Paralogue Annotation for SCN5A residue 1593

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1593
Reference Amino Acid: I - Isoleucine
Protein Domain: TM Domain 4


Paralogue Variants mapped to SCN5A residue 1593

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN2AI1596SNeonatal-infantile seizures ?High9 17386050

To assess whether the paralogue annotation here confidently predicts that variation at this residue is pathogenic, it is important to check the reports in the Pubmed links above to ascertain that the mutations in these paralogues have been proved likely to be disease-causing. It is also important to check that the direction of effect of the variant in the paralogue is compatible with your observed phenotype in SCN5A.



SCN5ANLLFVAIFTGECIVKLAALR-HYYFTNSWN>I<FDFVVVILSIVGTVLSDIIQ----------1613
SCN1ANLVFIVLFTGECVLKLISLR-HYYFTIGWN>I<FDFVVVILSIVGMFLAELIE----------1626
SCN2ANLVFIVLFTGECVLKLISLR-YYYFTIGWN>I<FDFVVVILSIVGMFLAELIE----------1616
SCN3ANLVFIVLFTGEFVLKLVSLR-HYYFTIGWN>I<FDFVVVILSIVGMFLAEMIE----------1611
SCN4ANMIFIIIFTGECVLKMLALR-QYYFTVGWN>I<FDFVVVILSIVGLALSDLIQ----------1438
SCN7ANSIFVMLYTMECILKLIAFR-CFYFTIAWN>I<FDFMVVIFSITGLCLPMTVG----------1336
SCN8ANLVFVIFFTCECVLKMFALR-HYYFTIGWN>I<FDFVVVILSIVGMFLADIIE----------1607
SCN9ANVVFIILFTGECVLKLISLR-HYYFTVGWN>I<FDFVVVIISIVGMFLADLIE----------1589
SCN10ANQFFVAVFTGECVMKMFALR-QYYFTNGWN>V<FDFIVVVLSIASLIFSAILKS---------1562
SCN11ANWVFVVIFTLECLIKIFALR-QYYFTNGWN>L<FDCVVVLLSIVSTMISTLENQ---------1452
CACNA1ANIVFTSLFSLECVLKVMAFGILNYFRDAWN>I<FDFVTVLGSITDILVTEFGNN---------1653
CACNA1BNIVFTSMFSMECVLKIIAFGVLNYFRDAWN>V<FDFVTVLGSITDILVTEIAET---------1559
CACNA1CNMLFTGLFTVEMILKLIAFKPKHYFCDAWN>T<FDALIVVGSIVDIAITEVNPAE----HTQ-1310
CACNA1DNMVFTGVFTVEMVLKVIAFKPKGYFSDAWN>T<FDSLIVIGSIIDVALSEADPTE----SENV1317
CACNA1ENIAFTMVFSLECVLKVIAFGFLNYFRDTWN>I<FDFITVIGSITEIILTDSKLV---------1565
CACNA1FNMVFTGLFTIEMVLKIIAFKPKHYFTDAWN>T<FDALIVVGSIVDIAVTEVNNGG----HLG-1281
CACNA1GNYIFTVIFVLESVFKLVAFGFRRFFQDRWN>Q<LDLAIVLLSIMGITLEEIEVN---------1698
CACNA1HNYVFTIVFVFEAALKLVAFGFRRFFKDRWN>Q<LDLAIVLLSLMGITLEEIEMS---------1704
CACNA1INYMFTTVFVLEAVLKLVAFGLRRFFKDRWN>Q<LDLAIVLLSVMGITLEEIEIN---------1574
CACNA1SNVAFTIIFTLEMILKLMAFKARGYFGDPWN>V<FDFLIVIGSIIDVILSEIDTFLASSGGLYC1214
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.I1593Mc.4779C>G Inherited ArrhythmiaLQTSSIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. Heart Rhythm. 2009 6(9):1297-303. 19716085