Paralogue Annotation for SCN5A residue 1608

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1608
Reference Amino Acid: L - Leucine
Protein Domain: TM Domain 4


Paralogue Variants mapped to SCN5A residue 1608

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN4AL1433RHyperkalaemic periodic paralysisHigh9 8388676, 7809121

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.



SCN5ALAALR-HYYFTNSWNIFDFVVVILSIVGTV>L<SDIIQ----------------------KYF1616
SCN1ALISLR-HYYFTIGWNIFDFVVVILSIVGMF>L<AELIE----------------------KYF1629
SCN2ALISLR-YYYFTIGWNIFDFVVVILSIVGMF>L<AELIE----------------------KYF1619
SCN3ALVSLR-HYYFTIGWNIFDFVVVILSIVGMF>L<AEMIE----------------------KYF1614
SCN4AMLALR-QYYFTVGWNIFDFVVVILSIVGLA>L<SDLIQ----------------------KYF1441
SCN7ALIAFR-CFYFTIAWNIFDFMVVIFSITGLC>L<PMTVG----------------------SYL1339
SCN8AMFALR-HYYFTIGWNIFDFVVVILSIVGMF>L<ADIIE----------------------KYF1610
SCN9ALISLR-HYYFTVGWNIFDFVVVIISIVGMF>L<ADLIE----------------------TYF1592
SCN10AMFALR-QYYFTNGWNVFDFIVVVLSIASLI>F<SAILKS--------------------LQSY1566
SCN11AIFALR-QYYFTNGWNLFDCVVVLLSIVSTM>I<STLENQ--------------------EHIP1456
CACNA1AVMAFGILNYFRDAWNIFDFVTVLGSITDIL>V<TEFGNN-----------------------F1654
CACNA1BIIAFGVLNYFRDAWNVFDFVTVLGSITDIL>V<TEIAET---------------------NNF1562
CACNA1CLIAFKPKHYFCDAWNTFDALIVVGSIVDIA>I<TEVNPAE----HTQ----CSPSMNAEENSR1322
CACNA1DVIAFKPKGYFSDAWNTFDSLIVIGSIIDVA>L<SEADPTE----SENVPVPTATPGNSEESNR1332
CACNA1EVIAFGFLNYFRDTWNIFDFITVIGSITEII>L<TDSKLV--------------------NTSG1569
CACNA1FIIAFKPKHYFTDAWNTFDALIVVGSIVDIA>V<TEVNNGG----HLG----E----SSEDSSR1289
CACNA1GLVAFGFRRFFQDRWNQLDLAIVLLSIMGIT>L<EEIEVN--------------------ASLP1702
CACNA1HLVAFGFRRFFKDRWNQLDLAIVLLSLMGIT>L<EEIEMS--------------------AALP1708
CACNA1ILVAFGLRRFFKDRWNQLDLAIVLLSVMGIT>L<EEIEIN--------------------AALP1578
CACNA1SLMAFKARGYFGDPWNVFDFLIVIGSIIDVI>L<SEIDTFLASSGGLYCLGGGCGNVDPDESAR1229
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 1608 for SCN5A.