Paralogue Annotation for RYR1 residue 2076

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2076
Reference Amino Acid: K - Lysine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2076

No paralogue variants have been mapped to residue 2076 for RYR1.

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

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.K2076E	c.6226A>G	Putative Benign			SIFT: Polyphen: