Paralogue Annotation for RYR1 residue 1316

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1316
Reference Amino Acid: P - Proline
Protein Domain:

Paralogue Variants mapped to RYR1 residue 1316

No paralogue variants have been mapped to residue 1316 for RYR1.

RYR1	LFLRLSLPVQFHQHFRCTAGATPLAPPGLQ>P<PAEDEARAAEPDPDYENLRRSAGGWSEAEN	1346
RYR2	MFYRLSMPIECAEVFSKTV-AGGLPGAGLF>G<PK-NDLEDYDADSDFEVLMKTAHGHLVPDR	1358
RYR3	IYCRLSMPVECHSSFSH------------->-<------------------------------	1302
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.P1316T	c.3946C>A	Putative Benign		rs200894780	SIFT: Polyphen: benign