Paralogue Annotation for RYR1 residue 2258

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2258
Reference Amino Acid: L - Leucine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2258

No paralogue variants have been mapped to residue 2258 for RYR1.

RYR1	MVTSCCRFLCYFCRISRQNQRSMFDHLSYL>L<ENSGIG--L-GMQGSTPLDVAAASVIDNNE	2285
RYR2	MVANCCRFLCYFCRISRQNQKAMFDHLSYL>L<ENSSVGLASPAMRGSTPLDVAAASVMDNNE	2252
RYR3	MVASCCRFLCYFCRISRQNQKAMFEHLSYL>L<ENSSVGLASPSMRGSTPLDVAASSVMDNNE	2149
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.L2258P	c.6773T>C	Putative Benign			SIFT: deleterious Polyphen: possibly damaging