No paralogue variants have been mapped to residue 1520 for SCN5A.
SCN5A | ---G-SKKP--------QKPIPRPLNKYQG>F<IFDIVTKQAFDVTIMFLICLNMVTMMVETD | 1550 |
SCN1A | ---G-SKKP--------QKPIPRPGNKFQG>M<VFDFVTRQVFDISIMILICLNMVTMMVETD | 1563 |
SCN2A | ---G-SKKP--------QKPIPRPANKFQG>M<VFDFVTKQVFDISIMILICLNMVTMMVETD | 1553 |
SCN3A | ---G-SKKP--------QKPIPRPANKFQG>M<VFDFVTRQVFDISIMILICLNMVTMMVETD | 1548 |
SCN4A | ---G-SKKP--------QKPIPRPQNKIQG>M<VYDLVTKQAFDITIMILICLNMVTMMVETD | 1375 |
SCN7A | ---M-YEDS--------QRPVPRPLNKLQG>F<IFDVVTSQAFNVIVMVLICFQAIAMMIDTD | 1273 |
SCN8A | ---G-SKKP--------QKPIPRPLNKIQG>I<VFDFVTQQAFDIVIMMLICLNMVTMMVETD | 1544 |
SCN9A | ---G-SKKP--------QKPIPRPGNKIQG>C<IFDLVTNQAFDISIMVLICLNMVTMMVEKE | 1526 |
SCN10A | ---G-SKKP--------QKPIPRPLNKFQG>F<VFDIVTRQAFDITIMVLICLNMITMMVETD | 1498 |
SCN11A | ---G-SKKP--------QKPIPRPLNKCQG>L<VFDIVTSQIFDIIIISLIILNMISMMAESY | 1388 |
CACNA1A | -----SAKP-------LTRHMPQNKQSFQY>R<MWQFVVSPPFEYTIMAMIALNTIVLMMKFY | 1588 |
CACNA1B | -----SAKP-------LTRYMPQNRQSFQY>K<TWTFVVSPPFEYFIMAMIALNTVVLMMKFY | 1494 |
CACNA1C | -----KARP-------LRRYIPK--NQHQY>K<VWYVVNSTYFEYLMFVLILLNTICLAMQHY | 1241 |
CACNA1D | -----KARP-------LRRYIPK--NPYQY>K<FWYVVNSSPFEYMMFVLIMLNTLCLAMQHY | 1247 |
CACNA1E | -----SAKP-------LTRYMPQNRHTFQY>R<VWHFVVSPSFEYTIMAMIALNTVVLMMKYY | 1500 |
CACNA1F | -----KAQP-------LRRYIPK--NPHQY>R<VWATVNSAAFEYLMFLLILLNTVALAMQHY | 1212 |
CACNA1G | ----ASGSSASAASEAQCKPYYSDYSRFRL>L<VHHLCTSHYLDLFITGVIGLNVVTMAMEHY | 1633 |
CACNA1H | TFPSPEAQ---------RRPYYADYSPTRR>S<IHSLCTSHYLDLFITFIICVNVITMSMEHY | 1639 |
CACNA1I | -----KAQ---------RLPYYATYCHTRL>L<IHSMCTSHYLDIFITFIICLNVVTMSLEHY | 1509 |
CACNA1S | -----KARP-------LRCYIPK--NPYQY>Q<VWYIVTSSYFEYLMFALIMLNTICLGMQHY | 1140 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.F1520L | c.4560C>G | Cardiomyopathy | DCM | rs199473642 | SIFT: tolerated Polyphen: benign |
Reports | Cardiomyopathy | DCM | SCN5A mutations associate with arrhythmic dilated cardiomyopathy and commonly localize to the voltage-sensing mechanism. J Am Coll Cardiol. 2011 57(21):2160-8. 21596231 |