Paralogue Annotation for SCN5A residue 1521

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1521
Reference Amino Acid: I - Isoleucine
Protein Domain: Interdomain Linker III-IV


Paralogue Variants mapped to SCN5A residue 1521

No paralogue variants have been mapped to residue 1521 for SCN5A.



SCN5A--G-SKKP--------QKPIPRPLNKYQGF>I<FDIVTKQAFDVTIMFLICLNMVTMMVETDD1551
SCN1A--G-SKKP--------QKPIPRPGNKFQGM>V<FDFVTRQVFDISIMILICLNMVTMMVETDD1564
SCN2A--G-SKKP--------QKPIPRPANKFQGM>V<FDFVTKQVFDISIMILICLNMVTMMVETDD1554
SCN3A--G-SKKP--------QKPIPRPANKFQGM>V<FDFVTRQVFDISIMILICLNMVTMMVETDD1549
SCN4A--G-SKKP--------QKPIPRPQNKIQGM>V<YDLVTKQAFDITIMILICLNMVTMMVETDN1376
SCN7A--M-YEDS--------QRPVPRPLNKLQGF>I<FDVVTSQAFNVIVMVLICFQAIAMMIDTDV1274
SCN8A--G-SKKP--------QKPIPRPLNKIQGI>V<FDFVTQQAFDIVIMMLICLNMVTMMVETDT1545
SCN9A--G-SKKP--------QKPIPRPGNKIQGC>I<FDLVTNQAFDISIMVLICLNMVTMMVEKEG1527
SCN10A--G-SKKP--------QKPIPRPLNKFQGF>V<FDIVTRQAFDITIMVLICLNMITMMVETDD1499
SCN11A--G-SKKP--------QKPIPRPLNKCQGL>V<FDIVTSQIFDIIIISLIILNMISMMAESYN1389
CACNA1A----SAKP-------LTRHMPQNKQSFQYR>M<WQFVVSPPFEYTIMAMIALNTIVLMMKFYG1589
CACNA1B----SAKP-------LTRYMPQNRQSFQYK>T<WTFVVSPPFEYFIMAMIALNTVVLMMKFYD1495
CACNA1C----KARP-------LRRYIPK--NQHQYK>V<WYVVNSTYFEYLMFVLILLNTICLAMQHYG1242
CACNA1D----KARP-------LRRYIPK--NPYQYK>F<WYVVNSSPFEYMMFVLIMLNTLCLAMQHYE1248
CACNA1E----SAKP-------LTRYMPQNRHTFQYR>V<WHFVVSPSFEYTIMAMIALNTVVLMMKYYS1501
CACNA1F----KAQP-------LRRYIPK--NPHQYR>V<WATVNSAAFEYLMFLLILLNTVALAMQHYE1213
CACNA1G---ASGSSASAASEAQCKPYYSDYSRFRLL>V<HHLCTSHYLDLFITGVIGLNVVTMAMEHYQ1634
CACNA1HFPSPEAQ---------RRPYYADYSPTRRS>I<HSLCTSHYLDLFITFIICVNVITMSMEHYN1640
CACNA1I----KAQ---------RLPYYATYCHTRLL>I<HSMCTSHYLDIFITFIICLNVVTMSLEHYN1510
CACNA1S----KARP-------LRCYIPK--NPYQYQ>V<WYIVTSSYFEYLMFALIMLNTICLGMQHYN1141
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.I1521Kc.4562T>A Inherited ArrhythmiaBrSrs199473617SIFT: deleterious
Polyphen: benign
ReportsInherited ArrhythmiaBrS 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