Paralogue Annotation for RYR1 residue 3511

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3511
Reference Amino Acid: V - Valine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 3511

No paralogue variants have been mapped to residue 3511 for RYR1.

RYR1	AGDIQSGGSDQERTKKKRRGDRYSVQTSLI>V<ATLKKMLPIGLNMCAPTDQDLITLAKTRYA	3541
RYR2	AA-----VSDQERKKMKRKGDRYSMQTSLI>V<AALKRLLPIGLNICAPGDQELIALAKNRFS	3497
RYR3	AMQVKSGGQDQERKKTKRRGDLYSIQTSLI>V<AALKKMLPIGLNMCTPGDQELISLAKSRYS	3398
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V3511M	c.10531G>A	Putative Benign		rs376389988	SIFT: deleterious Polyphen: benign
p.V3511L	c.10531G>T	Putative Benign			SIFT: Polyphen: