Paralogue Annotation for RYR2 residue 4125

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4125
Reference Amino Acid: V - Valine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 4125

No paralogue variants have been mapped to residue 4125 for RYR2.

RYR2	GFNVAVLLTNLSEHMPNDTRLQTFLELAES>V<LNYFQPFLGRIEIMGSAKRIERVYFEISES	4155
RYR1	GFNVAVLLTNLSEHVPHDPRLHNFLELAES>I<LEYFRPYLGRIEIMGASRRIERIYFEISET	4199
RYR3	GFNVAVLLTNLSEHMPNDSRLKCLLDPAES>V<LNYFEPYLGRIEIMGGAKKIERVYFEISES	4051
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V4125I	c.12373G>A	Putative Benign			SIFT: Polyphen:
p.Val4125Phe	c.12373G>T	Unknown			SIFT: Polyphen: