Paralogue Annotation for RYR2 residue 2039

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2039
Reference Amino Acid: L - Leucine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 2039

No paralogue variants have been mapped to residue 2039 for RYR2.

RYR2	ELDEDG-SLDGNSDLTIRGRLLSLVEKVTY>L<KKKQA--EKPVESDSKKSSTLQQLISETMV	2067
RYR1	QLDGEEEEP--EEETTLGSRLMSLLEKVRL>V<KKKEEKPEEERSAEESKPRSLQELVSHMVV	2103
RYR3	PLEEEE-EE--EEDTSWTGKLCALVYKIKG>P<PKPEK--EQPTEEEERCPTTLKELISQTMI	1965
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.L2039M	c.6115C>A	Putative Benign			SIFT: Polyphen: