Paralogue Annotation for RYR1 residue 1323

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1323
Reference Amino Acid: R - Arginine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 1323

No paralogue variants have been mapped to residue 1323 for RYR1.

RYR1	PVQFHQHFRCTAGATPLAPPGLQPPAEDEA>R<AAEPDPDYENLRRSAGGWSEAENGKEGTAK	1353
RYR2	PIECAEVFSKTV-AGGLPGAGLFGPK-NDL>E<DYDADSDFEVLMKTAHGHLVPDRVDKDKEA	1365
RYR3	PVECHSSFSH-------------------->-<------------------------------	1302
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R1323P	c.3968G>C	Putative Benign			SIFT: Polyphen: