Paralogue Annotation for RYR2 residue 2224

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2224
Reference Amino Acid: N - Asparagine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 2224

No paralogue variants have been mapped to residue 2224 for RYR2.

RYR2	ANCCRFLCYFCRISRQNQKAMFDHLSYLLE>N<SSVGLASPAMRGSTPLDVAAASVMDNNELA	2254
RYR1	TSCCRFLCYFCRISRQNQRSMFDHLSYLLE>N<SGIG--L-GMQGSTPLDVAAASVIDNNELA	2287
RYR3	ASCCRFLCYFCRISRQNQKAMFEHLSYLLE>N<SSVGLASPSMRGSTPLDVAASSVMDNNELA	2151
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.N2224T	c.6671A>C	Putative Benign			SIFT: Polyphen: