Paralogue Annotation for RYR1 residue 4062

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4062
Reference Amino Acid: D - Aspartate
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4062

No paralogue variants have been mapped to residue 4062 for RYR1.

RYR1	GNVVNGMIARQMVDMLVESSSNVEMILKFF>D<MFLKLKDIVGSEAFQDYVTDPRGLISKKDF	4092
RYR2	GNVVNGTIGKQMVDMLVESSNNVEMILKFF>D<MFLKLKDLTSSDTFKEYDPDGKGVISKRDF	4048
RYR3	GNVVNGTIGKQMVDTLVESSTNVEMILKFF>D<MFLKLKDLTSSDTFKEYDPDGKGIISKKEF	3944
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.D4062N	c.12184G>A	Putative Benign			SIFT: Polyphen: