Mapping SNPs HEXA
From Bioinformatikpedia
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
TSDLTFAYERLSHFRCELLRRGVQAQPLNVGFCEQEFEQT TSDLTFAYECLSHFCCELLRRGVQAQPLNVGFCEQEFEQT Non-silent mutation Silent mutation Wrong AA in mutation annotation
~
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 |
Graphical representation:
MTSSRLWFSLLLAAAFAGRATALWPWPQNFQTSDQRYVLYPNNFQFQYDVSSAAQPGCSVLD
MTSSRLWFSLLLAAAFAGRATALWPWPQNFQTSDQRYVLYPNNFQFQYDVSSAAQPGCSVLD
EAFQRYRDLLFGSGSWPRPYLTGKRHTLEKNVLVVSVVTPGCNQLPTLESVENYTLTINDD
EAFQRYRDLLFGSGSWPRPYLTGKRHTLEKNVLVVSVVTPGCNQLPTLESVENYTLTINDD
QCLLLSETVWGALRGLETFSQLVWKSAEGTFFINKTEIEDFPRFPHRGLLLDTSRHYLPLS
QCLLLSETVWGALRGLETFSQLVWKSAEGTFFINKTEIEDFPRFPHRGLLLDTSRHYLPLS
SILDTLDVMAYNKLNVFHWHLVDDPSFPYESFTFPELMRKGSYNPVTHIYTAQDVKEVIEY
SILDTLDVMAYNKLNVFHWHLVDDPSFPYESFTFPELMRKGSYNPVTHIYTAQDVKEVIEY
ARLRGIRVLAEFDTPGHTLSWGPGIPGLLTPCYSGSEPSGTFGPVNPSLNNTYEFMSTFFL
ARLRGIRVLAEFDTPGHTLSWGPGIPGLLTPCYSGSEPSGTFGPVNPILNNTYEFMSTFFL
EVSSVFPDFYLHLGGDEVDFTCWKSNPEIQDFMRKKGFGEDFKQLESFYIQTLLDIVSSYG
EVSSVFPDFYLHLGGDEVDFTCWKSNPEIQDFMRKKGFGEDFKQLESFYIQTLLDIVSSYG
KGYVVWQEVFDNKVKIQPDTIIQVWREDIPVNYMKELELVTKAGFRALLSAPWYLNRISYG
KGYVVWQEVFDNKVKIQPDTIIQVWREDIPVDYMKELELVTKAGFRALLSAPWYLNRISYG
PDWKDFYIVEPLAFEGTPEQKALVIGGEACMWGEYVDNTNLVPRLWPRAGAVAERLWSNKL
PDWKDFYVVEPLAFEGTPEQKALVIGGSACMWGEYVDNTNLVPRLWPRAGAVAERLWSNKL
TSDLTFAYERLSHFRCELLRRGVQAQPLNVGFCEQEFEQT TSDLTFAYERLSHFRCDLLRRGVQAQPLNVGFCEQEFEQT Non-silent mutation Silent mutation Wrong AA in mutation annotation
mutations annotated only in SNP-DB and silent: (pos in codon ist annotiert und sicher)
| Position | Amino Acids | Codons |
| 506 | Glu -> Glu | GAA -> GAG |
Graphical representation:
MTSSRLWFSLLLAAAFAGRATALWPWPQNFQTSDQRYVLYPNNFQFQYDVSSAAQPGCSVLD
MTSSRLWFSLLLAAAFAGRATALWPWPQNFQTSDQRYVLYPNNFQFQYDVSSAAQPGCSVLD
EAFQRYRDLLFGSGSWPRPYLTGKRHTLEKNVLVVSVVTPGCNQLPTLESVENYTLTINDD
EAFQRYRDLLFGSGSWPRPYLTGKRHTLEKNVLVVSVVTPGCNQLPTLESVENYTLTINDD
QCLLLSETVWGALRGLETFSQLVWKSAEGTFFINKTEIEDFPRFPHRGLLLDTSRHYLPLS
QCLLLSETVWGALRGLETFSQLVWKSAEGTFFINKTEIEDFPRFPHRGLLLDTSRHYLPLS
SILDTLDVMAYNKLNVFHWHLVDDPSFPYESFTFPELMRKGSYNPVTHIYTAQDVKEVIEY
SILDTLDVMAYNKLNVFHWHLVDDPSFPYESFTFPELMRKGSYNPVTHIYTAQDVKEVIEY
ARLRGIRVLAEFDTPGHTLSWGPGIPGLLTPCYSGSEPSGTFGPVNPSLNNTYEFMSTFFL
ARLRGIRVLAEFDTPGHTLSWGPGIPGLLTPCYSGSEPSGTFGPVNPSLNNTYEFMSTFFL
EVSSVFPDFYLHLGGDEVDFTCWKSNPEIQDFMRKKGFGEDFKQLESFYIQTLLDIVSSYG
EVSSVFPDFYLHLGGDEVDFTCWKSNPEIQDFMRKKGFGEDFKQLESFYIQTLLDIVSSYG
KGYVVWQEVFDNKVKIQPDTIIQVWREDIPVNYMKELELVTKAGFRALLSAPWYLNRISYG
KGYVVWQEVFDNKVKIQPDTIIQVWREDIPVNYMKELELVTKAGFRALLSAPWYLNRISYG
PDWKDFYIVEPLAFEGTPEQKALVIGGEACMWGEYVDNTNLVPRLWPRAGAVAERLWSNKL
PDWKDFYIVEPLAFEGTPEQKALVIGGEACMWGEYVDNTNLVPRLWPRAGAVAERLWSNKL
TSDLTFAYERLSHFRCELLRRGVQAQPLNVGFCEQEFEQT TSDLTFAYERLSHFRCELLRRGVQAQPLNVGFCEQEFEQT Non-silent mutation Silent mutation Wrong AA in mutation annotation
silent mutation (unklar an welcher stelle im codon wird nirgends annotiert):
| Codonposition | Mutationposition | Amino Acids | Codons |
| 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 | Ile -> 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 | ||
| 3 | Val -> Val | GTT -> GTA | |
| Val -> Val | GTT -> GTC | ||
| 446 | 1 | Gly -> Arg | GGG -> AGG |
| 2 | Arg -> Glu | CGG -> CAG | |
| 3 | Ser -> Ser | TCG -> TCA | |
| 476 | 1 | Val -> Ile | GTT -> ATT |
| 2 | Ser -> Asn | AGT -> AAT | |
| 3 | Lys -> Lys | AAG -> AAA | |
| 540 | 1 | STOP -> Glu | TAG -> CAG |
| 2 | Ile -> Thr | ATA -> ACA | |
| 3 | His -> His | CAT -> CAC |
Graphical representation:
MTSSRLWFSLLLAAAFAGRATALWPWPQNFQTSDQRYVLYPNNFQFQYDVSSAAQPGCSVLD
MTSSRLWFSLLLAAAFAGRATALWPWPQXFQTSDQRYVLYPNNFQFQYDVSSAAQPGCSVLD
EAFQRYRDLLFGSGSWPRPYLTGKRHTLEKNVLVVSVVTPGCNQLPTLESVENYTLTINDD
EAFQRYRDLLFGSGSWPRPYLTGKRHTLEKNVLVVSVVTPGCNQLPTLESVENYTLTINDD
QCLLLSETVWGALRGLETFSQLVWKSAEGTFFINKTEIEDFPRFPHRGLLLDTSRHYLPLS
QCLLLSETVWGALRGLETFSQLVWKSAEGTFFINKTEIEDFPRFPHRGLLLDTSRXYLPLS
SILDTLDVMAYNKLNVFHWHLVDDPSFPYESFTFPELMRKGSYNPVTHIYTAQDVKEVIEY
SILDTLDVMAYNKLNVFHXHLVDXPSFPYESFTFPELMRKGSYNPVTHIYTAQDVKEVIEY
ARLRGIRVLAEFDTPGHTLSWGPGIPGLLTPCYSGSEPSGTFGPVNPSLNNTYEFMSTFFL
ARXRGIRVLAEFDTPGHTLSWGPGIPGLLTPCYSGSEPSGTFGPVNPSLNNTYEFMSTFFL
EVSSVFPDFYLHLGGDEVDFTCWKSNPEIQDFMRKKGFGEDFKQLESFYIQTLLDIVSSYG
EVSSVFPDFYLHLGGDEVDFTCWKSNPEIQDFMRKKGFGEDFKQLESFYIQTLLDIVSSYG
KGYVVWQEVFDNKVKIQPDTIIQVWREDIPVNYMKELELVTKAGFRALLSAPWYLNRISYG
KGYVVWQEVFDNKVKIQPDTIIQVWREDIPVNYMKELELVTKAGFRALLSAPWYLNRISYG
PDWKDFYIVEPLAFEGTPEQKALVIGGEACMWGEYVDNTNLVPRLWPRAGAVAERLWSNKL
PDWKDFYIVEPLAFEGTXEQKALVIGGEACMWGEYVDNTNLVPRLWPXAGAVAERLWSNKL
TSDLTFAYERLSHFRCELLRRGVQAQPLNVGFCEQEFEQT TSDLTFAYERLSHFRCELLRRGVQAQPLNVGFCEQEFEQT Non-silent mutation Silent mutation Wrong AA in mutation annotation
