Paralogue Annotation for SCN5A residue 400

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 400
Reference Amino Acid: G - Glycine
Protein Domain: TM Domain 1


Paralogue Variants mapped to SCN5A residue 400

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CACNA1FG359RNightblindness-associated transient tonic downgazeHigh9 20001510, 23714322

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.



SCN5AQDCWERLYQQTLRSAGKIY-MIFFMLVIFL>G<SFYLVNLILAVVAMAYEEQNQATIAETEEK430
SCN1AQDFWENLYQLTLRAAGKTY-MIFFVLVIFL>G<SFYLINLILAVVAMAYEEQNQATLEEAEQK440
SCN2AQDFWENLYQLTLRAAGKTY-MIFFVLVIFL>G<SFYLINLILAVVAMAYEEQNQATLEEAEQK442
SCN3AQDYWENLYQLTLRAAGKTY-MIFFVLVIFL>G<SFYLVNLILAVVAMAYEEQNQATLEEAEQK441
SCN4AQDYWENLFQLTLRAAGKTY-MIFFVVIIFL>G<SFYLINLILAVVAMAYAEQNEATLAEDKEK464
SCN7AQDYPEVLYHQILYASGKVY-MIFFVVVSFL>F<SFYMASLFLGILAMAYEEEKQRVGEISKKI411
SCN8AQDYWENLYQLTLRAAGKTY-MIFFVLVIFV>G<SFYLVNLILAVVAMAYEEQNQATLEEAEQK428
SCN9AQDYWENLYQQTLRAAGKTY-MIFFVVVIFL>G<SFYLINLILAVVAMAYEEQNQANIEEAKQK419
SCN10AQDSWERLYQQTLRTSGKIY-MIFFVLVIFL>G<SFYLVNLILAVVTMAYEEQNQATTDEIEAK414
SCN11AQDSWEKLYQQTLRTTGLYS-VFFFIVVIFL>G<SFYLINLTLAVVTMAYEEQNKNVAAEIEAK417
CACNA1AMEGWTDLLYNSNDASGNTWNWLYFIPLIII>G<SFFMLNLVLGVLSGEFAKERERVENRRAFL377
CACNA1BMEGWTDILYNTNDAAGNTWNWLYFIPLIII>G<SFFMLNLVLGVLSGEFAKERERVENRRAFL373
CACNA1CMEGWTDVLYWVNDAVGRDWPWIYFVTLIII>G<SFFVLNLVLGVLSGEFSKEREKAKARGDFQ422
CACNA1DMEGWTDVLYWVNDAIGWEWPWVYFVSLIIL>G<SFFVLNLVLGVLSGEFSKEREKAKARGDFQ423
CACNA1EMEGWTTVLYNTNDALGATWNWLYFIPLIII>G<SFFVLNLVLGVLSGEFAKERERVENRRAFM368
CACNA1FMEGWTDVLYWMQDAMGYELPWVYFVSLVIF>G<SFFVLNLVLGVLSGEFSKEREKAKARGDFQ389
CACNA1GLEGWVDIMYFVMDAHSF-YNFIYFILLIIV>G<SFFMINLCLVVIATQFSETKQRESQLMREQ412
CACNA1HLEGWVDIMYYVMDAHSF-YNFIYFILLIIV>G<SFFMINLCLVVIATQFSETKQRESQLMREQ436
CACNA1ILEGWVEIMYYVMDAHSF-YNFIYFILLIIV>G<SFFMINLCLVVIATQFSETKQREHRLMLEQ415
CACNA1SMEGWTDVLYWVNDAIGNEWPWIYFVTLILL>G<SFFILNLVLGVLSGEFTKEREKAKSRGTFQ351
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.G400Ac.1199G>C Other Cardiac PhenotypeSIFT: deleterious
Polyphen: probably damaging
ReportsOther Cardiac Phenotype Novel mutation in the SCN5A gene associated with arrhythmic storm development during acute myocardial infarction. Heart Rhythm. 2007 4(8):1072-80. 17675083
Other Cardiac Phenotype Genetic predisposition and cellular basis for ischemia-induced ST-segment changes and arrhythmias. J Electrocardiol. 2007 40(6 Suppl):S26-9. 17993325