Paralogue Annotation for RYR2 residue 2639

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2639
Reference Amino Acid: H - Histidine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 2639

No paralogue variants have been mapped to residue 2639 for RYR2.

RYR2	LLTNHYERCWKYYCLPGGWGNFGAASEEEL>H<LSRKLFWGIFDALSQKKYEQELFKLALPCL	2669
RYR1	LLTNHYERCWKYYCLPTGWANFGVTSEEEL>H<LTRKLFWGIFDSLAHKKYDPELYRMAMPCL	2703
RYR3	LLTNHYEQCWKYYCLPSGWGSYGLAVEEEL>H<LTEKLFWGIFDSLSHKKYDPDLFRMALPCL	2566
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.H2639R	c.7916A>G	Putative Benign			SIFT: Polyphen: