Paralogue Annotation for SCN5A residue 251

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 251
Reference Amino Acid: A - Alanine
Protein Domain: TM Domain 1


Paralogue Variants mapped to SCN5A residue 251

No paralogue variants have been mapped to residue 251 for SCN5A.



SCN5AFRVLRALKTISVIPGLKTIVGALIQSVKKL>A<DVMVLTVFCLSVFALIGLQLFMGNLRHKCV281
SCN1AFRVLRALKTISVIPGLKTIVGALIQSVKKL>S<DVMILTVFCLSVFALIGLQLFMGNLRNKCI278
SCN2AFRVLRALKTISVIPGLKTIVGALIQSVKKL>S<DVMILTVFCLSVFALIGLQLFMGNLRNKCL279
SCN3AFRVLRALKTISVIPGLKTIVGALIQSVKKL>S<DVMILTVFCLSVFALIGLQLFMGNLRNKCL278
SCN4AFRVLRALKTITVIPGLKTIVGALIQSVKKL>S<DVMILTVFCLSVFALVGLQLFMGNLRQKCV281
SCN7AARTLRILKIIPLNQGLKSLVGVLIHCLKQL>I<GVIILTLFFLSIFSLIGMGLFMGNLKHKCF268
SCN8AFRVLRALKTISVIPGLKTIVGALIQSVKKL>S<DVMILTVFCLSVFALIGLQLFMGNLRNKCV282
SCN9AFRVLRALKTISVIPGLKTIVGALIQSVKKL>S<DVMILTVFCLSVFALIGLQLFMGNLKHKCF276
SCN10AFRVLRALKTVSVIPGLKVIVGALIHSVKKL>A<DVTILTIFCLSVFALVGLQLFKGNLKNKCV277
SCN11AFRVFRALKAISVVSRLKVIVGALLRSVKKL>V<NVIILTFFCLSIFALVGQQLFMGSLNLKCI284
CACNA1AVRVLRPLKLVSGIPSLQVVLKSIMKAMIPL>L<QIGLLLFFAILIFAIIGLEFYMGKFHTTCF257
CACNA1BVRVLRPLKLVSGIPSLQVVLKSIMKAMVPL>L<QIGLLLFFAILMFAIIGLEFYMGKFHKACF254
CACNA1CFRVLRPLRLVSGVPSLQVVLNSIIKAMVPL>L<HIALLVLFVIIIYAIIGLELFMGKMHKTCY299
CACNA1DFRVLRPLRLVSGVPSLQVVLNSIIKAMVPL>L<HIALLVLFVIIIYAIIGLELFIGKMHKTCF302
CACNA1EVRVLRPLKLVSGIPSLQIVLKSIMKAMVPL>L<QIGLLLFFAILMFAIIGLEFYSGKLHRACF252
CACNA1FFRVLRPLRLVSGVPSLHIVLNSIMKALVPL>L<HIALLVLFVIIIYAIIGLELFLGRMHKTCY268
CACNA1GVRVLRPLRAINRVPSMRILVTLLLDTLPML>G<NVLLLCFFVFFIFGIVGVQLWAGLLRNRCF242
CACNA1HVRVLRPLRAINRVPSMRILVTLLLDTLPML>G<NVLLLCFFVFFIFGIVGVQLWAGLLRNRCF261
CACNA1IVRVLRPLKAINRVPSMRILVNLLLDTLPML>G<NVLLLCFFVFFIFGIIGVQLWAGLLRNRCF240
CACNA1SFRVLRPLRLVSGVPSLQVVLNSIFKAMLPL>F<HIALLVLFMVIIYAIIGLELFKGKMHKTCY227
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.A251Dc.752C>A Putative BenignSIFT: deleterious
Polyphen: probably damaging