Paralogue Annotation for RYR1 residue 4043

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4043
Reference Amino Acid: M - Methionine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4043

No paralogue variants have been mapped to residue 4043 for RYR1.

RYR1	KELLDLQKDMVVMLLSLLEGNVVNGMIARQ>M<VDMLVESSSNVEMILKFFDMFLKLKDIVGS	4073
RYR2	KELMDLQKDMVVMLLSMLEGNVVNGTIGKQ>M<VDMLVESSNNVEMILKFFDMFLKLKDLTSS	4029
RYR3	KELLDLLQDMVVMLLSLLEGNVVNGTIGKQ>M<VDTLVESSTNVEMILKFFDMFLKLKDLTSS	3925
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.M4043V	c.12127A>G	Putative Benign			SIFT: Polyphen: