Paralogue Annotation for RYR1 residue 1301

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1301
Reference Amino Acid: R - Arginine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 1301

No paralogue variants have been mapped to residue 1301 for RYR1.

RYR1	LTHRTWGSQNSLVEMLFLRLSLPVQFHQHF>R<CTAGATPLAPPGLQPPAEDEARAAEPDPDY	1331
RYR2	VTQKSFGSQNSNTDIMFYRLSMPIECAEVF>S<KTV-AGGLPGAGLFGPK-NDLEDYDADSDF	1343
RYR3	VTHKTFGTQNSNADMIYCRLSMPVECHSSF>S<H-----------------------------	1302
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R1301H	c.3902G>A	Putative Benign			SIFT: deleterious Polyphen: benign
p.R1301C	c.3901C>T	Putative Benign			SIFT: Polyphen: