Mapping SNPs HEXA

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Comparison of mutations in HGMD and SNP-DB

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