No paralogue variants have been mapped to residue 1521 for SCN5A.
SCN5A | --G-SKKP--------QKPIPRPLNKYQGF>I<FDIVTKQAFDVTIMFLICLNMVTMMVETDD | 1551 |
SCN1A | --G-SKKP--------QKPIPRPGNKFQGM>V<FDFVTRQVFDISIMILICLNMVTMMVETDD | 1564 |
SCN2A | --G-SKKP--------QKPIPRPANKFQGM>V<FDFVTKQVFDISIMILICLNMVTMMVETDD | 1554 |
SCN3A | --G-SKKP--------QKPIPRPANKFQGM>V<FDFVTRQVFDISIMILICLNMVTMMVETDD | 1549 |
SCN4A | --G-SKKP--------QKPIPRPQNKIQGM>V<YDLVTKQAFDITIMILICLNMVTMMVETDN | 1376 |
SCN7A | --M-YEDS--------QRPVPRPLNKLQGF>I<FDVVTSQAFNVIVMVLICFQAIAMMIDTDV | 1274 |
SCN8A | --G-SKKP--------QKPIPRPLNKIQGI>V<FDFVTQQAFDIVIMMLICLNMVTMMVETDT | 1545 |
SCN9A | --G-SKKP--------QKPIPRPGNKIQGC>I<FDLVTNQAFDISIMVLICLNMVTMMVEKEG | 1527 |
SCN10A | --G-SKKP--------QKPIPRPLNKFQGF>V<FDIVTRQAFDITIMVLICLNMITMMVETDD | 1499 |
SCN11A | --G-SKKP--------QKPIPRPLNKCQGL>V<FDIVTSQIFDIIIISLIILNMISMMAESYN | 1389 |
CACNA1A | ----SAKP-------LTRHMPQNKQSFQYR>M<WQFVVSPPFEYTIMAMIALNTIVLMMKFYG | 1589 |
CACNA1B | ----SAKP-------LTRYMPQNRQSFQYK>T<WTFVVSPPFEYFIMAMIALNTVVLMMKFYD | 1495 |
CACNA1C | ----KARP-------LRRYIPK--NQHQYK>V<WYVVNSTYFEYLMFVLILLNTICLAMQHYG | 1242 |
CACNA1D | ----KARP-------LRRYIPK--NPYQYK>F<WYVVNSSPFEYMMFVLIMLNTLCLAMQHYE | 1248 |
CACNA1E | ----SAKP-------LTRYMPQNRHTFQYR>V<WHFVVSPSFEYTIMAMIALNTVVLMMKYYS | 1501 |
CACNA1F | ----KAQP-------LRRYIPK--NPHQYR>V<WATVNSAAFEYLMFLLILLNTVALAMQHYE | 1213 |
CACNA1G | ---ASGSSASAASEAQCKPYYSDYSRFRLL>V<HHLCTSHYLDLFITGVIGLNVVTMAMEHYQ | 1634 |
CACNA1H | FPSPEAQ---------RRPYYADYSPTRRS>I<HSLCTSHYLDLFITFIICVNVITMSMEHYN | 1640 |
CACNA1I | ----KAQ---------RLPYYATYCHTRLL>I<HSMCTSHYLDIFITFIICLNVVTMSLEHYN | 1510 |
CACNA1S | ----KARP-------LRCYIPK--NPYQYQ>V<WYIVTSSYFEYLMFALIMLNTICLGMQHYN | 1141 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.I1521K | c.4562T>A | Inherited Arrhythmia | BrS | rs199473617 | SIFT: deleterious Polyphen: benign |
Reports | Inherited Arrhythmia | BrS | 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 |