Paralogue Annotation for RYR1 residue 2757

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2757
Reference Amino Acid: K - Lysine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2757

No paralogue variants have been mapped to residue 2757 for RYR1.

RYR1	ATVDAEGNFDPRPVETLNVIIPEKLDSFIN>K<FAEYTHEKWAFDKIQNNWSYGENIDEELKT	2787
RYR2	SSMDSEGNFNPQPVDTSNITIPEKLEYFIN>K<YAEHSHDKWSMDKLANGWIYGEIYSDSSKV	2753
RYR3	ISVDADGNFDPKPINTMNFSLPEKLEYIVT>K<YAEHSHDKWACDKSQSGWKYGISLDENVKT	2650
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.K2757T	c.8270A>C	Putative Benign			SIFT: Polyphen: