Paralogue Annotation for RYR1 residue 1999

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1999
Reference Amino Acid: R - Arginine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 1999

No paralogue variants have been mapped to residue 1999 for RYR1.

RYR1	LQANQRSRYGLLIKAFSMTAAETARRTREF>R<SPPQEQINMLLQFKDGTDEEDCPLPEEIRQ	2029
RYR2	LQDNQRFRYNEVMQALNMSAALTARKTKEF>R<SPPQEQINMLLNFKD--DKSECPCPEEIRD	1994
RYR3	LQANQKFRYNELMQALNMSAALTARKTKEF>R<SPPQEQINMLLNFQL--GE-NCPCPEEIRE	1894
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R1999C	c.5995C>T	Putative Benign			SIFT: Polyphen: