Paralogue Annotation for SCN5A residue 1651

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1651
Reference Amino Acid: M - Methionine
Protein Domain: TM Domain 4


Paralogue Variants mapped to SCN5A residue 1651

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AM1664KDravet syndromeHigh9 18930999, 20522430, 25576396
SCN4AM1476IMyotoniaHigh9 17998485, 22250216
SCN9AM1627KParoxysmal extreme pain disorderHigh9 17145499, 18803825, 21115638
SCN4AM1476TParamyotonia congenitaHigh9 27060299
SCN8AM1645IPartial seizures with intellectual / developmentalHigh9 26544041

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.



SCN5ALFRVIRLARIGRILRLIRGAKGIRTLLFAL>M<MSLPALFNIGLLLFLVMFIYSIFGMANFAY1681
SCN1ALFRVIRLARIGRILRLIKGAKGIRTLLFAL>M<MSLPALFNIGLLLFLVMFIYAIFGMSNFAY1694
SCN2ALFRVIRLARIGRILRLIKGAKGIRTLLFAL>M<MSLPALFNIGLLLFLVMFIYAIFGMSNFAY1684
SCN3ALFRVIRLARIGRILRLIKGAKGIRTLLFAL>M<MSLPALFNIGLLLFLVMFIYAIFGMSNFAY1679
SCN4ALFRVIRLARIGRVLRLIRGAKGIRTLLFAL>M<MSLPALFNIGLLLFLVMFIYSIFGMSNFAY1506
SCN7ALVQLILLSRIIHMLRLGKGPKVFHNLMLPL>M<LSLPALLNIILLIFLVMFIYAVFGMYNFAY1404
SCN8ALFRVIRLARIGRILRLIKGAKGIRTLLFAL>M<MSLPALFNIGLLLFLVMFIFSIFGMSNFAY1675
SCN9ALFRVIRLARIGRILRLVKGAKGIRTLLFAL>M<MSLPALFNIGLLLFLVMFIYAIFGMSNFAY1657
SCN10ALFRVIRLARIGRILRLIRAAKGIRTLLFAL>M<MSLPALFNIGLLLFLVMFIYSIFGMSSFPH1631
SCN11ALFRIVRLARIGRILRLVRAARGIRTLLFAL>M<MSLPSLFNIGLLLFLIMFIYAILGMNWFSK1521
CACNA1AFLRLFRA---ARLIKLLRQGYTIRILLWTF>V<QSFKALPYVCLLIAMLFFIYAIIGMQVFGN1716
CACNA1BFLRLFRA---ARLIKLLRQGYTIRILLWTF>V<QSFKALPYVCLLIAMLFFIYAIIGMQVFGN1624
CACNA1CFFRLFRV---MRLVKLLSRGEGIRTLLWTF>I<KSFQALPYVALLIVMLFFIYAVIGMQVFGK1384
CACNA1DFFRLFRV---MRLVKLLSRGEGIRTLLWTF>I<KSFQALPYVALLIAMLFFIYAVIGMQMFGK1394
CACNA1EFLKLFRA---ARLIKLLRQGYTIRILLWTF>V<QSFKALPYVCLLIAMLFFIYAIIGMQVFGN1631
CACNA1FFFRLFRV---MRLVKLLSKGEGIRTLLWTF>I<KSFQALPYVALLIAMIFFIYAVIGMQMFGK1351
CACNA1GIIRIMRVLRIARVLKLLKMAVGMRALLDTV>M<QALPQVGNLGLLFMLLFFIFAALGVELFGD1767
CACNA1HIIRIMRVLRIARVLKLLKMATGMRALLDTV>V<QALPQVGNLGLLFMLLFFIYAALGVELFGR1773
CACNA1IIIRIMRVLRIARVLKLLKMATGMRALLDTV>V<QALPQVGNLGLLFMLLFFIYAALGVELFGK1643
CACNA1SFFRLFRV---MRLIKLLSRAEGVRTLLWTF>I<KSFQALPYVALLIVMLFFIYAVIGMQMFGK1291
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.Met1651Valc.4951A>G UnknownSIFT:
Polyphen: