Paralogue Annotation for RYR2 residue 2461

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2461
Reference Amino Acid: C - Cysteine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 2461

No paralogue variants have been mapped to residue 2461 for RYR2.

RYR2	DLVGVISIAFQMPTIAKDGNVVEPDMSAGF>C<PDHKAAMVLFLDRVYGIEVQDFLLHLLEVG	2491
RYR1	DLVGIISLPLQIPTLGKDGALVQPKMSASF>V<PDHKASMVLFLDRVYGIENQDFLLHVLDVG	2525
RYR3	DLVGIISIPLKLPSLNKDGSVSEPDMAANF>C<PDHKAPMVLFLDRVYGIKDQTFLLHLLEVG	2388
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.C2461F	c.7382G>T	Putative Benign		rs373193260	SIFT: deleterious Polyphen: probably damaging