Paralogue Annotation for RYR1 residue 2767

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2767
Reference Amino Acid: A - Alanine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2767

No paralogue variants have been mapped to residue 2767 for RYR1.

RYR1	PRPVETLNVIIPEKLDSFINKFAEYTHEKW>A<FDKIQNNWSYGENIDEELKTHPMLRPYKTF	2797
RYR2	PQPVDTSNITIPEKLEYFINKYAEHSHDKW>S<MDKLANGWIYGEIYSDSSKVQPLMKPYKLL	2763
RYR3	PKPINTMNFSLPEKLEYIVTKYAEHSHDKW>A<CDKSQSGWKYGISLDENVKTHPLIRPFKTL	2660
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.A2767V	c.8300C>T	Putative Benign		rs368444112	SIFT: deleterious Polyphen: benign