Paralogue Annotation for RYR1 residue 4048

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4048
Reference Amino Acid: V - Valine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4048

No paralogue variants have been mapped to residue 4048 for RYR1.

RYR1	LQKDMVVMLLSLLEGNVVNGMIARQMVDML>V<ESSSNVEMILKFFDMFLKLKDIVGSEAFQD	4078
RYR2	LQKDMVVMLLSMLEGNVVNGTIGKQMVDML>V<ESSNNVEMILKFFDMFLKLKDLTSSDTFKE	4034
RYR3	LLQDMVVMLLSLLEGNVVNGTIGKQMVDTL>V<ESSTNVEMILKFFDMFLKLKDLTSSDTFKE	3930
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V4048L	c.12142G>C	Putative Benign		rs368835421	SIFT: deleterious Polyphen: benign
p.V4048L	c.12142G>T	Putative Benign			SIFT: Polyphen: