Paralogue Annotation for SCN5A residue 1625

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1625
Reference Amino Acid: I - Isoleucine
Protein Domain: TM Domain 4


Paralogue Variants mapped to SCN5A residue 1625

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AI1638TDravet syndrome C ?High6 21248271
SCN1AI1638NMyoclonic epilepsy of infancyHigh6 23195492

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.



SCN5A-------------------KYFFSPTLFRV>I<RLARIGRILRLIRGAKGIRTLLFALMMSLP1655
SCN1A-------------------KYFVSPTLFRV>I<RLARIGRILRLIKGAKGIRTLLFALMMSLP1668
SCN2A-------------------KYFVSPTLFRV>I<RLARIGRILRLIKGAKGIRTLLFALMMSLP1658
SCN3A-------------------KYFVSPTLFRV>I<RLARIGRILRLIKGAKGIRTLLFALMMSLP1653
SCN4A-------------------KYFVSPTLFRV>I<RLARIGRVLRLIRGAKGIRTLLFALMMSLP1480
SCN7A-------------------SYLVPPSLVQL>I<LLSRIIHMLRLGKGPKVFHNLMLPLMLSLP1378
SCN8A-------------------KYFVSPTLFRV>I<RLARIGRILRLIKGAKGIRTLLFALMMSLP1649
SCN9A-------------------TYFVSPTLFRV>I<RLARIGRILRLVKGAKGIRTLLFALMMSLP1631
SCN10A------------------LQSYFSPTLFRV>I<RLARIGRILRLIRAAKGIRTLLFALMMSLP1605
SCN11A------------------EHIPFPPTLFRI>V<RLARIGRILRLVRAARGIRTLLFALMMSLP1495
CACNA1A---------------------FINLSFLRL>F<RA---ARLIKLLRQGYTIRILLWTFVQSFK1690
CACNA1B-------------------NNFINLSFLRL>F<RA---ARLIKLLRQGYTIRILLWTFVQSFK1598
CACNA1C---HTQ----CSPSMNAEENSRISITFFRL>F<RV---MRLVKLLSRGEGIRTLLWTFIKSFQ1358
CACNA1D---SENVPVPTATPGNSEESNRISITFFRL>F<RV---MRLVKLLSRGEGIRTLLWTFIKSFQ1368
CACNA1E------------------NTSGFNMSFLKL>F<RA---ARLIKLLRQGYTIRILLWTFVQSFK1605
CACNA1F---HLG----E----SSEDSSRISITFFRL>F<RV---MRLVKLLSKGEGIRTLLWTFIKSFQ1325
CACNA1G------------------ASLPINPTIIRI>M<RVLRIARVLKLLKMAVGMRALLDTVMQALP1741
CACNA1H------------------AALPINPTIIRI>M<RVLRIARVLKLLKMATGMRALLDTVVQALP1747
CACNA1I------------------AALPINPTIIRI>M<RVLRIARVLKLLKMATGMRALLDTVVQALP1617
CACNA1SSSGGLYCLGGGCGNVDPDESARISSAFFRL>F<RV---MRLIKLLSRAEGVRTLLWTFIKSFQ1265
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 1625 for SCN5A.