Paralogue Annotation for RYR1 residue 3530

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3530
Reference Amino Acid: Q - Glutamine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 3530

No paralogue variants have been mapped to residue 3530 for RYR1.

RYR1	GDRYSVQTSLIVATLKKMLPIGLNMCAPTD>Q<DLITLAKTRYALKDTDEEVREFLHNNLHLQ	3560
RYR2	GDRYSMQTSLIVAALKRLLPIGLNICAPGD>Q<ELIALAKNRFSLKDTEDEVRDIIRSNIHLQ	3516
RYR3	GDLYSIQTSLIVAALKKMLPIGLNMCTPGD>Q<ELISLAKSRYSHRDTDEEVREHLRNNLHLQ	3417
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.Q3530H	c.10590A>C	Putative Benign			SIFT: Polyphen: