGTGC | S | 51 |
rs3198511 | CCCGATGGCTCTGCTGTTGTGGTCGT [C/G] CTAAACCGCTCCTCTAAGGATGTGC | S | 51 |
rs1135675 | CCCGATGGCTCTGCTGTTGTGGTCGT [C/G] CTAAACCGCTCCTCTAAGGATGTGC | S | 51 |
rs17401379 | CCAGAAGCAGCTAAATATGTTCATGG [C/T] ATTGCTGTACATTGGTACCTGGACT | Y | 101 |
rs3205632 | CCAGAAGCAGCTAAATATGTTCATGG [C/T] ATTGCTGTACATTGGTACCTGGACT | Y | 101 |
rs1064647 | CCAGAAGCAGCTAAATATGTTCATGG [C/T] ATTGCTGTACATTGGTACCTGGACT | Y | 101 |
rs17401372 | GTACTGACAGACCCAGAAGCAGCTAA [A/G] TATGTTCATGGCATTGCTGTACATT | R | 101 |
rs3205631 | GTACTGACAGACCCAGAAGCAGCTAA [A/G] TATGTTCATGGCATTGCTGTACATT | R | 101 |
rs1064646 | GTACTGACAGACCCAGAAGCAGCTAA [A/G] TATGTTCATGGCATTGCTGTACATT | R | 101 |
rs3200534 | AGCATCATGGCTGGCAGCCTCACAGG [A/T] TTGCTTCTACTTCAGGCAGTGTCGT | W | 51 |
rs1059731 | AGCATCATGGCTGGCAGCCTCACAGG [A/T] TTGCTTCTACTTCAGGCAGTGTCGT | W | 51 |