Paralogue Annotation for SCN5A residue 1681

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1681
Reference Amino Acid: Y - Tyrosine
Protein Domain: TM Domain 4


Paralogue Variants mapped to SCN5A residue 1681

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AY1694CMyoclonic epilepsy of infancyHigh9 14738421

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.



SCN5AMMSLPALFNIGLLLFLVMFIYSIFGMANFA>Y<VKW-----EAG-----IDDMFNFQTFANSM1701
SCN1AMMSLPALFNIGLLLFLVMFIYAIFGMSNFA>Y<VKR-----EVG-----IDDMFNFETFGNSM1714
SCN2AMMSLPALFNIGLLLFLVMFIYAIFGMSNFA>Y<VKR-----EVG-----IDDMFNFETFGNSM1704
SCN3AMMSLPALFNIGLLLFLVMFIYAIFGMSNFA>Y<VKK-----EAG-----IDDMFNFETFGNSM1699
SCN4AMMSLPALFNIGLLLFLVMFIYSIFGMSNFA>Y<VKK-----ESG-----IDDMFNFETFGNSI1526
SCN7AMLSLPALLNIILLIFLVMFIYAVFGMYNFA>Y<VKK-----EAG-----INDVSNFETFGNSM1424
SCN8AMMSLPALFNIGLLLFLVMFIFSIFGMSNFA>Y<VKH-----EAG-----IDDMFNFETFGNSM1695
SCN9AMMSLPALFNIGLLLFLVMFIYAIFGMSNFA>Y<VKK-----EDG-----INDMFNFETFGNSM1677
SCN10AMMSLPALFNIGLLLFLVMFIYSIFGMSSFP>H<VRW-----EAG-----IDDMFNFQTFANSM1651
SCN11AMMSLPSLFNIGLLLFLIMFIYAILGMNWFS>K<VNP-----ESG-----IDDIFNFKTFASSM1541
CACNA1AVQSFKALPYVCLLIAMLFFIYAIIGMQVFG>N<IGIDVEDEDSDEDEFQITEHNNFRTFFQAL1746
CACNA1BVQSFKALPYVCLLIAMLFFIYAIIGMQVFG>N<IALDD---DTS-----INRHNNFRTFLQAL1646
CACNA1CIKSFQALPYVALLIVMLFFIYAVIGMQVFG>K<IALND---TTE-----INRNNNFQTFPQAV1406
CACNA1DIKSFQALPYVALLIAMLFFIYAVIGMQMFG>K<VAMRD---NNQ-----INRNNNFQTFPQAV1416
CACNA1EVQSFKALPYVCLLIAMLFFIYAIIGMQVFG>N<IKLDE---ESH-----INRHNNFRSFFGSL1653
CACNA1FIKSFQALPYVALLIAMIFFIYAVIGMQMFG>K<VALQD---GTQ-----INRNNNFQTFPQAV1373
CACNA1GMQALPQVGNLGLLFMLLFFIFAALGVELFG>D<LECDET---HP--CEGLGRHATFRNFGMAF1792
CACNA1HVQALPQVGNLGLLFMLLFFIYAALGVELFG>R<LECSED---NP--CEGLSRHATFSNFGMAF1798
CACNA1IVQALPQVGNLGLLFMLLFFIYAALGVELFG>K<LVCNDE---NP--CEGMSRHATFENFGMAF1668
CACNA1SIKSFQALPYVALLIVMLFFIYAVIGMQMFG>K<IALVD---GTQ-----INRNNNFQTFPQAV1313
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.Y1681Fc.5042A>T Putative BenignSIFT:
Polyphen: