Paralogue Annotation for RYR1 residue 3722

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3722
Reference Amino Acid: Y - Tyrosine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 3722

No paralogue variants have been mapped to residue 3722 for RYR1.

RYR1	EKKPDPLHQLVLHFSRTALTEKSKLDEDYL>Y<MAYADIMAKSCHLEEGGENGEAEEEVEVSF	3752
RYR2	TKRVDPLHQLILLFSRTALTEKCKLEEDFL>Y<MAYADIMAKSCHDEED-D--DGEEE-VKSF	3714
RYR3	EKQPDPLHQIILYFSRNALTERSKLEDDPL>Y<TSYSSMMAKSCQSGED-E--EEDEDKEKTF	3604
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.Y3722H	c.11164T>C	Other Myopathy			SIFT: Polyphen:
Reports		Other Myopathy		Expanding genotype/phenotype of neuromuscular diseases by comprehensive target capture/NGS. Neurol Genet. 2015 1(2):e14. doi: 10.1212/NXG.0000000000000015. eColl 27066551