Paralogue Annotation for SCN5A residue 275

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 275
Reference Amino Acid: N - Asparagine
Protein Domain: TM Domain 1


Paralogue Variants mapped to SCN5A residue 275

No paralogue variants have been mapped to residue 275 for SCN5A.



SCN5AQSVKKLADVMVLTVFCLSVFALIGLQLFMG>N<LRHKCVR--------------------NFT285
SCN1AQSVKKLSDVMILTVFCLSVFALIGLQLFMG>N<LRNKCIQ-WP-PTNASLEEH-SI-EKNITV298
SCN2AQSVKKLSDVMILTVFCLSVFALIGLQLFMG>N<LRNKCLQ-WP-PDNSSFEIN-ITSFFNNSL300
SCN3AQSVKKLSDVMILTVFCLSVFALIGLQLFMG>N<LRNKCLQ-WP-PSDSAFETN-TTSYFNGTM299
SCN4AQSVKKLSDVMILTVFCLSVFALVGLQLFMG>N<LRQKCVR-WP-PPFN--DTN-TTWYSNDTW300
SCN7AHCLKQLIGVIILTLFFLSIFSLIGMGLFMG>N<LKHKCFR-WP-QENE---------------275
SCN8AQSVKKLSDVMILTVFCLSVFALIGLQLFMG>N<LRNKCVV-WP-------------------I286
SCN9AQSVKKLSDVMILTVFCLSVFALIGLQLFMG>N<LKHKCFR-NS-------------------L280
SCN10AHSVKKLADVTILTIFCLSVFALVGLQLFKG>N<LKNKCVK-N-------------------DM281
SCN11ARSVKKLVNVIILTFFCLSIFALVGQQLFMG>S<LNLKCIS-R-------------------DC288
CACNA1AKAMIPLLQIGLLLFFAILIFAIIGLEFYMG>K<FHTTCFE-E-GTD------------DI---264
CACNA1BKAMVPLLQIGLLLFFAILMFAIIGLEFYMG>K<FHKACFP-N-STD------------A----260
CACNA1CKAMVPLLHIALLVLFVIIIYAIIGLELFMG>K<MHKTCYNQEGIAD-------------V---307
CACNA1DKAMVPLLHIALLVLFVIIIYAIIGLELFIG>K<MHKTCFF-A-DSD-------------I---308
CACNA1EKAMVPLLQIGLLLFFAILMFAIIGLEFYSG>K<LHRACFM-N-NSG------------IL---259
CACNA1FKALVPLLHIALLVLFVIIIYAIIGLELFLG>R<MHKTCYF-L-GSD-------------M---274
CACNA1GDTLPMLGNVLLLCFFVFFIFGIVGVQLWAG>L<LRNRCFL-P-ENFSLPLSVD-LE-RYYQT-261
CACNA1HDTLPMLGNVLLLCFFVFFIFGIVGVQLWAG>L<LRNRCFL-D-SAFVRNNNLTFLR-PYYQT-281
CACNA1IDTLPMLGNVLLLCFFVFFIFGIIGVQLWAG>L<LRNRCFL-E-ENFTIQGDVA-LP-PYYQP-259
CACNA1SKAMLPLFHIALLVLFMVIIYAIIGLELFKG>K<MHKTCYF-I-GTD-------------I---233
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.N275Kc.825C>A Inherited ArrhythmiaLQTSSIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS Prevalence of early-onset atrial fibrillation in congenital long QT syndrome. Heart Rhythm. 2008 5(5):704-9. 18452873
Inherited ArrhythmiaLQTS Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. Heart Rhythm. 2009 6(9):1297-303. 19716085