Difference between revisions of "Mapping SNPs HEXA"

From Bioinformatikpedia
(→‎Comparison of mutations in HGMD and SNP-DB)
(→‎Comparison of mutations in HGMD and SNP-DB)
Line 268: Line 268:
 
|Amino Acids
  
|Amino Acids
 
|Codons
  
|Codons
−
|-
  
−
|rowspan="3" | 248
 
−
|1
  
−
|Asp -> Lys
  
−
|GAA -> AAA
  
−
|-
  
−
|2
  
−
|Arg -> Glu
  
−
|CGA -> CAA
  
−
|-
  
−
|3
  
−
|Pro -> Pro
  
−
|CCG -> CCA
  
−
|-
  
−
|rowspan="3" | 203
 
−
|1
  
−
|TER -> Arg
  
−
|TGA -> CGA
  
−
|-
  
−
|2
  
−
|Leu -> Pro
  
−
|CTG -> CCG
  
−
|-
  
−
|3
  
−
|Thr -> Thr
  
−
|ACT -> ACC
  
−
|-
  
−
|rowspan="3" | 179
 
−
|1
  
−
|Val -> Leu
  
−
|GTA -> CTA
  
−
|-
  
−
|2
  
−
|Ser -> Thr
  
−
|AGT -> ACT
  
−
|-
  
−
|3
  
−
|Asp -> Asp
  
−
|GAG -> GAC
  
−
|-
  
−
|rowspan="3" | 191
 
−
|1
  
−
|Asp -> Asn
  
−
|GAC -> AAC
  
−
|-
  
−
|2
  
−
|Arg -> Lys
  
−
|AGA -> AAA
  
−
|-
  
−
|3
  
−
|Asp -> Asp
  
−
|GAG -> GAA
  
−
|-
  
−
|rowspan="3" | 116
 
−
|1
  
−
|Phe -> Leu
  
−
|TTC -> CTC
  
−
|-
  
−
|2
  
−
|Leu -> Pro
  
−
|CTT -> CCT
  
−
|-
  
−
|3
  
−
|Thr -> Thr
  
−
|ACT -> ACC
  
−
|-
  
−
|rowspan="3" | 116
 
−
|1
  
−
|Ser -> Pro
  
−
|TCC -> CCC
  
−
|-
  
−
|2
  
−
|Phe -> Ser
  
−
|TTC -> TCC
  
−
|-
  
−
|3
  
−
|Val -> Val
  
−
|GTT -> GTC
  
−
|-
  
−
|rowspan="3" | 446
 
−
|1
  
−
|Gly -> Arg
  
−
|GGG -> AGG
  
−
|-
  
−
|2
  
−
|Arg -> Glu
  
−
|CGG -> CAG
  
−
|-
  
−
|3
  
−
|Ser -> Ser
  
−
|TCG -> TCA
  
−
|-
  
−
|rowspan="6" | 324
 
−
|rowspan="2" | 1
  
−
|TER -> Arg
 
−
|TGA -> AGA
  
−
|-
  
−
|TER -> Arg
 
−
|TGA -> CGA
  
−
|-
  
−
|rowspan="2" | 2
  
−
|Leu -> TER
  
−
|TTG -> TAG
  
−
|-
  
−
|Leu -> Ser
  
−
|TTG -> TCG
  
 
|-
  
|-
 
|rowspan="2" | 3
  
|rowspan="2" | 3
Line 381: Line 275:
 
|Val -> Val
  
|Val -> Val
 
|GTT -> GTC
  
|GTT -> GTC
−
|-
  
−
|rowspan="3" | 85
 
−
|1
  
−
|Leu -> Leu
  
−
|TTG -> CTG
  
−
|-
  
−
|2
  
−
|Phe -> Ser
  
−
|TTT -> TCT
  
 
|-
  
|-
 
|3
  
|3
−
|Leu -> Leu
 +
|Val -> Val
−
|CTT -> CTC
 +
|GTC -> GTA
 
|-
  
|-
−
|rowspan="3" | 85
+
|rowspan="3" | 3
 
|1
  
|1
−
|Val -> Met
 +
|Phe -> Leu
−
|GTG -> ATG
 +
|TTC -> CTC
−
|-
  
−
|2
  
−
|Ser -> Asn
  
−
|AGT -> AAT
  
−
|-
  
−
|3
  
−
|Lys -> Lys
  
−
|AAG -> AAA
  
−
|-
  
−
|rowspan="3" | 85
 
−
|1
  
−
|Leu -> Leu
  
−
|TTA -> CTA
  
 
|-
  
|-
 
|2
  
|2
 
|Val -> Ala
  
|Val -> Ala
 
|GTT -> GCT
  
|GTT -> GCT
−
|-
  
−
|3
  
−
|Gly -> Gly
  
−
|GGT -> GGC
  
−
|-
  
−
|rowspan="3" | 85
 
−
|1
  
−
|Tyr -> His
  
−
|TAC -> CAC
  
−
|-
  
−
|2
  
−
|Iso -> Thr
  
−
|ATA -> ACA
  
−
|-
  
−
|3
  
−
|Tyr -> Tyr
  
−
|TAT -> TAC
  
−
|-
  
−
|rowspan="3" | 85
 
−
|1
  
−
|Cys -> Arg
  
−
|TGC -> CGC
  
−
|-
  
−
|2
  
−
|Leu -> Pro
  
−
|CTG -> CCG
  
 
|-
  
|-
 
|3
  
|3
 
|Ser -> Ser
  
|Ser -> Ser
−
|TCT -> TCC
 +
|AGT -> AGC
 
|-
  
|-
−
|rowspan="3" | 85
+
|rowspan="3" | 29
−
|1
  
−
|Trp -> Arg
  
−
|TGG -> CGG
  
−
|-
  
−
|2
  
−
|Leu -> Ser
  
−
|TTG -> TCG
  
−
|-
  
−
|3
  
−
|Leu -> Leu
  
−
|CTT -> CTC
  
−
|-
  
−
|rowspan="3" | 85
 
−
|1
  
−
|Val -> Leu
  
−
|GTG -> CTG
  
−
|-
  
−
|2
  
−
|Cys -> Ser
  
−
|TGT -> TCT
  
−
|-
  
−
|3
  
−
|Leu -> Leu
  
−
|CTG -> CTC
  
−
|-
  
−
|rowspan="3" | 85
 
−
|1
  
−
|Cys -> Arg
  
−
|TGC -> CGC
  
−
|-
  
−
|2
  
−
|Met -> Thr
  
−
|ATG -> ACG
  
−
|-
  
−
|3
  
−
|Tyr -> Tyr
  
−
|TAT -> TAC
  
−
|-
  
−
|rowspan="3" | 358
 
−
|1
  
−
|Asp -> His
  
−
|GAT -> CAT
  
−
|-
  
−
|2
  
−
|Arg -> Thr
  
−
|AGA -> ACA
  
−
|-
  
−
|3
  
−
|Glu -> His
  
−
|CAG -> CAC
  
−
|-
  
−
|rowspan="3" | 85
 
−
|1
  
−
|Ala -> Pro
  
−
|GCT -> CCT
  
−
|-
  
−
|2
  
−
|Arg -> Pro
  
−
|CGC -> CCC
  
−
|-
  
−
|3
  
−
|Ser -> Ser
  
−
|TCG -> TCC
  
−
|-
  
−
|rowspan="3" | 269
 
−
|1
  
−
|Val -> Iso
  
−
|GTT -> ATT
  
−
|-
  
−
|2
  
−
|Gly -> Asp
  
−
|GGT -> GAT
  
−
|-
  
−
|3
  
−
|Trp -> TER
  
−
|TGG -> TGA
  
−
|-
  
−
|rowspan="3" | 269
 
−
|1
  
−
|TER -> Arg
  
−
|TGA -> CGA
  
−
|-
  
−
|2
  
−
|Leu -> Pro
  
−
|CTG -> CCG
  
−
|-
  
−
|3
  
−
|Pro -> Pro
  
−
|CCT -> CCC
  
−
|-
  
−
|rowspan="3" | 138
 
−
|1
  
−
|Asp -> Lys
  
−
|GAG -> AAG
  
−
|-
  
−
|2
  
−
|Arg -> Lys
  
−
|AGA -> AAA
  
−
|-
  
−
|3
  
−
|Lys -> Lys
  
−
|AAG -> AAA
  
−
|-
  
−
|rowspan="3" | 85
 
 
|1
  
|1
 
|Phe -> Leu
  
|Phe -> Leu
Line 557: Line 299:
 
|-
  
|-
 
|2
  
|2
−
|Phe -> Ser
 +
|Val -> Ala
−
|TTT -> TCT
 +
|GTT -> GCT
 
|-
  
|-
 
|3
  
|3
−
|Phe -> Phe
 +
|Cys -> Cys
−
|TTT -> TTC
 +
|TGT -> TGC
−
|-
  
−
|rowspan="3" | 138
 
−
|1
  
−
|Asp -> Lys
  
−
|GAA -> AAA
  
−
|-
  
−
|2
  
−
|TER -> TER
  
−
|TGA -> TAA
  
−
|-
  
−
|3
  
−
|Leu -> Leu
  
−
|TTG -> TTA
  
−
|-
  
−
|rowspan="3" | 85
 
−
|1
  
−
|Val -> Iso
  
−
|GTA -> ATA
  
−
|-
  
−
|2
  
−
|Cys -> Tyr
  
−
|TGT -> TAT
  
−
|-
  
−
|3
  
−
|Leu -> Leu
  
−
|TTG -> TTA
  
 
|-
  
|-
 
|rowspan="3" | 109
 
|rowspan="3" | 109
Line 603: Line 319:
 
|ACT -> ACC
  
|ACT -> ACC
 
|-
  
|-
−
|rowspan="3" | 191
+
|rowspan="3" | 179
 
|1
  
|1
−
|Ala -> Thr
 +
|Val -> Leu
−
|GCC -> ACC
 +
|GTA -> CTA
 
|-
  
|-
 
|2
  
|2
−
|Arg -> His
 +
|Ser -> Thr
−
|CGC -> CAC
 +
|AGT -> ACT
−
|-
  
−
|3
  
−
|Ser -> Ser
  
−
|TCG -> TCA
  
−
|-
  
−
|rowspan="3" | 138
 
−
|1
  
−
|Glu -> Lys
  
−
|CAA -> AAA
  
−
|-
  
−
|2
  
−
|Thr -> Lys
  
−
|ACA -> AAA
  
 
|-
  
|-
 
|3
  
|3
 
|Asp -> Asp
  
|Asp -> Asp
−
|GAC -> GAA
 +
|GAG -> GAC
 
|-
  
|-
−
|rowspan="3" | 85
+
|rowspan="3" | 203
 
|1
  
|1
−
|Cys -> Arg
 +
|STOP -> Arg
−
|TGT -> CGT
 +
|TGA -> CGA
 
|-
  
|-
 
|2
  
|2
Line 639: Line 342:
 
|-
  
|-
 
|3
  
|3
−
|Pro -> Pro
 +
|Thr -> Thr
−
|CCT -> CCC
 +
|ACT -> ACC
 
|-
  
|-
−
|rowspan="3" | 85
+
|rowspan="3" | 208
 
|1
  
|1
−
|Asp -> Asn
 +
|Leu -> Leu
−
|GAT -> AAT
 +
|TTG -> CTG
 
|-
  
|-
 
|2
  
|2
−
|TER -> TER
 +
|Iso -> Thr
−
|TGA -> TAA
 +
|ATT -> ACT
 
|-
  
|-
 
|3
  
|3
−
|Met -> Iso
 +
|Tyr -> Tyr
−
|ATG -> ATA
 +
|TAT -> TAC
 
|-
  
|-
−
|rowspan="3" | 116
+
|rowspan="3" | 248
 
|1
  
|1
−
|Ser -> Ala
 +
|Asp -> Lys
−
|TCT -> GCT
 +
|GAA -> AAA
 
|-
  
|-
 
|2
  
|2
−
|Phe -> Cys
 +
|Arg -> Glu
−
|TTC -> TGC
 +
|CGA -> CAA
 
|-
  
|-
 
|3
  
|3
−
|Iso -> Met
 +
|Pro -> Pro
−
|ATT -> ATG
 +
|CCG -> CCA
 
|-
  
|-
−
|rowspan="3" | 85
+
|rowspan="6" | 324
  +
|rowspan="2" | 1
−
|1
  
−
|Glu -> Lys
 +
|TER -> Arg
−
|CAG -> AAG
 +
|TGA -> AGA
 
|-
  
|-
  +
|TER -> Arg
−
|2
  
−
|Thr -> Lys
 +
|TGA -> CGA
−
|ACA -> AAA
  
 
|-
  
|-
  +
|rowspan="2" | 2
−
|3
  
−
|Asp -> Asp
 +
|Leu -> TER
−
|GAC -> GAA
 +
|TTG -> TAG
 
|-
  
|-
  +
|Leu -> Ser
−
|rowspan="3" | 85
 
  +
|TTG -> TCG
−
|1
  
−
|Ser -> Pro
  
−
|TCT -> CCT
  
 
|-
  
|-
  +
|rowspan="3" | 446
−
|2
  
−
|Phe -> Ser
  
−
|TTC -> TCC
  
−
|-
  
−
|3
  
−
|Leu -> Leu
  
−
|CTT -> CTC
  
−
|-
  
−
|rowspan="3" | 474
 
 
|1
  
|1
−
|Trp -> Arg
 +
|Gly -> Arg
−
|TGG -> CGG
 +
|GGG -> AGG
 
|-
  
|-
 
|2
  
|2
−
|Met -> Thr
 +
|Arg -> Glu
−
|ATG -> ACG
 +
|CGG -> CAG
−
|-
  
−
|3
  
−
|Tyr -> Tyr
  
−
|TAT -> TAC
  
−
|-
  
−
|rowspan="3" | 85
 
−
|1
  
−
|Ala -> Thr
  
−
|GCT -> ACT
  
−
|-
  
−
|2
  
−
|Arg -> His
  
−
|CGC -> CAC
  
 
|-
  
|-
 
|3
  
|3
 
|Ser -> Ser
  
|Ser -> Ser
 
|TCG -> TCA
  
|TCG -> TCA
−
|-
  
−
|rowspan="3" | 540
 
−
|1
  
−
|TER -> Glu
  
−
|TAG -> CAG
  
−
|-
  
−
|2
  
−
|Iso -> Thr
  
−
|ATA -> ACA
  
−
|-
  
−
|3
  
−
|His -> His
  
−
|CAT -> CAC
  
 
|-
  
|-
 
|rowspan="3" | 476
 
|rowspan="3" | 476
Line 746: Line 412:
 
|AAG -> AAA
  
|AAG -> AAA
 
|-
  
|-
−
|rowspan="3" | 29
+
|rowspan="3" | 540
 
|1
  
|1
−
|Phe -> Leu
 +
|STOP -> Glu
−
|TTC -> CTC
  
−
|-
  
−
|2
  
−
|Val -> Ala
  
−
|GTT -> GCT
  
−
|-
  
−
|3
  
−
|Cys -> Cys
  
−
|TGT -> TGC
  
−
|-
  
−
|rowspan="3" | 85
 
−
|1
  
−
|Trp -> Arg
  
−
|TGG -> CGG
  
−
|-
  
−
|2
  
−
|Leu -> Ser
  
−
|TTG -> TCG
  
−
|-
  
−
|3
  
−
|Phe -> Phe
  
−
|TTT -> TTC
  
−
|-
  
−
|rowspan="3" | 85
 
−
|1
  
−
|Leu -> Iso
  
−
|CTA -> ATA
  
−
|-
  
−
|2
  
−
|Ser -> Tyr
  
−
|TCT -> TAT
  
−
|-
  
−
|3
  
−
|Phe -> Leu
  
−
|TTC -> TTA
  
−
|-
  
−
|rowspan="3" | 138
 
−
|1
  
−
|Asp -> Lys
  
−
|GAG -> AAG
  
−
|-
  
−
|2
  
−
|TER -> TER
  
−
|TGA -> TAA
  
−
|-
  
−
|3
  
−
|Leu -> Leu
  
−
|CTG -> CTA
  
−
|-
  
−
|rowspan="3" | 85
 
−
|1
  
−
|Gly -> Arg
  
−
|GGA -> AGA
  
−
|-
  
−
|2
  
−
|Arg -> Lys
  
−
|AGG -> AAG
  
−
|-
  
−
|3
  
−
|TER -> TER
  
−
|TAG -> TAA
  
−
|-
  
−
|rowspan="3" | 85
 
−
|1
  
−
|Val -> Leu
  
−
|GTC -> CTC
  
−
|-
  
−
|2
  
−
|Gly -> Ala
  
−
|GGT -> GCT
  
−
|-
  
−
|3
  
−
|Gly -> Gly
  
−
|GGG -> GGC
  
−
|-
  
−
|rowspan="3" | 208
 
−
|1
  
−
|Leu -> Leu
  
−
|TTG -> CTG
  
−
|-
  
−
|2
  
−
|Iso -> Thr
  
−
|ATT -> ACT
  
−
|-
  
−
|3
  
−
|Tyr -> Tyr
  
−
|TAT -> TAC
  
−
|-
  
−
|rowspan="3" | 358
 
−
|1
  
−
|Trp -> Arg
  
−
|TGG -> AGG
  
−
|-
  
−
|2
  
−
|Leu -> Glu
  
−
|CTG -> CAG
  
−
|-
  
−
|3
  
−
|Pro -> Pro
  
−
|CCT -> CCA
  
−
|-
  
−
|rowspan="3" | 358
 
−
|1
  
−
|Trp -> Gly
  
−
|TGG -> GGG
  
−
|-
  
−
|2
  
−
|Val -> Gly
  
−
|GTG -> GGG
  
−
|-
  
−
|3
  
−
|Ser -> Arg
  
−
|AGT -> AGG
  
−
|-
  
−
|rowspan="3" | 444
 
−
|1
  
−
|Ser -> Pro
  
−
|TCA -> CCA
  
−
|-
  
−
|2
  
−
|Phe -> Ser
  
−
|TTC -> TCC
  
−
|-
  
−
|3
  
−
|Leu -> Leu
  
−
|CTT -> CTC
  
−
|-
  
−
|rowspan="3" | 474
 
−
|1
  
−
|Leu -> Leu
  
−
|TTG -> CTG
  
−
|-
  
−
|2
  
−
|Val -> Ala
  
−
|GTT -> GCT
  
−
|-
  
−
|3
  
−
|Gly -> Gly
  
−
|GGT -> GGC
  
−
|-
  
−
|rowspan="3" | 509
 
−
|1
  
−
|TER -> Glu
  
 
|TAG -> CAG
  
|TAG -> CAG
 
|-
  
|-
Line 899: Line 422:
 
|-
  
|-
 
|3
  
|3
−
|Tyr -> Tyr
 +
|His -> His
−
|TAT -> TAC
 +
|CAT -> CAC
−
|-
  
−
|rowspan="3" | 85
 
−
|1
  
−
|Asp -> Glu
  
−
|GAG -> CAG
  
−
|-
  
−
|2
  
−
|TER -> Ser
  
−
|TGA -> TCA
  
−
|-
  
−
|3
  
−
|Val -> Val
  
−
|GTG -> GTC
  
−
|-
  
−
|rowspan="3" | 85
 
−
|1
  
−
|Val -> Leu
  
−
|GTT -> CTT
  
−
|-
  
−
|2
  
−
|Ser -> Thr
  
−
|AGT -> ACT
  
−
|-
  
−
|3
  
−
|Asp -> Asp
  
−
|GAG -> GAC
  
−
|-
  
−
|rowspan="3" | 3
 
−
|1
  
−
|Phe -> Leu
  
−
|TTC -> CTC
  
−
|-
  
−
|2
  
−
|Val -> Ala
  
−
|GTT -> GCT
  
−
|-
  
−
|3
  
−
|Ser -> Ser
  
−
|AGT -> AGC
  
−
|-
  
−
|rowspan="3" | 85
 
−
|1
  
−
|Glu -> Lys
  
−
|CAG -> AAG
  
−
|-
  
−
|2
  
−
|Ala -> Asp
  
−
|GCA -> GAA
  
−
|-
  
−
|3
  
−
|Cys -> TER
  
−
|TGC -> TGA
  
−
|-
  
−
|rowspan="3" | 85
 
−
|1
  
−
|Asp -> Asn
  
−
|GAC -> AAC
  
−
|-
  
−
|2
  
−
|Arg -> Glu
  
−
|CGA -> CAA
  
−
|-
  
−
|3
  
−
|Pro -> Pro
  
−
|CCG -> CCA
  
 
|-
  
|-
 
|}
  
|}

Revision as of 21:04, 14 June 2011

Comparison of mutations in HGMD and SNP-DB

  • Mutations annotated in both databases:

mutations which are not silent and cause a phenotype

Codonposition Mutationposition Amino Acids Codons
26 3 Trp -> TER TGGc -> TGA
39 2 Leu -> Arg CTT -> CGT
127 1 Leu -> Phe aCTC -> TTC
2 Leu -> Arg CTC -> CGC
137 1 Arg -> TER cCGA -> TGA
170 1 Arg -> Trp cCGG -> TGG
2 Arg -> Gln CGG -> CAG
178 2 Arg -> His CGC -> CAC
2 Arg -> Leu CGC -> CTC
1 Arg -> Cys tCGC -> TGC
180 3 Tyr -> TER TACc -> TAG
1 Tyr -> His tTAC -> CAC
197 2 Lys -> Thr AAA -> ACA
200 1 Val -> Met cGTG -> ATG
204 2 His -> Arg CAT -> CGT
210 2 Ser -> Phe TCC -> TTC
211 2 Phe -> Ser TTC -> TCC
247 1 Arg -> Trp aCGG -> TGG
250 1 Gly -> Ser gGGT -> AGT
2 Gly -> Asp GGT -> GAT
2 Gly -> Val GGT -> GTT
258 1 Asp -> His tGAC -> CAC
269 1 Gly -> Ser aGGT -> AGT
2 Gly -> Asp GGT -> GAT
301 2 Met -> Arg ATG -> AGG
329 2 Trp -> TER TGG -> TAG
393 1 Arg -> TER gCGA -> TGA
420 3 Trp -> Cys TGGt -> TGC
3 Trp -> Cys TGGt -> TGT
451 1 Leu -> Val tCTG -> GTG
454 2 Gly -> Asp GGT -> GAT
1 Gly -> Ser tGGT -> AGT
474 3 Trp -> Cys TGGc -> TGC
482 1 Glu -> Lys cGAA -> AAA
485 1 Trp -> Arg gTGG -> CGG
499 1 Arg -> Cys aCGT -> TGT
2 Arg -> His CGT -> CAT
504 1 Arg -> Cys cCGC -> TGC
2 Arg -> His CGC -> CAC

Graphical representation:

 MTSSRLWFSLLLAAAFAGRATALWPWPQNFQTSDQRYVLYPNNFQFQYDVSSAAQPGCSVLD
 MTSSRLWFSLLLAAAFAGRATALWP!PQNFQTSDQRYVRYPNNFQFQYDVSSAAQPGCSVLD
 
 
 EAFQRYRDLLFGSGSWPRPYLTGKRHTLEKNVLVVSVVTPGCNQLPTLESVENYTLTINDD
 EAFQRYRDLLFGSGSWPRPYLTGKRHTLEKNVLVVSVVTPGCNQLPTLESVENYTLTINDD
 
 
 QCLLLSETVWGALRGLETFSQLVWKSAEGTFFINKTEIEDFPRFPHRGLLLDTSRHYLPLS
 QCLFLSETVWGAL!GLETFSQLVWKSAEGTFFINKTEIEDFPRFPHWGLLLDTSHH!LPLS
 
 
 SILDTLDVMAYNKLNVFHWHLVDDPSFPYESFTFPELMRKGSYNPVTHIYTAQDVKEVIEY
 SILDTLDVMAYNTLNMFHWRLVDDPFSPYESFTFPELMRKGSYNPVTHIYTAQDVKEVIEY
 
 
 ARLRGIRVLAEFDTPGHTLSWGPGIPGLLTPCYSGSEPSGTFGPVNPSLNNTYEFMSTFFL
 AWLRSIRVLAEFHTPGHTLSWGPSIPGLLTPCYSGSEPSGTFGPVNPSLNNTYEFRSTFFL
 
 
 EVSSVFPDFYLHLGGDEVDFTCWKSNPEIQDFMRKKGFGEDFKQLESFYIQTLLDIVSSYG
 EVSSVFPDFYLHLGGDEVDFTC!KSNPEIQDFMRKKGFGEDFKQLESFYIQTLLDIVSSYG
 
 
 KGYVVWQEVFDNKVKIQPDTIIQVWREDIPVNYMKELELVTKAGFRALLSAPWYLNRISYG
 KGYVVWQEVFDNKVKIQPDTIIQVW!EDIPVNYMKELELVTKAGFRALLSAPCYLNRISYG
 
 
 PDWKDFYIVEPLAFEGTPEQKALVIGGEACMWGEYVDNTNLVPRLWPRAGAVAERLWSNKL
 PDWKDFYIVEPLAFEGTPEQKAVVIDGEACMWGEYVDNTNLVPRLCPRAGAVAKRLRSNKL

The non-silent mutations are colored in red. A "!" in the sequence means that there is a stop codon.
If there are more than one mutation at one position, we always used the first mutation in the graphical representation.

Mutations annotated only in HGMD: not found

Mutations annotated only in SNP-DB:

mutations annotated only in SNP-DB and not silent (pos in codon ist annotiert und sicher):

Codonposition Mutationposition Amino Acids Codons
293 2 Ser -> Ile AGT -> ATT
399 1 Asn -> Asp AAC -> GAC
436 1 Ile -> Val ATA -> GTA
456 2 Tyr -> Ser TAT -> TCT
506 3 Glu -> Asp GAA -> GAC
Glu -> Asp GAA -> GAT


mutations annotated only in SNP-DB and silent: (pos in codon ist annotiert und sicher)

Position Amino Acids Codons
506 Glu -> Glu GAA -> GAG


silent mutation (unklar an welcher stelle im codon wird nirgends annotiert):

Codonposition Mutationposition Amino Acids Codons
3 Val -> Val GTT -> GTA
Val -> Val GTT -> GTC
3 Val -> Val GTC -> GTA
3 1 Phe -> Leu TTC -> CTC
2 Val -> Ala GTT -> GCT
3 Ser -> Ser AGT -> AGC
29 1 Phe -> Leu TTC -> CTC
2 Val -> Ala GTT -> GCT
3 Cys -> Cys TGT -> TGC
109 1 Phe -> Leu TTT -> CTT
2 Leu -> Pro CTT -> CCT
3 Thr -> Thr ACT -> ACC
179 1 Val -> Leu GTA -> CTA
2 Ser -> Thr AGT -> ACT
3 Asp -> Asp GAG -> GAC
203 1 STOP -> Arg TGA -> CGA
2 Leu -> Pro CTG -> CCG
3 Thr -> Thr ACT -> ACC
208 1 Leu -> Leu TTG -> CTG
2 Iso -> Thr ATT -> ACT
3 Tyr -> Tyr TAT -> TAC
248 1 Asp -> Lys GAA -> AAA
2 Arg -> Glu CGA -> CAA
3 Pro -> Pro CCG -> CCA
324 1 TER -> Arg TGA -> AGA
TER -> Arg TGA -> CGA
2 Leu -> TER TTG -> TAG
Leu -> Ser TTG -> TCG
446 1 Gly -> Arg GGG -> AGG
2 Arg -> Glu CGG -> CAG
3 Ser -> Ser TCG -> TCA
476 1 Val -> Iso GTT -> ATT
2 Ser -> Asn AGT -> AAT
3 Lys -> Lys AAG -> AAA
540 1 STOP -> Glu TAG -> CAG
2 Iso -> Thr ATA -> ACA
3 His -> His CAT -> CAC
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