Paralogue Annotation for RYR1 residue 3806

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3806
Reference Amino Acid: G - Glycine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 3806

No paralogue variants have been mapped to residue 3806 for RYR1.

RYR1	EMVLQMISACKGETGAMVSSTLKLGISILN>G<GNAEVQQKMLDYLKDKKEVGFFQSIQALMQ	3836
RYR2	EMVLQTISASKGETGPMVAATLKLGIAILN>G<GNSTVQQKMLDYLKEKKDVGFFQSLAGLMQ	3798
RYR3	EMVLQMISASKGEMSPMVVETLKLGIAILN>G<GNAGVQQKMLDYLKEKKDAGFFQSLSGLMQ	3688
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.G3806R	c.11416G>A	Other Myopathy		rs111565359	SIFT: Polyphen:
Reports		Other Myopathy		Increasing the number of diagnostic mutations in malignant hyperthermia. Hum Mutat. 2009 30(4):590-8. 19191329