Paralogue Annotation for SCN5A residue 1045

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1045
Reference Amino Acid: V - Valine
Protein Domain: Interdomain Linker II-III


Paralogue Variants mapped to SCN5A residue 1045

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CACNA1Fp.A806VMRXMedium4

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.



SCN5A-----------------------------P>V<CVPIAVAESD------TDD-----------1058
SCN1AFINN----------------------PSLT>V<TVPIAVGESD------FEN-----------1126
SCN2AFINN----------------------PSLT>V<TVPIAVGESD------FEN-----------1116
SCN3AFINN----------------------PSLT>V<TVPIAVGESD------FEN-----------1114
SCN4AFINN----------------------PYLT>I<QVPIASEESD------LEM-----------935
SCN7ALIPS----------------------PSVS>E<TVPIASGESD------IEN-----------847
SCN8AFINN----------------------PNLT>V<RVPIAVGESD------FEN-----------1107
SCN9AFIHN----------------------PSLT>V<TVPIAPGESD------LEN-----------1089
SCN10AFIAN----------------------PTVW>V<SVPIAEGESD------LDD-----------1008
SCN11A-----------------------------T>W<LAPLAEEEDD------VEF-----------928
CACNA1ALEQPGFWEGEAERGKAGDPHRRHVHRQGGS>R<ESRSGSPRTG------ADGEHRRHRAHRR-964
CACNA1BKEAAGPPEARSERGR-------GPGPEGGR>R<HHRRGSPEEA------AEREPRRHRAHRH-941
CACNA1C--------------------GESK------>-<-------------------------EEKIE805
CACNA1D------------------------------>-<------------------------------
CACNA1EQQEAGGGEAVVTFED-----------RARH>R<QSQRRSRHRRVRTEGKESSSASRSRSASQE945
CACNA1F------------------------------><------------------------------
CACNA1GLGRA-----P-----------------SLK>R<RSPSGERRSL------LSG-----------1134
CACNA1HLGRA-----P-----------------SLK>R<RGQCGERESL------LSG-----------1169
CACNA1ILKHK-----P-------------------->-<--PSAEHESL------LSA-----------1009
CACNA1S------------------------------>-<------------------------------
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.V1045Mc.3133G>A Putative BenignSIFT: deleterious
Polyphen: benign