Paralogue Annotation for SCN5A residue 1685

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1685
Reference Amino Acid: E - Glutamate
Protein Domain: TM Domain 4


Paralogue Variants mapped to SCN5A residue 1685

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CACNA1AD1726NHemiplgic migraine ?Medium6 20837964

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.



SCN5AIGLLLFLVMFIYSIFGMANFAYVKW----->E<AG-----IDDMFNFQTFANSMLCLFQITTS1710
SCN1AIGLLLFLVMFIYAIFGMSNFAYVKR----->E<VG-----IDDMFNFETFGNSMICLFQITTS1723
SCN2AIGLLLFLVMFIYAIFGMSNFAYVKR----->E<VG-----IDDMFNFETFGNSMICLFQITTS1713
SCN3AIGLLLFLVMFIYAIFGMSNFAYVKK----->E<AG-----IDDMFNFETFGNSMICLFQITTS1708
SCN4AIGLLLFLVMFIYSIFGMSNFAYVKK----->E<SG-----IDDMFNFETFGNSIICLFEITTS1535
SCN7AIILLIFLVMFIYAVFGMYNFAYVKK----->E<AG-----INDVSNFETFGNSMLCLFQVAIF1433
SCN8AIGLLLFLVMFIFSIFGMSNFAYVKH----->E<AG-----IDDMFNFETFGNSMICLFQITTS1704
SCN9AIGLLLFLVMFIYAIFGMSNFAYVKK----->E<DG-----INDMFNFETFGNSMICLFQITTS1686
SCN10AIGLLLFLVMFIYSIFGMSSFPHVRW----->E<AG-----IDDMFNFQTFANSMLCLFQITTS1660
SCN11AIGLLLFLIMFIYAILGMNWFSKVNP----->E<SG-----IDDIFNFKTFASSMLCLFQISTS1550
CACNA1AVCLLIAMLFFIYAIIGMQVFGNIGIDVEDE>D<SDEDEFQITEHNNFRTFFQALMLLFRSATG1755
CACNA1BVCLLIAMLFFIYAIIGMQVFGNIALDD--->D<TS-----INRHNNFRTFLQALMLLFRSATG1655
CACNA1CVALLIVMLFFIYAVIGMQVFGKIALND--->T<TE-----INRNNNFQTFPQAVLLLFRCATG1415
CACNA1DVALLIAMLFFIYAVIGMQMFGKVAMRD--->N<NQ-----INRNNNFQTFPQAVLLLFRCATG1425
CACNA1EVCLLIAMLFFIYAIIGMQVFGNIKLDE--->E<SH-----INRHNNFRSFFGSLMLLFRSATG1662
CACNA1FVALLIAMIFFIYAVIGMQMFGKVALQD--->G<TQ-----INRNNNFQTFPQAVLLLFRCATG1382
CACNA1GLGLLFMLLFFIFAALGVELFGDLECDET-->-<HP--CEGLGRHATFRNFGMAFLTLFRVSTG1801
CACNA1HLGLLFMLLFFIYAALGVELFGRLECSED-->-<NP--CEGLSRHATFSNFGMAFLTLFRVSTG1807
CACNA1ILGLLFMLLFFIYAALGVELFGKLVCNDE-->-<NP--CEGMSRHATFENFGMAFLTLFQVSTG1677
CACNA1SVALLIVMLFFIYAVIGMQMFGKIALVD--->G<TQ-----INRNNNFQTFPQAVLLLFRCATG1322
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.E1685Vc.5054A>T Other Cardiac PhenotypeSIFT:
Polyphen:
ReportsOther Cardiac Phenotype Post-mortem genetic analysis in juvenile cases of sudden cardiac death. Forensic Sci Int. 2014 245C:30-37. doi: 10.1016/j.forsciint.2014.10.004. 25447171
p.E1685Dc.5055G>C Other Cardiac PhenotypeSIFT:
Polyphen:
ReportsOther Cardiac Phenotype Post-mortem genetic analysis in juvenile cases of sudden cardiac death. Forensic Sci Int. 2014 245C:30-37. doi: 10.1016/j.forsciint.2014.10.004. 25447171