Paralogue Annotation for RYR1 residue 2724

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2724
Reference Amino Acid: E - Glutamate
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2724

No paralogue variants have been mapped to residue 2724 for RYR1.

RYR1	ELYRMAMPCLCAIAGALPPDYVDASYSSKA>E<KKATVDAEGNFDPRPVETLNVIIPEKLDSF	2754
RYR2	ELFKLALPCLSAVAGALPPDYMESNYVSMM>E<KQSSMDSEGNFNPQPVDTSNITIPEKLEYF	2720
RYR3	DLFRMALPCLSAIAGALPPDYLDTRITATL>E<KQISVDADGNFDPKPINTMNFSLPEKLEYI	2617
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E2724K	c.8170G>A	Other Myopathy			SIFT: Polyphen:
Reports		Other Myopathy		Novel variants near the central domain of RYR1 in two malignant hyperthermia-susceptible families from Taiwan. Anesth Analg. 2009 109(4):1273-7. 19762757