Paralogue Annotation for SCN5A residue 267

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 267
Reference Amino Acid: I - Isoleucine
Protein Domain: TM Domain 1


Paralogue Variants mapped to SCN5A residue 267

No paralogue variants have been mapped to residue 267 for SCN5A.



SCN5AKTIVGALIQSVKKLADVMVLTVFCLSVFAL>I<GLQLFMGNLRHKCVR---------------282
SCN1AKTIVGALIQSVKKLSDVMILTVFCLSVFAL>I<GLQLFMGNLRNKCIQ-WP-PTNASLEEH-S291
SCN2AKTIVGALIQSVKKLSDVMILTVFCLSVFAL>I<GLQLFMGNLRNKCLQ-WP-PDNSSFEIN-I292
SCN3AKTIVGALIQSVKKLSDVMILTVFCLSVFAL>I<GLQLFMGNLRNKCLQ-WP-PSDSAFETN-T291
SCN4AKTIVGALIQSVKKLSDVMILTVFCLSVFAL>V<GLQLFMGNLRQKCVR-WP-PPFN--DTN-T292
SCN7AKSLVGVLIHCLKQLIGVIILTLFFLSIFSL>I<GMGLFMGNLKHKCFR-WP-QENE-------275
SCN8AKTIVGALIQSVKKLSDVMILTVFCLSVFAL>I<GLQLFMGNLRNKCVV-WP------------285
SCN9AKTIVGALIQSVKKLSDVMILTVFCLSVFAL>I<GLQLFMGNLKHKCFR-NS------------279
SCN10AKVIVGALIHSVKKLADVTILTIFCLSVFAL>V<GLQLFKGNLKNKCVK-N-------------279
SCN11AKVIVGALLRSVKKLVNVIILTFFCLSIFAL>V<GQQLFMGSLNLKCIS-R-------------286
CACNA1AQVVLKSIMKAMIPLLQIGLLLFFAILIFAI>I<GLEFYMGKFHTTCFE-E-GTD---------262
CACNA1BQVVLKSIMKAMVPLLQIGLLLFFAILMFAI>I<GLEFYMGKFHKACFP-N-STD---------259
CACNA1CQVVLNSIIKAMVPLLHIALLVLFVIIIYAI>I<GLELFMGKMHKTCYNQEGIAD---------306
CACNA1DQVVLNSIIKAMVPLLHIALLVLFVIIIYAI>I<GLELFIGKMHKTCFF-A-DSD---------307
CACNA1EQIVLKSIMKAMVPLLQIGLLLFFAILMFAI>I<GLEFYSGKLHRACFM-N-NSG---------257
CACNA1FHIVLNSIMKALVPLLHIALLVLFVIIIYAI>I<GLELFLGRMHKTCYF-L-GSD---------273
CACNA1GRILVTLLLDTLPMLGNVLLLCFFVFFIFGI>V<GVQLWAGLLRNRCFL-P-ENFSLPLSVD-L255
CACNA1HRILVTLLLDTLPMLGNVLLLCFFVFFIFGI>V<GVQLWAGLLRNRCFL-D-SAFVRNNNLTFL275
CACNA1IRILVNLLLDTLPMLGNVLLLCFFVFFIFGI>I<GVQLWAGLLRNRCFL-E-ENFTIQGDVA-L253
CACNA1SQVVLNSIFKAMLPLFHIALLVLFMVIIYAI>I<GLELFKGKMHKTCYF-I-GTD---------232
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.I267Lc.799A>C Inherited ArrhythmiaLQTSSIFT: deleterious
Polyphen: benign
ReportsInherited ArrhythmiaLQTS Cardiac channel molecular autopsy: insights from 173 consecutive cases of autopsy-negative sudden unexplained death referred for postmortem genetic testing. Mayo Clin Proc. 2012 87(6):524-39. doi: 10.1016/j.mayocp.2012.02.017. 22677073
p.I267Vc.799A>G Putative BenignSIFT: tolerated
Polyphen: possibly damaging