Paralogue Annotation for RYR2 residue 2451

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2451
Reference Amino Acid: V - Valine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 2451

No paralogue variants have been mapped to residue 2451 for RYR2.

RYR2	SILRSLIPLGDLVGVISIAFQMPTIAKDGN>V<VEPDMSAGFCPDHKAAMVLFLDRVYGIEVQ	2481
RYR1	AILRSLVPLEDLVGIISLPLQIPTLGKDGA>L<VQPKMSASFVPDHKASMVLFLDRVYGIENQ	2515
RYR3	SILRSLVPTEDLVGIISIPLKLPSLNKDGS>V<SEPDMAANFCPDHKAPMVLFLDRVYGIKDQ	2378
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V2451M	c.7351G>A	Putative Benign		rs140798752	SIFT: tolerated Polyphen: probably damaging