Paralogue Annotation for RYR1 residue 1994

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1994
Reference Amino Acid: R - Arginine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 1994

No paralogue variants have been mapped to residue 1994 for RYR1.

RYR1	RYVDKLQANQRSRYGLLIKAFSMTAAETAR>R<TREFRSPPQEQINMLLQFKDGTDEEDCPLP	2024
RYR2	DFVAKLQDNQRFRYNEVMQALNMSAALTAR>K<TKEFRSPPQEQINMLLNFKD--DKSECPCP	1989
RYR3	IYVSKLQANQKFRYNELMQALNMSAALTAR>K<TKEFRSPPQEQINMLLNFQL--GE-NCPCP	1889
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R1994C	c.5980C>T	Putative Benign		rs369167120	SIFT: deleterious Polyphen: possibly damaging
p.R1994H	c.5981G>A	Putative Benign			SIFT: deleterious Polyphen: benign