Paralogue Annotation for RYR2 residue 1674

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1674
Reference Amino Acid: H - Histidine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1674

No paralogue variants have been mapped to residue 1674 for RYR2.

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

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.H1674R	c.5021A>G	Putative Benign			SIFT: Polyphen: