Paralogue Annotation for RYR2 residue 348

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 348
Reference Amino Acid: G - Glycine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 348

No paralogue variants have been mapped to residue 348 for RYR2.

RYR2	KADVKSTAFTFRS---SKEKLDVGVRKEVD>G<MGTSEIKYGDSVCYIQHVDTGLWLTYQSVD	378
RYR1	KAHTKATSFCFRI---SKEKLDVAPKRDVE>G<MGPPEIKYGESLCFVQHVASGLWLTYAAPD	362
RYR3	KSDTKSTAFSFRASKELKEKLDSSHKRDIE>G<MGVPEIKYGDSVCFVQHIASGLWVTYKAQD	370
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.G348D	c.1043G>A	Putative Benign			SIFT: Polyphen: