Paralogue Annotation for RYR1 residue 4038

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4038
Reference Amino Acid: M - Methionine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4038

No paralogue variants have been mapped to residue 4038 for RYR1.

RYR1	QIELLKELLDLQKDMVVMLLSLLEGNVVNG>M<IARQMVDMLVESSSNVEMILKFFDMFLKLK	4068
RYR2	QIELLKELMDLQKDMVVMLLSMLEGNVVNG>T<IGKQMVDMLVESSNNVEMILKFFDMFLKLK	4024
RYR3	QIELLKELLDLLQDMVVMLLSLLEGNVVNG>T<IGKQMVDTLVESSTNVEMILKFFDMFLKLK	3920
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.M4038L	c.12112A>C	Putative Benign			SIFT: Polyphen: