Paralogue Annotation for SCN5A residue 1553

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1553
Reference Amino Acid: S - Serine
Protein Domain: TM Domain 4


Paralogue Variants mapped to SCN5A residue 1553

No paralogue variants have been mapped to residue 1553 for SCN5A.



SCN5ADIVTKQAFDVTIMFLICLNMVTMMVETDDQ>S<PEKINILAKINLLFVAIFTGECIVKLAALR1583
SCN1ADFVTRQVFDISIMILICLNMVTMMVETDDQ>S<EYVTTILSRINLVFIVLFTGECVLKLISLR1596
SCN2ADFVTKQVFDISIMILICLNMVTMMVETDDQ>S<QEMTNILYWINLVFIVLFTGECVLKLISLR1586
SCN3ADFVTRQVFDISIMILICLNMVTMMVETDDQ>G<KYMTLVLSRINLVFIVLFTGEFVLKLVSLR1581
SCN4ADLVTKQAFDITIMILICLNMVTMMVETDNQ>S<QLKVDILYNINMIFIIIFTGECVLKMLALR1408
SCN7ADVVTSQAFNVIVMVLICFQAIAMMIDTDVQ>S<LQMSIALYWINSIFVMLYTMECILKLIAFR1306
SCN8ADFVTQQAFDIVIMMLICLNMVTMMVETDTQ>S<KQMENILYWINLVFVIFFTCECVLKMFALR1577
SCN9ADLVTNQAFDISIMVLICLNMVTMMVEKEGQ>S<QHMTEVLYWINVVFIILFTGECVLKLISLR1559
SCN10ADIVTRQAFDITIMVLICLNMITMMVETDDQ>S<EEKTKILGKINQFFVAVFTGECVMKMFALR1531
SCN11ADIVTSQIFDIIIISLIILNMISMMAESYNQ>P<KAMKSILDHLNWVFVVIFTLECLIKIFALR1421
CACNA1AQFVVSPPFEYTIMAMIALNTIVLMMKFYGA>S<VAYENALRVFNIVFTSLFSLECVLKVMAFG1621
CACNA1BTFVVSPPFEYFIMAMIALNTVVLMMKFYDA>P<YEYELMLKCLNIVFTSMFSMECVLKIIAFG1527
CACNA1CYVVNSTYFEYLMFVLILLNTICLAMQHYGQ>S<CLFKIAMNILNMLFTGLFTVEMILKLIAFK1274
CACNA1DYVVNSSPFEYMMFVLIMLNTLCLAMQHYEQ>S<KMFNDAMDILNMVFTGVFTVEMVLKVIAFK1280
CACNA1EHFVVSPSFEYTIMAMIALNTVVLMMKYYSA>P<CTYELALKYLNIAFTMVFSLECVLKVIAFG1533
CACNA1FATVNSAAFEYLMFLLILLNTVALAMQHYEQ>T<APFNYAMDILNMVFTGLFTIEMVLKIIAFK1245
CACNA1GHLCTSHYLDLFITGVIGLNVVTMAMEHYQQ>P<QILDEALKICNYIFTVIFVLESVFKLVAFG1666
CACNA1HSLCTSHYLDLFITFIICVNVITMSMEHYNQ>P<KSLDEALKYCNYVFTIVFVFEAALKLVAFG1672
CACNA1ISMCTSHYLDIFITFIICLNVVTMSLEHYNQ>P<TSLETALKYCNYMFTTVFVLEAVLKLVAFG1542
CACNA1SYIVTSSYFEYLMFALIMLNTICLGMQHYNQ>S<EQMNHISDILNVAFTIIFTLEMILKLMAFK1173
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.S1553Rc.4657A>C Inherited ArrhythmiaBrSSIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaBrS Identification of six novel SCN5A mutations in Japanese patients with Brugada syndrome. Int Heart J. 2011 52(1):27-31. 21321465