Paralogue Annotation for SCN5A residue 988

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 988
Reference Amino Acid: R - Arginine
Protein Domain: Interdomain Linker II-III

Paralogue Variants mapped to SCN5A residue 988

No paralogue variants have been mapped to residue 988 for SCN5A.

SCN5A	-----RTTWDFCC-----------GLLRQ->R<PQKPAALA-A----QGQLPSCIATPYSPPP	1013
SCN1A	-----RKIYEFIQ-----------QSFIR->K<QKILDEIK-PLDDLNNKKDSCMSNHT----	1066
SCN2A	-----RKIREFIQ-----------KAFVR->K<QKALDEIK-PLEDLNNKKDSCISNHT----	1057
SCN3A	-----NKMRECFQ-----------KAFFR->K<PKVI-EIH-E----GNKIDSCMSNNT----	1053
SCN4A	-----AFLLGLLH-----------GKILS->P<KDIMLSLG-EADGAGEAGEAGETAPE----	876
SCN7A	-----LKILCKTQ-----------NVP--->-<---KDTMD-HVNEVYVKED--ISDHTL---	795
SCN8A	-----LKVHAFMQ-----------AHFKQ->R<--EADEVK-PLDELYEKKANCIANHT----	1049
SCN9A	-----QTLREFIL-----------KAFSK->K<PKISREIR-QAEDLNTKKENYISNHT----	1031
SCN10A	--RTKQALCSFFS-----------RSCPFP>Q<PKAEPELVVKLPLSSSKAENHIAANT----	966
SCN11A	-----HTLEHFCH-----------KWCRK->Q<-NLPQQ--------KEVAGGCAAQ------	876
CACNA1A	NQKPAKSVWEQRTSEM--RKQNLLASREA->L<-------Y-NEMDPDERWKAAYTR-HLRPD	815
CACNA1B	NSAKARSVWEQRASQL--RLQNLRASCEA->L<-------Y-SEMDPEERLRFATTR-HLRPD	809
CACNA1C	P----------------------------->-<------------------------------	784
CACNA1D	L----------------------------->-<------------------------------	803
CACNA1E	RRRHHMSVWEQRTSQL--RKHMQMSSQEA->L<-------N-REEAPTMNPLNPLNP-LSSL-	817
CACNA1F	L----------------------------->-<------------------------------	789
CACNA1G	PDFFSPSLDGDGDRKKCLALVSLGEHPEL->R<-------K-SLLPPLIIHTAATPM-SLPKS	1053
CACNA1H	------RELQTTELKMCSLAVTPNGHLEG->R<-------G-SLSPPLIMCTAATPM-PTPKS	1090
CACNA1I	------GLDSSGDPKLCPIPMTPNGHLDP->S<-------L-PLGGHLGPAGAAGPA-P--RL	936
CACNA1S	E----------------------------->-<------------------------------	695
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R988W	c.2962C>T	Inherited Arrhythmia	BrS		SIFT: Polyphen:
Reports		Inherited Arrhythmia	BrS	Genetics can contribute to the prognosis of Brugada syndrome: a pilot model for risk stratification. Eur J Hum Genet. 2013 21(9):911-7. doi: 10.1038/ejhg.2012.289. 23321620
p.R988Q	c.2963G>A	Putative Benign			SIFT: Polyphen: