Paralogue Annotation for SCN5A residue 265

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 265
Reference Amino Acid: A - Alanine
Protein Domain: TM Domain 1


Paralogue Variants mapped to SCN5A residue 265

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN2AA263VNeonatal epilepsy, late-onset ataxia, myoclonus & High9 20956790, 23550958, 27159988
SCN2AA263TEpileptic encephalopathy, early onsetHigh9 23935176

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.



SCN5AGLKTIVGALIQSVKKLADVMVLTVFCLSVF>A<LIGLQLFMGNLRHKCVR-------------282
SCN1AGLKTIVGALIQSVKKLSDVMILTVFCLSVF>A<LIGLQLFMGNLRNKCIQ-WP-PTNASLEEH290
SCN2AGLKTIVGALIQSVKKLSDVMILTVFCLSVF>A<LIGLQLFMGNLRNKCLQ-WP-PDNSSFEIN291
SCN3AGLKTIVGALIQSVKKLSDVMILTVFCLSVF>A<LIGLQLFMGNLRNKCLQ-WP-PSDSAFETN290
SCN4AGLKTIVGALIQSVKKLSDVMILTVFCLSVF>A<LVGLQLFMGNLRQKCVR-WP-PPFN--DTN291
SCN7AGLKSLVGVLIHCLKQLIGVIILTLFFLSIF>S<LIGMGLFMGNLKHKCFR-WP-QENE-----275
SCN8AGLKTIVGALIQSVKKLSDVMILTVFCLSVF>A<LIGLQLFMGNLRNKCVV-WP----------285
SCN9AGLKTIVGALIQSVKKLSDVMILTVFCLSVF>A<LIGLQLFMGNLKHKCFR-NS----------279
SCN10AGLKVIVGALIHSVKKLADVTILTIFCLSVF>A<LVGLQLFKGNLKNKCVK-N-----------279
SCN11ARLKVIVGALLRSVKKLVNVIILTFFCLSIF>A<LVGQQLFMGSLNLKCIS-R-----------286
CACNA1ASLQVVLKSIMKAMIPLLQIGLLLFFAILIF>A<IIGLEFYMGKFHTTCFE-E-GTD-------262
CACNA1BSLQVVLKSIMKAMVPLLQIGLLLFFAILMF>A<IIGLEFYMGKFHKACFP-N-STD-------259
CACNA1CSLQVVLNSIIKAMVPLLHIALLVLFVIIIY>A<IIGLELFMGKMHKTCYNQEGIAD-------306
CACNA1DSLQVVLNSIIKAMVPLLHIALLVLFVIIIY>A<IIGLELFIGKMHKTCFF-A-DSD-------307
CACNA1ESLQIVLKSIMKAMVPLLQIGLLLFFAILMF>A<IIGLEFYSGKLHRACFM-N-NSG-------257
CACNA1FSLHIVLNSIMKALVPLLHIALLVLFVIIIY>A<IIGLELFLGRMHKTCYF-L-GSD-------273
CACNA1GSMRILVTLLLDTLPMLGNVLLLCFFVFFIF>G<IVGVQLWAGLLRNRCFL-P-ENFSLPLSVD254
CACNA1HSMRILVTLLLDTLPMLGNVLLLCFFVFFIF>G<IVGVQLWAGLLRNRCFL-D-SAFVRNNNLT273
CACNA1ISMRILVNLLLDTLPMLGNVLLLCFFVFFIF>G<IIGVQLWAGLLRNRCFL-E-ENFTIQGDVA252
CACNA1SSLQVVLNSIFKAMLPLFHIALLVLFMVIIY>A<IIGLELFKGKMHKTCYF-I-GTD-------232
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.A265Vc.794C>T Putative BenignSIFT:
Polyphen: