Paralogue Annotation for SCN5A residue 1527

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1527
Reference Amino Acid: K - Lysine
Protein Domain: TM Domain 4


Paralogue Variants mapped to SCN5A residue 1527

No paralogue variants have been mapped to residue 1527 for SCN5A.



SCN5AKP--------QKPIPRPLNKYQGFIFDIVT>K<QAFDVTIMFLICLNMVTMMVETDDQSPEKI1557
SCN1AKP--------QKPIPRPGNKFQGMVFDFVT>R<QVFDISIMILICLNMVTMMVETDDQSEYVT1570
SCN2AKP--------QKPIPRPANKFQGMVFDFVT>K<QVFDISIMILICLNMVTMMVETDDQSQEMT1560
SCN3AKP--------QKPIPRPANKFQGMVFDFVT>R<QVFDISIMILICLNMVTMMVETDDQGKYMT1555
SCN4AKP--------QKPIPRPQNKIQGMVYDLVT>K<QAFDITIMILICLNMVTMMVETDNQSQLKV1382
SCN7ADS--------QRPVPRPLNKLQGFIFDVVT>S<QAFNVIVMVLICFQAIAMMIDTDVQSLQMS1280
SCN8AKP--------QKPIPRPLNKIQGIVFDFVT>Q<QAFDIVIMMLICLNMVTMMVETDTQSKQME1551
SCN9AKP--------QKPIPRPGNKIQGCIFDLVT>N<QAFDISIMVLICLNMVTMMVEKEGQSQHMT1533
SCN10AKP--------QKPIPRPLNKFQGFVFDIVT>R<QAFDITIMVLICLNMITMMVETDDQSEEKT1505
SCN11AKP--------QKPIPRPLNKCQGLVFDIVT>S<QIFDIIIISLIILNMISMMAESYNQPKAMK1395
CACNA1AKP-------LTRHMPQNKQSFQYRMWQFVV>S<PPFEYTIMAMIALNTIVLMMKFYGASVAYE1595
CACNA1BKP-------LTRYMPQNRQSFQYKTWTFVV>S<PPFEYFIMAMIALNTVVLMMKFYDAPYEYE1501
CACNA1CRP-------LRRYIPK--NQHQYKVWYVVN>S<TYFEYLMFVLILLNTICLAMQHYGQSCLFK1248
CACNA1DRP-------LRRYIPK--NPYQYKFWYVVN>S<SPFEYMMFVLIMLNTLCLAMQHYEQSKMFN1254
CACNA1EKP-------LTRYMPQNRHTFQYRVWHFVV>S<PSFEYTIMAMIALNTVVLMMKYYSAPCTYE1507
CACNA1FQP-------LRRYIPK--NPHQYRVWATVN>S<AAFEYLMFLLILLNTVALAMQHYEQTAPFN1219
CACNA1GSSASAASEAQCKPYYSDYSRFRLLVHHLCT>S<HYLDLFITGVIGLNVVTMAMEHYQQPQILD1640
CACNA1HQ---------RRPYYADYSPTRRSIHSLCT>S<HYLDLFITFIICVNVITMSMEHYNQPKSLD1646
CACNA1IQ---------RLPYYATYCHTRLLIHSMCT>S<HYLDIFITFIICLNVVTMSLEHYNQPTSLE1516
CACNA1SRP-------LRCYIPK--NPYQYQVWYIVT>S<SYFEYLMFALIMLNTICLGMQHYNQSEQMN1147
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.K1527Rc.4580A>G Inherited ArrhythmiaBrSrs199473270SIFT: tolerated
Polyphen: probably damaging
ReportsInherited ArrhythmiaBrS Double SCN5A mutation underlying asymptomatic Brugada syndrome. Heart Rhythm. 2005 2(3):285-92. 15851320