Paralogue Annotation for RYR1 residue 1015

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1015
Reference Amino Acid: R - Arginine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 1015

No paralogue variants have been mapped to residue 1015 for RYR1.

RYR1	DRLAENGHNVWARDRVGQGWSYSAVQDIPA>R<RNPRLVPYRLLDEATKRSNRDSLCQAVRTL	1045
RYR2	DKLAENAHNVWARDRIRQGWTYGIQQDVKN>R<RNPRLVPYTLLDDRTKKSNKDSLREAVRTL	1057
RYR3	DKLAENAHNVWAKDRIKQGWTYGIQQDLKN>K<RNPRLVPYALLDERTKKSNRDSLREAVRTF	1044
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R1015C	c.3043C>T	Putative Benign		rs139006437	SIFT: Polyphen: probably damaging