Paralogue Annotation for RYR1 residue 3550

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3550
Reference Amino Acid: R - Arginine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 3550

No paralogue variants have been mapped to residue 3550 for RYR1.

RYR1	IGLNMCAPTDQDLITLAKTRYALKDTDEEV>R<EFLHNNLHLQGKVEGSPSLRWQMALYRGVP	3580
RYR2	IGLNICAPGDQELIALAKNRFSLKDTEDEV>R<DIIRSNIHLQGKLE-DPAIRWQMALYKDLP	3535
RYR3	IGLNMCTPGDQELISLAKSRYSHRDTDEEV>R<EHLRNNLHLQEKSD-DPAVKWQLNLYKDVL	3436
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R3550W	c.10648C>T	Putative Benign			SIFT: deleterious Polyphen: benign
p.R3550Q	c.10649G>A	Putative Benign			SIFT: tolerated Polyphen: benign