Paralogue Annotation for SCN5A residue 1638

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1638
Reference Amino Acid: R - Arginine
Protein Domain: TM Domain 4

Paralogue Variants mapped to SCN5A residue 1638

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN2A	K1641N	Seizures, benign infantile	Medium	9	23360469
SCN10A	R1588Q	Atrial fibrillation	High	9	25691686, 25691686

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	------KYFFSPTLFRVIRLARIGRILRLI>R<GAKGIRTLLFALMMSLPALFNIGLLLFLVM	1668
SCN1A	------KYFVSPTLFRVIRLARIGRILRLI>K<GAKGIRTLLFALMMSLPALFNIGLLLFLVM	1681
SCN2A	------KYFVSPTLFRVIRLARIGRILRLI>K<GAKGIRTLLFALMMSLPALFNIGLLLFLVM	1671
SCN3A	------KYFVSPTLFRVIRLARIGRILRLI>K<GAKGIRTLLFALMMSLPALFNIGLLLFLVM	1666
SCN4A	------KYFVSPTLFRVIRLARIGRVLRLI>R<GAKGIRTLLFALMMSLPALFNIGLLLFLVM	1493
SCN7A	------SYLVPPSLVQLILLSRIIHMLRLG>K<GPKVFHNLMLPLMLSLPALLNIILLIFLVM	1391
SCN8A	------KYFVSPTLFRVIRLARIGRILRLI>K<GAKGIRTLLFALMMSLPALFNIGLLLFLVM	1662
SCN9A	------TYFVSPTLFRVIRLARIGRILRLV>K<GAKGIRTLLFALMMSLPALFNIGLLLFLVM	1644
SCN10A	-----LQSYFSPTLFRVIRLARIGRILRLI>R<AAKGIRTLLFALMMSLPALFNIGLLLFLVM	1618
SCN11A	-----EHIPFPPTLFRIVRLARIGRILRLV>R<AARGIRTLLFALMMSLPSLFNIGLLLFLIM	1508
CACNA1A	--------FINLSFLRLFRA---ARLIKLL>R<QGYTIRILLWTFVQSFKALPYVCLLIAMLF	1703
CACNA1B	------NNFINLSFLRLFRA---ARLIKLL>R<QGYTIRILLWTFVQSFKALPYVCLLIAMLF	1611
CACNA1C	SMNAEENSRISITFFRLFRV---MRLVKLL>S<RGEGIRTLLWTFIKSFQALPYVALLIVMLF	1371
CACNA1D	PGNSEESNRISITFFRLFRV---MRLVKLL>S<RGEGIRTLLWTFIKSFQALPYVALLIAMLF	1381
CACNA1E	-----NTSGFNMSFLKLFRA---ARLIKLL>R<QGYTIRILLWTFVQSFKALPYVCLLIAMLF	1618
CACNA1F	--SSEDSSRISITFFRLFRV---MRLVKLL>S<KGEGIRTLLWTFIKSFQALPYVALLIAMIF	1338
CACNA1G	-----ASLPINPTIIRIMRVLRIARVLKLL>K<MAVGMRALLDTVMQALPQVGNLGLLFMLLF	1754
CACNA1H	-----AALPINPTIIRIMRVLRIARVLKLL>K<MATGMRALLDTVVQALPQVGNLGLLFMLLF	1760
CACNA1I	-----AALPINPTIIRIMRVLRIARVLKLL>K<MATGMRALLDTVVQALPQVGNLGLLFMLLF	1630
CACNA1S	NVDPDESARISSAFFRLFRV---MRLIKLL>S<RAEGVRTLLWTFIKSFQALPYVALLIVMLF	1278
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R1638Q	c.4913G>A	Putative Benign		rs374557801	SIFT: deleterious Polyphen: probably damaging