Paralogue Annotation for RYR1 residue 865

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 865
Reference Amino Acid: H - Histidine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 865

No paralogue variants have been mapped to residue 865 for RYR1.

RYR1	GPHLVGPSRCLSHTDFVPCPVDTVQIVLPP>H<LERIREKLAENIHELWALTRIEQGWTYGPV	895
RYR2	TRDLLGPTVSLTQAAFTPIPVDTSQIVLPP>H<LERIREKLAENIHELWVMNKIELGWQYGPV	907
RYR3	IRDLLGTTQFLSQASFIPCPVDTSQVILPP>H<LEKIRDRLAENIHELWGMNKIELGWTFGKI	894
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.H865L	c.2594A>T	Putative Benign		rs371862065	SIFT: deleterious Polyphen: probably damaging
p.H865Y	c.2593C>T	Putative Benign			SIFT: Polyphen: