Paralogue Annotation for RYR2 residue 2042

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2042
Reference Amino Acid: K - Lysine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 2042

No paralogue variants have been mapped to residue 2042 for RYR2.

RYR2	EDG-SLDGNSDLTIRGRLLSLVEKVTYLKK>K<QA--EKPVESDSKKSSTLQQLISETMVRWA	2070
RYR1	GEEEEP--EEETTLGSRLMSLLEKVRLVKK>K<EEKPEEERSAEESKPRSLQELVSHMVVRWA	2106
RYR3	EEE-EE--EEDTSWTGKLCALVYKIKGPPK>P<EK--EQPTEEEERCPTTLKELISQTMICWA	1968
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.K2042Q	c.6124A>C	Putative Benign			SIFT: Polyphen: