Paralogue Annotation for RYR1 residue 1288

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1288
Reference Amino Acid: L - Leucine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 1288

No paralogue variants have been mapped to residue 1288 for RYR1.

RYR1	RVDGTVDTPPCLRLTHRTWGSQNSLVEMLF>L<RLSLPVQFHQHFRCTAGATPLAPPGLQPPA	1318
RYR2	RIDGTIDSSPCLKVTQKSFGSQNSNTDIMF>Y<RLSMPIECAEVFSKTV-AGGLPGAGLFGPK	1331
RYR3	RIDGTMDSPPCLKVTHKTFGTQNSNADMIY>C<RLSMPVECHSSFSH----------------	1302
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.L1288V	c.3862C>G	Putative Benign			SIFT: Polyphen: