Paralogue Annotation for RYR1 residue 2722

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2722
Reference Amino Acid: K - Lysine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2722

No paralogue variants have been mapped to residue 2722 for RYR1.

RYR1	DPELYRMAMPCLCAIAGALPPDYVDASYSS>K<AEKKATVDAEGNFDPRPVETLNVIIPEKLD	2752
RYR2	EQELFKLALPCLSAVAGALPPDYMESNYVS>M<MEKQSSMDSEGNFNPQPVDTSNITIPEKLE	2718
RYR3	DPDLFRMALPCLSAIAGALPPDYLDTRITA>T<LEKQISVDADGNFDPKPINTMNFSLPEKLE	2615
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.K2722M	c.8165A>T	Putative Benign			SIFT: Polyphen: