Paralogue Annotation for SCN5A residue 125

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 125
Reference Amino Acid: V - Valine
Protein Domain: N-terminus


Paralogue Variants mapped to SCN5A residue 125

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN9AI120MDravet syndromeMedium9 23895530

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.



SCN5AVLNKGKTIFRFSATNALYVLSPFHPIRRAA>V<KILVHSLFNMLIMCTILTNCVFMAQH----151
SCN1AVLNKGKAIFRFSATSALYILTPFNPLRKIA>I<KILVHSLFSMLIMCTILTNCVFMTMS----148
SCN2AVLNKGKAISRFSATPALYILTPFNPIRKLA>I<KILVHSLFNMLIMCTILTNCVFMTMS----149
SCN3AVMNKGKAIFRFSATSALYILTPLNPVRKIA>I<KILVHSLFSMLIMCTILTNCVFMTLS----148
SCN4AVLNKGKAIFRFSATPALYLLSPFSVVRRGA>I<KVLIHALFSMFIMITILTNCVFMTMS----151
SCN7AVLNKNRTIFRFNAASILCTLSPFNCIRRTT>I<KVLVHPFFQLFILISVLIDCVFMSLT----138
SCN8AVLNRGKTLFRFSATPALYILSPFNLIRRIA>I<KILIHSVFSMIIMCTILTNCVFMTFS----152
SCN9AVLNKGKTIFRFNATPALYMLSPFSPLRRIS>I<KILVHSLFSMLIMCTILTNCIFMTMN----146
SCN10AVLNKGRTISRFSATRALWLFSPFNLIRRTA>I<KVSVHSWFSLFITVTILVNCVCMTRT----150
SCN11AVLNRKRTIYRFSAKHALFIFGPFNSIRSLA>I<RVSVHSLFSMFIIGTVIINCVFMATGPA-K152
CACNA1AYNPIPVRQNCLTVNRSLFLFSEDNVVRKYA>K<KITEWPPFEYMILATIIANCIVLALEQHLP122
CACNA1BYNPIPVKQNCFTVNRSLFVFSEDNVVRKYA>K<RITEWPPFEYMILATIIANCIVLALEQHLP119
CACNA1CKPKKQGSTTATRPPRALLCLTLKNPIRRAC>I<SIVEWKPFEIIILLTIFANCVALAIYIPFP148
CACNA1DKSKKQGNSSNSRPARALFCLSLNNPIRRAC>I<SIVEWKPFDIFILLAIFANCVALAIYIPFP150
CACNA1EYNPIPVRQNCFTVNRSLFIFGEDNIVRKYA>K<KLIDWPPFEYMILATIIANCIVLALEQHLP113
CACNA1FKHKTVAVASAQRSPRALFCLTLANPLRRSC>I<SIVEWKPFDILILLTIFANCVALGVYIPFP116
CACNA1GDSEAEGLPYPALAPVVFFYLSQDSRPRSWC>L<RTVCNPWFERISMLVILLNCVTLGMFRPCE105
CACNA1HADEEQRVPYPALAATVFFCLGQTTRPRSWC>L<RLVCNPWFEHVSMLVIMLNCVTLGMFRPCE124
CACNA1IG-ADPHVPHPDLAPIAFFCLRQTTSPRNWC>I<KMVCNPWFECVSMLVILLNCVTLGMYQPCD103
CACNA1SQPKKPVPEILPRPPRALFCLTLENPLRKAC>I<SIVEWKPFETIILLTIFANCVALAVYLPMP75
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.V125Gc.374T>G Putative BenignSIFT: deleterious
Polyphen: possibly damaging
p.V125Lc.373G>C Inherited ArrhythmiaLQTSSIFT: deleterious
Polyphen: benign
ReportsInherited ArrhythmiaLQTS Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. Heart Rhythm. 2005 2(5):507-17. 15840476
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
Inherited ArrhythmiaLQTS Characterization of N-terminally mutated cardiac Na(+) channels associated with long QT syndrome 3 and Brugada syndrome. Front Physiol. 2013 4:153. doi: 10.3389/fphys.2013.00153. eCollection 23805106
Unknown Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy. Heart. 2015 101(4):294-301. doi: 10.1136/heartjnl-2014-306387. 25351510