Paralogue Annotation for SCN5A residue 259

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 259
Reference Amino Acid: F - Phenylalanine
Protein Domain: TM Domain 1


Paralogue Variants mapped to SCN5A residue 259

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN8AF260SEpileptic encephalopathyHigh9 25568300, 26252990

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.



SCN5ATISVIPGLKTIVGALIQSVKKLADVMVLTV>F<CLSVFALIGLQLFMGNLRHKCVR-------282
SCN1ATISVIPGLKTIVGALIQSVKKLSDVMILTV>F<CLSVFALIGLQLFMGNLRNKCIQ-WP-PTN284
SCN2ATISVIPGLKTIVGALIQSVKKLSDVMILTV>F<CLSVFALIGLQLFMGNLRNKCLQ-WP-PDN285
SCN3ATISVIPGLKTIVGALIQSVKKLSDVMILTV>F<CLSVFALIGLQLFMGNLRNKCLQ-WP-PSD284
SCN4ATITVIPGLKTIVGALIQSVKKLSDVMILTV>F<CLSVFALVGLQLFMGNLRQKCVR-WP-PPF287
SCN7AIIPLNQGLKSLVGVLIHCLKQLIGVIILTL>F<FLSIFSLIGMGLFMGNLKHKCFR-WP-QEN274
SCN8ATISVIPGLKTIVGALIQSVKKLSDVMILTV>F<CLSVFALIGLQLFMGNLRNKCVV-WP----285
SCN9ATISVIPGLKTIVGALIQSVKKLSDVMILTV>F<CLSVFALIGLQLFMGNLKHKCFR-NS----279
SCN10ATVSVIPGLKVIVGALIHSVKKLADVTILTI>F<CLSVFALVGLQLFKGNLKNKCVK-N-----279
SCN11AAISVVSRLKVIVGALLRSVKKLVNVIILTF>F<CLSIFALVGQQLFMGSLNLKCIS-R-----286
CACNA1ALVSGIPSLQVVLKSIMKAMIPLLQIGLLLF>F<AILIFAIIGLEFYMGKFHTTCFE-E-GTD-262
CACNA1BLVSGIPSLQVVLKSIMKAMVPLLQIGLLLF>F<AILMFAIIGLEFYMGKFHKACFP-N-STD-259
CACNA1CLVSGVPSLQVVLNSIIKAMVPLLHIALLVL>F<VIIIYAIIGLELFMGKMHKTCYNQEGIAD-306
CACNA1DLVSGVPSLQVVLNSIIKAMVPLLHIALLVL>F<VIIIYAIIGLELFIGKMHKTCFF-A-DSD-307
CACNA1ELVSGIPSLQIVLKSIMKAMVPLLQIGLLLF>F<AILMFAIIGLEFYSGKLHRACFM-N-NSG-257
CACNA1FLVSGVPSLHIVLNSIMKALVPLLHIALLVL>F<VIIIYAIIGLELFLGRMHKTCYF-L-GSD-273
CACNA1GAINRVPSMRILVTLLLDTLPMLGNVLLLCF>F<VFFIFGIVGVQLWAGLLRNRCFL-P-ENFS248
CACNA1HAINRVPSMRILVTLLLDTLPMLGNVLLLCF>F<VFFIFGIVGVQLWAGLLRNRCFL-D-SAFV267
CACNA1IAINRVPSMRILVNLLLDTLPMLGNVLLLCF>F<VFFIFGIIGVQLWAGLLRNRCFL-E-ENFT246
CACNA1SLVSGVPSLQVVLNSIFKAMLPLFHIALLVL>F<MVIIYAIIGLELFKGKMHKTCYF-I-GTD-232
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 259 for SCN5A.