Paralogue Annotation for RYR1 residue 1682

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1682
Reference Amino Acid: H - Histidine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 1682

No paralogue variants have been mapped to residue 1682 for RYR1.

RYR1	LSERLDLQRFHSHTLRLYRAVCALGNNRVA>H<ALCSHVDQAQLLHALEDAHLPGPLRAGYYD	1712
RYR2	LTEQEELLKFHYHTLRLYSAVCALGNHRVA>H<ALCSHVDEPQLLYAIENKYMPGLLRAGYYD	1704
RYR3	LCEQEDLMRFHYHTLRLYSAVCALGNSRVA>Y<ALCSHVDLSQLFYAIDNKYLPGLLRSGFYD	1608
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.H1682Y	c.5044C>T	Putative Benign			SIFT: Polyphen: