No paralogue variants have been mapped to residue 1515 for SCN5A.
SCN5A | KK-L----G-SKKP--------QKPIPRPL>N<KYQGFIFDIVTKQAFDVTIMFLICLNMVTM | 1545 |
SCN1A | KK-L----G-SKKP--------QKPIPRPG>N<KFQGMVFDFVTRQVFDISIMILICLNMVTM | 1558 |
SCN2A | KK-L----G-SKKP--------QKPIPRPA>N<KFQGMVFDFVTKQVFDISIMILICLNMVTM | 1548 |
SCN3A | KK-L----G-SKKP--------QKPIPRPA>N<KFQGMVFDFVTRQVFDISIMILICLNMVTM | 1543 |
SCN4A | KK-L----G-SKKP--------QKPIPRPQ>N<KIQGMVYDLVTKQAFDITIMILICLNMVTM | 1370 |
SCN7A | KK-L----M-YEDS--------QRPVPRPL>N<KLQGFIFDVVTSQAFNVIVMVLICFQAIAM | 1268 |
SCN8A | KK-L----G-SKKP--------QKPIPRPL>N<KIQGIVFDFVTQQAFDIVIMMLICLNMVTM | 1539 |
SCN9A | KK-L----G-SKKP--------QKPIPRPG>N<KIQGCIFDLVTNQAFDISIMVLICLNMVTM | 1521 |
SCN10A | KK-L----G-SKKP--------QKPIPRPL>N<KFQGFVFDIVTRQAFDITIMVLICLNMITM | 1493 |
SCN11A | KK-L----G-SKKP--------QKPIPRPL>N<KCQGLVFDIVTSQIFDIIIISLIILNMISM | 1383 |
CACNA1A | DFAI------SAKP-------LTRHMPQNK>Q<SFQYRMWQFVVSPPFEYTIMAMIALNTIVL | 1583 |
CACNA1B | DFAI------SAKP-------LTRYMPQNR>Q<SFQYKTWTFVVSPPFEYFIMAMIALNTVVL | 1489 |
CACNA1C | EYAL------KARP-------LRRYIPK-->N<QHQYKVWYVVNSTYFEYLMFVLILLNTICL | 1236 |
CACNA1D | EYAL------KARP-------LRRYIPK-->N<PYQYKFWYVVNSSPFEYMMFVLIMLNTLCL | 1242 |
CACNA1E | DFAI------SAKP-------LTRYMPQNR>H<TFQYRVWHFVVSPSFEYTIMAMIALNTVVL | 1495 |
CACNA1F | EYAL------KAQP-------LRRYIPK-->N<PHQYRVWATVNSAAFEYLMFLLILLNTVAL | 1207 |
CACNA1G | DDVI-----ASGSSASAASEAQCKPYYSDY>S<RFRLLVHHLCTSHYLDLFITGVIGLNVVTM | 1628 |
CACNA1H | RRRRSTFPSPEAQ---------RRPYYADY>S<PTRRSIHSLCTSHYLDLFITFIICVNVITM | 1634 |
CACNA1I | KKRR------KAQ---------RLPYYATY>C<HTRLLIHSMCTSHYLDIFITFIICLNVVTM | 1504 |
CACNA1S | QYAL------KARP-------LRCYIPK-->N<PYQYQVWYIVTSSYFEYLMFALIMLNTICL | 1135 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.N1515S | c.4544A>G | Putative Benign | rs373404919 | SIFT: deleterious Polyphen: benign |