Paralogue Annotation for RYR1 residue 2070

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2070
Reference Amino Acid: V - Valine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2070

No paralogue variants have been mapped to residue 2070 for RYR1.

RYR1	CGIQLDGEEEEP--EEETTLGSRLMSLLEK>V<RLVKKKEEKPEEERSAEESKPRSLQELVSH	2100
RYR2	CGIELDEDG-SLDGNSDLTIRGRLLSLVEK>V<TYLKKKQA--EKPVESDSKKSSTLQQLISE	2064
RYR3	CGVPLEEEE-EE--EEDTSWTGKLCALVYK>I<KGPPKPEK--EQPTEEEERCPTTLKELISQ	1962
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V2070M	c.6208G>A	Putative Benign			SIFT: Polyphen:
p.V2070E	c.6209T>A	Putative Benign			SIFT: Polyphen: