Paralogue Annotation for RYR1 residue 1276

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1276
Reference Amino Acid: W - Tryptophan
Protein Domain:

Paralogue Variants mapped to RYR1 residue 1276

No paralogue variants have been mapped to residue 1276 for RYR1.

RYR1	PVPLEHPHYEVSRVDGTVDTPPCLRLTHRT>W<GSQNSLVEMLFLRLSLPVQFHQHFRCTAGA	1306
RYR2	QVPSNHEHIEVTRIDGTIDSSPCLKVTQKS>F<GSQNSNTDIMFYRLSMPIECAEVFSKTV-A	1319
RYR3	NVPKDHPHIEVMRIDGTMDSPPCLKVTHKT>F<GTQNSNADMIYCRLSMPVECHSSFSH----	1302
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.W1276R	c.3826T>A	Putative Benign			SIFT: Polyphen: