Paralogue Annotation for RYR1 residue 1265

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1265
Reference Amino Acid: T - Threonine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 1265

No paralogue variants have been mapped to residue 1265 for RYR1.

RYR1	TWFSKGLPQFEPVPLEHPHYEVSRVDGTVD>T<PPCLRLTHRTWGSQNSLVEMLFLRLSLPVQ	1295
RYR2	MWLSKRLPQFLQVPSNHEHIEVTRIDGTID>S<SPCLKVTQKSFGSQNSNTDIMFYRLSMPIE	1309
RYR3	MWFSKRLPTFVNVPKDHPHIEVMRIDGTMD>S<PPCLKVTHKTFGTQNSNADMIYCRLSMPVE	1295
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.T1265M	c.3794C>T	Putative Benign			SIFT: Polyphen: possibly damaging