Paralogue Annotation for SCN5A residue 1598

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1598
Reference Amino Acid: V - Valine
Protein Domain: TM Domain 4


Paralogue Variants mapped to SCN5A residue 1598

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AV1611FMyoclonic epilepsy of infancyHigh9 12566275, 16210358
SCN8AV1592LEpileptic encephalopathyHigh9 25568300

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.



SCN5AAIFTGECIVKLAALR-HYYFTNSWNIFDFV>V<VILSIVGTVLSDIIQ---------------1613
SCN1AVLFTGECVLKLISLR-HYYFTIGWNIFDFV>V<VILSIVGMFLAELIE---------------1626
SCN2AVLFTGECVLKLISLR-YYYFTIGWNIFDFV>V<VILSIVGMFLAELIE---------------1616
SCN3AVLFTGEFVLKLVSLR-HYYFTIGWNIFDFV>V<VILSIVGMFLAEMIE---------------1611
SCN4AIIFTGECVLKMLALR-QYYFTVGWNIFDFV>V<VILSIVGLALSDLIQ---------------1438
SCN7AMLYTMECILKLIAFR-CFYFTIAWNIFDFM>V<VIFSITGLCLPMTVG---------------1336
SCN8AIFFTCECVLKMFALR-HYYFTIGWNIFDFV>V<VILSIVGMFLADIIE---------------1607
SCN9AILFTGECVLKLISLR-HYYFTVGWNIFDFV>V<VIISIVGMFLADLIE---------------1589
SCN10AAVFTGECVMKMFALR-QYYFTNGWNVFDFI>V<VVLSIASLIFSAILKS--------------1562
SCN11AVIFTLECLIKIFALR-QYYFTNGWNLFDCV>V<VLLSIVSTMISTLENQ--------------1452
CACNA1ASLFSLECVLKVMAFGILNYFRDAWNIFDFV>T<VLGSITDILVTEFGNN--------------1653
CACNA1BSMFSMECVLKIIAFGVLNYFRDAWNVFDFV>T<VLGSITDILVTEIAET--------------1559
CACNA1CGLFTVEMILKLIAFKPKHYFCDAWNTFDAL>I<VVGSIVDIAITEVNPAE----HTQ----CS1312
CACNA1DGVFTVEMVLKVIAFKPKGYFSDAWNTFDSL>I<VIGSIIDVALSEADPTE----SENVPVPTA1322
CACNA1EMVFSLECVLKVIAFGFLNYFRDTWNIFDFI>T<VIGSITEIILTDSKLV--------------1565
CACNA1FGLFTIEMVLKIIAFKPKHYFTDAWNTFDAL>I<VVGSIVDIAVTEVNNGG----HLG----E-1282
CACNA1GVIFVLESVFKLVAFGFRRFFQDRWNQLDLA>I<VLLSIMGITLEEIEVN--------------1698
CACNA1HIVFVFEAALKLVAFGFRRFFKDRWNQLDLA>I<VLLSLMGITLEEIEMS--------------1704
CACNA1ITVFVLEAVLKLVAFGLRRFFKDRWNQLDLA>I<VLLSVMGITLEEIEIN--------------1574
CACNA1SIIFTLEMILKLMAFKARGYFGDPWNVFDFL>I<VIGSIIDVILSEIDTFLASSGGLYCLGGGC1219
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.V1598Ac.4793T>C Putative BenignSIFT:
Polyphen: