No paralogue variants have been mapped to residue 1251 for SCN5A.
SCN5A | ALAFEDIYLEERKTIKVLLEYADKMFTYVF>V<LEMLLKWVAYGF----KKYFTNAWCWLDFL | 1277 |
SCN1A | ALAFEDIYIDQRKTIKTMLEYADKVFTYIF>I<LEMLLKWVAYGY----QTYFTNAWCWLDFL | 1290 |
SCN2A | ALAFEDIYIEQRKTIKTMLEYADKVFTYIF>I<LEMLLKWVAYGF----QVYFTNAWCWLDFL | 1280 |
SCN3A | ALAFEDIYIEQRKTIKTMLEYADKVFTYIF>I<LEMLLKWVAYGF----QTYFTNAWCWLDFL | 1278 |
SCN4A | ALAFEDIYIEQRRVIRTILEYADKVFTYIF>I<MEMLLKWVAYGF----KVYFTNAWCWLDFL | 1103 |
SCN7A | TLAFEDIYMDQRKTIKILLEYADMIFTYIF>I<LEMLLKWMAYGF----KAYFSNGWYRLDFV | 1006 |
SCN8A | ALAFEDIYIEQRKTIRTILEYADKVFTYIF>I<LEMLLKWTAYGF----VKFFTNAWCWLDFL | 1270 |
SCN9A | ALAFEDIYIERKKTIKIILEYADKIFTYIF>I<LEMLLKWIAYGY----KTYFTNAWCWLDFL | 1253 |
SCN10A | SLAFEDYYLDQKPTVKALLEYTDRVFTFIF>V<FEMLLKWVAYGF----KKYFTNAWCWLDFL | 1224 |
SCN11A | ALIFEDVHLENQPKIQELLNCTDIIFTHIF>I<LEMVLKWVAFGF----GKYFTSAWCCLDFI | 1128 |
CACNA1A | ALAAEDPV-QPNAPRNNVLRYFDYVFTGVF>T<FEMVIKMIDLGLVLHQGAYFRDLWNILDFI | 1319 |
CACNA1B | ALAAEDPV-RTDSPRNNALKYLDYIFTGVF>T<FEMVIKMIDLGLLLHPGAYFRDLWNILDFI | 1226 |
CACNA1C | SLAAEDPV-QHTSFRNHILFYFDIVFTTIF>T<IEIALKMTAYGAFLHKGSFCRNYFNILDLL | 975 |
CACNA1D | ALAAEDPI-RSHSFRNTILGYFDYAFTAIF>T<VEILLKMTTFGAFLHKGAFCRNYFNLLDML | 981 |
CACNA1E | ALAAEDPV-LTNSERNKVLRYFDYVFTGVF>T<FEMVIKMIDQGLILQDGSYFRDLWNILDFV | 1228 |
CACNA1F | SLAAEDPI-RAHSFRNHILGYFDYAFTSIF>T<VEILLKMTVFGAFLHRGSFCRSWFNMLDLL | 946 |
CACNA1G | TIAMERPKIDPHSAERIFLTLSNYIFTAVF>L<AEMTVKVVALGWCFGEQAYLRSSWNVLDGL | 1352 |
CACNA1H | TIALERPDIDPGSTERVFLSVSNYIFTAIF>V<AEMMVKVVALGLLSGEHAYLQSSWNLLDGL | 1370 |
CACNA1I | TIALERPQIEAGSTERIFLTVSNYIFTAIF>V<GEMTLKVVSLGLYFGEQAYLRSSWNVLDGF | 1246 |
CACNA1S | ALAAEDPI-RADSMRNQILKHFDIGFTSVF>T<VEIVLKMTTYGAFLHKGSFCRNYFNMLDLL | 874 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V1251M | c.3751G>A | Putative Benign | rs199473600 | SIFT: deleterious Polyphen: probably damaging | |
Reports | Putative Benign | Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300 | |||
Putative Benign | An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing. Heart Rhythm. 2010 7(1):33-46. 20129283 |