Paralogue Annotation for RYR1 residue 1317

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1317
Reference Amino Acid: P - Proline
Protein Domain:

Paralogue Variants mapped to RYR1 residue 1317

No paralogue variants have been mapped to residue 1317 for RYR1.

RYR1	FLRLSLPVQFHQHFRCTAGATPLAPPGLQP>P<AEDEARAAEPDPDYENLRRSAGGWSEAENG	1347
RYR2	FYRLSMPIECAEVFSKTV-AGGLPGAGLFG>P<K-NDLEDYDADSDFEVLMKTAHGHLVPDRV	1359
RYR3	YCRLSMPVECHSSFSH-------------->-<------------------------------	1302
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.P1317L	c.3950C>T	Putative Benign			SIFT: Polyphen: