Paralogue Annotation for SCN5A residue 998

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 998
Reference Amino Acid: Q - Glutamine
Protein Domain: Interdomain Linker II-III

Paralogue Variants mapped to SCN5A residue 998

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
CACNA1A	M798T	Episodic ataxia 2	Low	2	20129625

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	---------GLLRQ-RPQKPAALA-A---->Q<GQLPSCIATPYSPPP-PETEKVPPTRKETR	1027
SCN1A	---------QSFIR-KQKILDEIK-PLDDL>N<NKKDSCMSNHT--------AEIGKDLDYLK	1077
SCN2A	---------KAFVR-KQKALDEIK-PLEDL>N<NKKDSCISNHT-------TIEIGKDLNYLK	1069
SCN3A	---------KAFFR-KPKVI-EIH-E---->G<NKIDSCMSNNT-------GIEISKELNYLR	1065
SCN4A	---------GKILS-PKDIMLSLG-EADGA>G<EAGEAGETAPE-------DEKKEPPEEDLK	888
SCN7A	---------NVP-------KDTMD-HVNEV>Y<VKED--ISDHTL-------SELSNTQDFLK	806
SCN8A	---------AHFKQ-R--EADEVK-PLDEL>Y<EKKANCIANHT-------GADIHRNGDFQK	1061
SCN9A	---------KAFSK-KPKISREIR-QAEDL>N<TKKENYISNHT-------LAEMSKGHNFLK	1043
SCN10A	---------RSCPFPQPKAEPELVVKLPLS>S<SKAENHIAANT-------------------	966
SCN11A	---------KWCRK-Q-NLPQQ-------->K<EVAGGCAAQ---------SKDIIPLVMEMK	888
CACNA1A	M--RKQNLLASREA-L-------Y-NEMDP>D<ERWKAAYTR-HLRPDMKTHLDRPLVVDPQE	830
CACNA1B	L--RLQNLRASCEA-L-------Y-SEMDP>E<ERLRFATTR-HLRPDMKTHLDRPLVVELGR	824
CACNA1C	------------------------------>-<------------------------------
CACNA1D	------------------------------>-<------------------------------
CACNA1E	L--RKHMQMSSQEA-L-------N-REEAP>T<MNPLNPLNP-LSSL-------NPLNAHPSL	826
CACNA1F	------------------------------>-<------------------------------
CACNA1G	KCLALVSLGEHPEL-R-------K-SLLPP>L<IIHTAATPM-SLPKSTSTGLGEALGPASRR	1068
CACNA1H	MCSLAVTPNGHLEG-R-------G-SLSPP>L<IMCTAATPM-PTPKS-SPFLDAAPSLPDSR	1104
CACNA1I	LCPIPMTPNGHLDP-S-------L-PLGGH>L<GPAGAAGPA-P--RL-SLQPDPMLVALGSR	950
CACNA1S	------------------------------>-<------------------------------
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.Gln998Arg	c.2993A>G	Unknown			SIFT: Polyphen: