No paralogue variants have been mapped to residue 433 for SCN5A.
SCN5A | LVNLILAVVAMAYEEQNQATIAETEEK-EK>R<FQEAMEMLKK------------EHEALTIR | 451 |
SCN1A | LINLILAVVAMAYEEQNQATLEEAEQK-EA>E<FQQMIEQLKK------------QQEAAQQA | 461 |
SCN2A | LINLILAVVAMAYEEQNQATLEEAEQK-EA>E<FQQMLEQLKK------------QQEEAQAA | 463 |
SCN3A | LVNLILAVVAMAYEEQNQATLEEAEQK-EA>E<FQQMLEQLKK------------QQEEAQAV | 462 |
SCN4A | LINLILAVVAMAYAEQNEATLAEDKEK-EE>E<FQQMLEKFKK------------HQEELEKA | 485 |
SCN7A | MASLFLGILAMAYEEEKQRVGEISKKI-EP>K<FQQTGKELQE------------GNETDEAK | 432 |
SCN8A | LVNLILAVVAMAYEEQNQATLEEAEQK-EA>E<FKAMLEQLKK------------QQEEAQAA | 449 |
SCN9A | LINLILAVVAMAYEEQNQANIEEAKQK-EL>E<FQQMLDRLKK------------EQEEAEAI | 440 |
SCN10A | LVNLILAVVTMAYEEQNQATTDEIEAK-EK>K<FQEALEMLRK------------EQEVLAAL | 435 |
SCN11A | LINLTLAVVTMAYEEQNKNVAAEIEAK-EK>M<FQEAQQLLKE------------EKEALVAM | 438 |
CACNA1A | MLNLVLGVLSGEFAKERERVENRRAFLKLR>R<QQQIERELNG------------YMEWISKA | 399 |
CACNA1B | MLNLVLGVLSGEFAKERERVENRRAFLKLR>R<QQQIERELNG------------YLEWIFKA | 395 |
CACNA1C | VLNLVLGVLSGEFSKEREKAKARGDFQKLR>E<KQQLEEDLKG------------YLDWITQA | 444 |
CACNA1D | VLNLVLGVLSGEFSKEREKAKARGDFQKLR>E<KQQLEEDLKG------------YLDWITQA | 445 |
CACNA1E | VLNLVLGVLSGEFAKERERVENRRAFMKLR>R<QQQIERELNG------------YRAWIDKA | 390 |
CACNA1F | VLNLVLGVLSGEFSKEREKAKARGDFQKQR>E<KQQMEEDLRG------------YLDWITQA | 411 |
CACNA1G | MINLCLVVIATQFSETKQRESQLMREQRVR>F<LSNASTLASFSEPGSCYEELLKYLVYILRK | 446 |
CACNA1H | MINLCLVVIATQFSETKQRESQLMREQRAR>H<LSNDSTLASFSEPGSCYEELLKYVGHIFRK | 470 |
CACNA1I | MINLCLVVIATQFSETKQREHRLMLEQRQR>Y<LS-SSTVASYAEPGDCYEEIFQYVCHILRK | 448 |
CACNA1S | ILNLVLGVLSGEFTKEREKAKSRGTFQKLR>E<KQQLDEDLRG------------YMSWITQG | 373 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R433C | c.1297C>T | Putative Benign | rs374866214 | SIFT: deleterious Polyphen: probably damaging | |
p.R433S | c.1297C>A | Putative Benign | SIFT: Polyphen: |