Paralogue Annotation for SCN5A residue 162

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 162
Reference Amino Acid: Y - Tyrosine
Protein Domain: TM Domain 1


Paralogue Variants mapped to SCN5A residue 162

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN10AY158DAtrial fibrillation, early-onsetHigh8 25053638, 25053638

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.



SCN5AILTNCVFMAQH------D-PPPWT--KYVE>Y<TFTA-IYTFESLVKILARGFCLHAFTFLRD191
SCN1AILTNCVFMTMS------N-PPDWT--KNVE>Y<TFTG-IYTFESLIKIIARGFCLEDFTFLRD188
SCN2AILTNCVFMTMS------N-PPDWT--KNVE>Y<TFTG-IYTFESLIKILARGFCLEDFTFLRD189
SCN3AILTNCVFMTLS------N-PPDWT--KNVE>Y<TFTG-IYTFESLIKILARGFCLEDFTFLRD188
SCN4AILTNCVFMTMS------D-PPPWS--KNVE>Y<TFTG-IYTFESLIKILARGFCVDDFTFLRD191
SCN7AVLIDCVFMSLT------N-LPKWR--PVLE>N<TLLG-IYTFEILVKLFARGVWAGSFSFLGD178
SCN8AILTNCVFMTFS------N-PPDWS--KNVE>Y<TFTG-IYTFESLVKIIARGFCIDGFTFLRD192
SCN9AILTNCIFMTMN------N-PPDWT--KNVE>Y<TFTG-IYTFESLVKILARGFCVGEFTFLRD186
SCN10AILVNCVCMTRT------D-LPE-----KIE>Y<VFTV-IYTFEALIKILARGFCLNEFTYLRD187
SCN11AVIINCVFMATGPA-K--NSNSNNT--DIAE>C<VFTG-IYIFEALIKILARGFILDEFSFLRD193
CACNA1AIIANCIVLALEQHLPDDDKTPMSERLDDTE>P<YFIG-IFCFEAGIKIIALGFAFHKGSYLRN167
CACNA1BIIANCIVLALEQHLPDGDKTPMSERLDDTE>P<YFIG-IFCFEAGIKIIALGFVFHKGSYLRN164
CACNA1CIFANCVALAIYIPFPEDDSNATNSNLERVE>Y<LFLI-IFTVEAFLKVIAYGLLFHPNAYLRN193
CACNA1DIFANCVALAIYIPFPEDDSNSTNHNLEKVE>Y<AFLI-IFTVETFLKIIAYGLLLHPNAYVRN195
CACNA1EIIANCIVLALEQHLPEDDKTPMSRRLEKTE>P<YFIG-IFCFEAGIKIVALGFIFHKGSYLRN158
CACNA1FIFANCVALGVYIPFPEDDSNTANHNLEQVE>Y<VFLV-IFTVETVLKIVAYGLVLHPSAYIRN161
CACNA1GILLNCVTLGMFRPCEDIACDSQRCRILQAF>D<DFIFAFFAVEMVVKMVALGI-FGKKCYLGD150
CACNA1HIMLNCVTLGMFRPCEDVECGSERCNILEAF>D<AFIFAFFAVEMVIKMVALGL-FGQKCYLGD169
CACNA1IILLNCVTLGMYQPCDDMDCLSDRCKILQVF>D<DFIFIFFAMEMVLKMVALGI-FGKKCYLGD148
CACNA1SIFANCVALAVYLPMPEDDNNSLNLGLEKLE>Y<FFLI-VFSIEAAMKIIAYGFLFHQDAYLRS120
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.Y162Cc.485A>G Putative BenignSIFT:
Polyphen:
p.Y162Hc.484T>C Putative BenignSIFT:
Polyphen: