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

Mutations annotated only in HGMD: not found

Mutations annotated only in SNP-DB:

"{| border="1" style="text-align:center; border-spacing:0;" |- |Position |Amino Acids |Codons |- |rowspan="3" | 248 |Asp -> Lys |GAA -> AAA |- |Arg -> Glu |CGA -> CAA |- |Pro -> Pro |CCG -> CCA |- |rowspan="3" | 203 |STOP -> Arg |TGA -> CGA |- |Leu -> Pro |CTG -> CCG |- |Thr -> Thr |ACT -> ACC |- |rowspan="3" | 179 |Val -> Leu |GTA -> CTA |- |Ser -> Thr |AGT -> ACT |- |Asp -> Asp |GAG -> GAC |- |rowspan="3" | 191 |Asp -> Asn |GAC -> AAC |- |Arg -> Lys |AGA -> AAA |- |Asp -> Asp |GAG -> GAA |- |rowspan="3" | 116 |Phe -> Leu |TTC -> CTC |- |Leu -> Pro |CTT -> CCT |- |Thr -> Thr |ACT -> ACC |- |rowspan="3" | 116 |Ser -> Pro |TCC -> CCC |- |Phe -> Ser |TTC -> TCC |- |Val -> Val |GTT -> GTC |- |rowspan="3" | 446 |Gly -> Arg |GGG -> AGG |- |Arg -> Glu |CGG -> CAG |- |Ser -> Ser |TCG -> TCA |- |rowspan="4" | 324 |colspan="2" | STOP -> Arg |TGA -> CGA |- |STOP -> Arg |TGA -> AGA |- |test |972A>T -> 972A>T |- |Val -> Val |GTC -> GTA |- |rowspan="3" | 85 |Leu -> Leu |TTG -> CTG |- |Phe -> Ser |TTT -> TCT |- |Leu -> Leu |CTT -> CTC |- |rowspan="3" | 85 |Val -> Met |GTG -> ATG |- |Ser -> Asn |AGT -> AAT |- |Lys -> Lys |AAG -> AAA |- |rowspan="3" | 85 |Leu -> Leu |TTA -> CTA |- |Val -> Ala |GTT -> GCT |- |Gly -> Gly |GGT -> GGC |- |rowspan="3" | 85 |Tyr -> His |TAC -> CAC |- |Iso -> Thr |ATA -> ACA |- |Tyr -> Tyr |TAT -> TAC |- |rowspan="3" | 85 |Cys -> Arg |TGC -> CGC |- |Leu -> Pro |CTG -> CCG |- |Ser -> Ser |TCT -> TCC |- |rowspan="3" | 85 |Trp -> Arg |TGG -> CGG |- |Leu -> Ser |TTG -> TCG |- |Leu -> Leu |CTT -> CTC |- |rowspan="3" | 85 |Val -> Leu |GTG -> CTG |- |Cys -> Ser |TGT -> TCT |- |Leu -> Leu |CTG -> CTC |- |rowspan="3" | 85 |Cys -> Arg |TGC -> CGC |- |Met -> Thr |ATG -> ACG |- |Tyr -> Tyr |TAT -> TAC |- |rowspan="3" | 358 |Asp -> His |GAT -> CAT |- |Arg -> Thr |AGA -> ACA |- |Glu -> His |CAG -> CAC |- |rowspan="3" | 85 |Ala -> Pro |GCT -> CCT |- |Arg -> Pro |CGC -> CCC |- |Ser -> Ser |TCG -> TCC |- |rowspan="3" | 269 |Val -> Iso |GTT -> ATT |- |Gly -> Asp |GGT -> GAT |- |Trp -> STOP |TGG -> TGA |- |rowspan="3" | 269 |STOP -> Arg |TGA -> CGA |- |Leu -> Pro |CTG -> CCG |- |Pro -> Pro |CCT -> CCC |- |rowspan="3" | 138 |Asp -> Lys |GAG -> AAG |- |Arg -> Lys |AGA -> AAA |- |Lys -> Lys |AAG -> AAA |- |rowspan="3" | 85 |Phe -> Leu |TTC -> CTC |- |Phe -> Ser |TTT -> TCT |- |Phe -> Phe |TTT -> TTC |- |rowspan="3" | 138 |Asp -> Lys |GAA -> AAA |- |STOP -> STOP |TGA -> TAA |- |Leu -> Leu |TTG -> TTA |- |rowspan="3" | 85 |Val -> Iso |GTA -> ATA |- |Cys -> Tyr |TGT -> TAT |- |Leu -> Leu |TTG -> TTA |- |rowspan="3" | 109 |Phe -> Leu |TTT -> CTT |- |Leu -> Pro |CTT -> CCT |- |Thr -> Thr |ACT -> ACC |- |rowspan="3" | 191 |Ala -> Thr |GCC -> ACC |- |Arg -> His |CGC -> CAC |- |Ser -> Ser |TCG -> TCA |- |rowspan="3" | 138 |Glu -> Lys |CAA -> AAA |- |Thr -> Lys |ACA -> AAA |- |Asp -> Asp |GAC -> GAA |- |rowspan="3" | 85 |Cys -> Arg |TGT -> CGT |- |Leu -> Pro |CTG -> CCG |- |Pro -> Pro |CCT -> CCC |- |rowspan="3" | 85 |Asp -> Asn |GAT -> AAT |- |STOP -> STOP |TGA -> TAA |- |Met -> Iso |ATG -> ATA |- |rowspan="3" | 116 |Ser -> Ala |TCT -> GCT |- |Phe -> Cys |TTC -> TGC |- |Iso -> Met |ATT -> ATG |- |rowspan="3" | 85 |Glu -> Lys |CAG -> AAG |- |Thr -> Lys |ACA -> AAA |- |Asp -> Asp |GAC -> GAA |- |rowspan="3" | 85 |Ser -> Pro |TCT -> CCT |- |Phe -> Ser |TTC -> TCC |- |Leu -> Leu |CTT -> CTC |- |rowspan="3" | 474 |Trp -> Arg |TGG -> CGG |- |Met -> Thr |ATG -> ACG |- |Tyr -> Tyr |TAT -> TAC |- |rowspan="3" | 85 |Ala -> Thr |GCT -> ACT |- |Arg -> His |CGC -> CAC |- |Ser -> Ser |TCG -> TCA |- |rowspan="3" | 540 |STOP -> Glu |TAG -> CAG |- |Iso -> Thr |ATA -> ACA |- |His -> His |CAT -> CAC |- |rowspan="3" | 476 |Val -> Iso |GTT -> ATT |- |Ser -> Asn |AGT -> AAT |- |Lys -> Lys |AAG -> AAA |- |rowspan="3" | 29 |Phe -> Leu |TTC -> CTC |- |Val -> Ala |GTT -> GCT |- |Cys -> Cys |TGT -> TGC |- |rowspan="3" | 85 |Trp -> Arg |TGG -> CGG |- |Leu -> Ser |TTG -> TCG |- |Phe -> Phe |TTT -> TTC |- |rowspan="3" | 85 |Leu -> Iso |CTA -> ATA |- |Ser -> Tyr |TCT -> TAT |- |Phe -> Leu |TTC -> TTA |- |rowspan="3" | 138 |Asp -> Lys |GAG -> AAG |- |STOP -> STOP |TGA -> TAA |- |Leu -> Leu |CTG -> CTA |- |rowspan="3" | 85 |Gly -> Arg |GGA -> AGA |- |Arg -> Lys |AGG -> AAG |- |STOP -> STOP |TAG -> TAA |- |rowspan="3" | 85 |Val -> Leu |GTC -> CTC |- |Gly -> Ala |GGT -> GCT |- |Gly -> Gly |GGG -> GGC |- |rowspan="3" | 208 |Leu -> Leu |TTG -> CTG |- |Iso -> Thr |ATT -> ACT |- |Tyr -> Tyr |TAT -> TAC |- |rowspan="3" | 358 |Trp -> Arg |TGG -> AGG |- |Leu -> Glu |CTG -> CAG |- |Pro -> Pro |CCT -> CCA |- |rowspan="3" | 358 |Trp -> Gly |TGG -> GGG |- |Val -> Gly |GTG -> GGG |- |Ser -> Arg |AGT -> AGG |- |rowspan="3" | 444 |Ser -> Pro |TCA -> CCA |- |Phe -> Ser |TTC -> TCC |- |Leu -> Leu |CTT -> CTC |- |rowspan="3" | 474 |Leu -> Leu |TTG -> CTG |- |Val -> Ala |GTT -> GCT |- |Gly -> Gly |GGT -> GGC |- |rowspan="3" | 509 |STOP -> Glu |TAG -> CAG |- |Iso -> Thr |ATA -> ACA |- |Tyr -> Tyr |TAT -> TAC |- |rowspan="3" | 85 |Asp -> Glu |GAG -> CAG |- |STOP -> Ser |TGA -> TCA |- |Val -> Val |GTG -> GTC |- |rowspan="3" | 85 |Val -> Leu |GTT -> CTT |- |Ser -> Thr |AGT -> ACT |- |Asp -> Asp |GAG -> GAC |- |rowspan="3" | 3 |Phe -> Leu |TTC -> CTC |- |Val -> Ala |GTT -> GCT |- |Ser -> Ser |AGT -> AGC |- |rowspan="3" | 85 |Glu -> Lys |CAG -> AAG |- |Ala -> Asp |GCA -> GAA |- |Cys -> STOP |TGC -> TGA |- |rowspan="3" | 85 |Asp -> Asn |GAC -> AAC |- |Arg -> Glu |CGA -> CAA |- |Pro -> Pro |CCG -> CCA |- |}

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