Paralogue Annotation for SCN5A residue 1679

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1679
Reference Amino Acid: F - Phenylalanine
Protein Domain: TM Domain 4


Paralogue Variants mapped to SCN5A residue 1679

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AF1692SMyoclonic 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.



SCN5AALMMSLPALFNIGLLLFLVMFIYSIFGMAN>F<AYVKW-----EAG-----IDDMFNFQTFAN1699
SCN1AALMMSLPALFNIGLLLFLVMFIYAIFGMSN>F<AYVKR-----EVG-----IDDMFNFETFGN1712
SCN2AALMMSLPALFNIGLLLFLVMFIYAIFGMSN>F<AYVKR-----EVG-----IDDMFNFETFGN1702
SCN3AALMMSLPALFNIGLLLFLVMFIYAIFGMSN>F<AYVKK-----EAG-----IDDMFNFETFGN1697
SCN4AALMMSLPALFNIGLLLFLVMFIYSIFGMSN>F<AYVKK-----ESG-----IDDMFNFETFGN1524
SCN7APLMLSLPALLNIILLIFLVMFIYAVFGMYN>F<AYVKK-----EAG-----INDVSNFETFGN1422
SCN8AALMMSLPALFNIGLLLFLVMFIFSIFGMSN>F<AYVKH-----EAG-----IDDMFNFETFGN1693
SCN9AALMMSLPALFNIGLLLFLVMFIYAIFGMSN>F<AYVKK-----EDG-----INDMFNFETFGN1675
SCN10AALMMSLPALFNIGLLLFLVMFIYSIFGMSS>F<PHVRW-----EAG-----IDDMFNFQTFAN1649
SCN11AALMMSLPSLFNIGLLLFLIMFIYAILGMNW>F<SKVNP-----ESG-----IDDIFNFKTFAS1539
CACNA1ATFVQSFKALPYVCLLIAMLFFIYAIIGMQV>F<GNIGIDVEDEDSDEDEFQITEHNNFRTFFQ1744
CACNA1BTFVQSFKALPYVCLLIAMLFFIYAIIGMQV>F<GNIALDD---DTS-----INRHNNFRTFLQ1644
CACNA1CTFIKSFQALPYVALLIVMLFFIYAVIGMQV>F<GKIALND---TTE-----INRNNNFQTFPQ1404
CACNA1DTFIKSFQALPYVALLIAMLFFIYAVIGMQM>F<GKVAMRD---NNQ-----INRNNNFQTFPQ1414
CACNA1ETFVQSFKALPYVCLLIAMLFFIYAIIGMQV>F<GNIKLDE---ESH-----INRHNNFRSFFG1651
CACNA1FTFIKSFQALPYVALLIAMIFFIYAVIGMQM>F<GKVALQD---GTQ-----INRNNNFQTFPQ1371
CACNA1GTVMQALPQVGNLGLLFMLLFFIFAALGVEL>F<GDLECDET---HP--CEGLGRHATFRNFGM1790
CACNA1HTVVQALPQVGNLGLLFMLLFFIYAALGVEL>F<GRLECSED---NP--CEGLSRHATFSNFGM1796
CACNA1ITVVQALPQVGNLGLLFMLLFFIYAALGVEL>F<GKLVCNDE---NP--CEGMSRHATFENFGM1666
CACNA1STFIKSFQALPYVALLIVMLFFIYAVIGMQM>F<GKIALVD---GTQ-----INRNNNFQTFPQ1311
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 1679 for SCN5A.