Paralogue Annotation for RYR2 residue 1601

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1601
Reference Amino Acid: N - Asparagine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1601

No paralogue variants have been mapped to residue 1601 for RYR2.

RYR2	FKSEHKNPVPQCPPRLHVQFLSHVLWSRMP>N<QFLKVDVSRISERQGWLVQCLDPLQFMSLH	1631
RYR1	FQSERKNPAPQCPPRLEMQMLMPVSWSRMP>N<HFLQVETRRAGERLGWAVQCQEPLTMMALH	1639
RYR3	FRSEEKNPVPQCPPRLDVQTIQPVLWSRMP>N<SFLKVETERVSERHGWVVQCLEPLQMMALH	1535
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.N1601K	c.4803C>G	Putative Benign			SIFT: Polyphen: