Paralogue Annotation for RYR1 residue 4010

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4010
Reference Amino Acid: E - Glutamate
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4010

No paralogue variants have been mapped to residue 4010 for RYR1.

RYR1	AHSRLWDAVVGFLHVFAHMMMKLAQDSSQI>E<LLKELLDLQKDMVVMLLSLLEGNVVNGMIA	4040
RYR2	AHSRLWDAVVGFLHVFAHMQMKLSQDSSQI>E<LLKELMDLQKDMVVMLLSMLEGNVVNGTIG	3996
RYR3	AHSRLWDAVVGFLHVFANMQMKLSQDSSQI>E<LLKELLDLLQDMVVMLLSLLEGNVVNGTIG	3892
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E4010K	c.12028G>A	Other Myopathy			SIFT: Polyphen:
Reports		Other Myopathy		Next-generation Sequencing of RYR1 and CACNA1S in Malignant Hyperthermia and Exertional Heat Illness. Anesthesiology. 2015 122(5):1033-46. doi: 10.1097/ALN.0000000000000610. 25658027