No paralogue variants have been mapped to residue 438 for SCN5A.
SCN5A | LAVVAMAYEEQNQATIAETEEK-EKRFQEA>M<EMLKK------------EHEALTIRGVDTV | 456 |
SCN1A | LAVVAMAYEEQNQATLEEAEQK-EAEFQQM>I<EQLKK------------QQEAAQQAATATA | 466 |
SCN2A | LAVVAMAYEEQNQATLEEAEQK-EAEFQQM>L<EQLKK------------QQEEAQAAAAAAS | 468 |
SCN3A | LAVVAMAYEEQNQATLEEAEQK-EAEFQQM>L<EQLKK------------QQEEAQAVAAASA | 467 |
SCN4A | LAVVAMAYAEQNEATLAEDKEK-EEEFQQM>L<EKFKK------------HQEELEKAKAAQA | 490 |
SCN7A | LGILAMAYEEEKQRVGEISKKI-EPKFQQT>G<KELQE------------GNETDEAK----- | 432 |
SCN8A | LAVVAMAYEEQNQATLEEAEQK-EAEFKAM>L<EQLKK------------QQEEAQAAAMATS | 454 |
SCN9A | LAVVAMAYEEQNQANIEEAKQK-ELEFQQM>L<DRLKK------------EQEEAEAIAAAAA | 445 |
SCN10A | LAVVTMAYEEQNQATTDEIEAK-EKKFQEA>L<EMLRK------------EQEVLAALGIDTT | 440 |
SCN11A | LAVVTMAYEEQNKNVAAEIEAK-EKMFQEA>Q<QLLKE------------EKEALVAMGIDRS | 443 |
CACNA1A | LGVLSGEFAKERERVENRRAFLKLRRQQQI>E<RELNG------------YMEWISKA-EE-- | 401 |
CACNA1B | LGVLSGEFAKERERVENRRAFLKLRRQQQI>E<RELNG------------YLEWIFKA-EE-- | 397 |
CACNA1C | LGVLSGEFSKEREKAKARGDFQKLREKQQL>E<EDLKG------------YLDWITQA-ED-- | 446 |
CACNA1D | LGVLSGEFSKEREKAKARGDFQKLREKQQL>E<EDLKG------------YLDWITQA-ED-- | 447 |
CACNA1E | LGVLSGEFAKERERVENRRAFMKLRRQQQI>E<RELNG------------YRAWIDKA-EE-- | 392 |
CACNA1F | LGVLSGEFSKEREKAKARGDFQKQREKQQM>E<EDLRG------------YLDWITQA-EE-- | 413 |
CACNA1G | LVVIATQFSETKQRESQLMREQRVRFLSNA>S<TLASFSEPGSCYEELLKYLVYILRKAAR-- | 449 |
CACNA1H | LVVIATQFSETKQRESQLMREQRARHLSND>S<TLASFSEPGSCYEELLKYVGHIFRKVKR-- | 473 |
CACNA1I | LVVIATQFSETKQREHRLMLEQRQRYLS-S>S<TVASYAEPGDCYEEIFQYVCHILRKAKR-- | 451 |
CACNA1S | LGVLSGEFTKEREKAKSRGTFQKLREKQQL>D<EDLRG------------YMSWITQG-EV-- | 375 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.M438T | c.1313T>C | Putative Benign | rs41311061 | SIFT: deleterious Polyphen: possibly damaging | |
p.M438V | c.1312A>G | Putative Benign | rs369440094 | SIFT: deleterious Polyphen: benign |