Paralogue Annotation for RYR2 residue 2230

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2230
Reference Amino Acid: A - Alanine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 2230

No paralogue variants have been mapped to residue 2230 for RYR2.

RYR2	LCYFCRISRQNQKAMFDHLSYLLENSSVGL>A<SPAMRGSTPLDVAAASVMDNNELALALREP	2260
RYR1	LCYFCRISRQNQRSMFDHLSYLLENSGIG->-<L-GMQGSTPLDVAAASVIDNNELALALQEQ	2293
RYR3	LCYFCRISRQNQKAMFEHLSYLLENSSVGL>A<SPSMRGSTPLDVAASSVMDNNELALSLEEP	2157
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.Ala2230Val	c.6689C>T	Unknown			SIFT: Polyphen: