Paralogue Annotation for RYR2 residue 1946

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1946
Reference Amino Acid: E - Glutamate
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1946

No paralogue variants have been mapped to residue 1946 for RYR2.

RYR2	CQVRHRIEAIVAFSDDFVAKLQDNQRFRYN>E<VMQALNMSAALTARKTKEFRSPPQEQINML	1976
RYR1	QELQHRVESLAAFAERYVDKLQANQRSRYG>L<LIKAFSMTAAETARRTREFRSPPQEQINML	2009
RYR3	CELQHRVEAIVAFGDIYVSKLQANQKFRYN>E<LMQALNMSAALTARKTKEFRSPPQEQINML	1877
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E1946K	c.5836G>A	Putative Benign		rs267598436	SIFT: tolerated Polyphen: possibly damaging