Paralogue Annotation for RYR1 residue 3890

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3890
Reference Amino Acid: L - Leucine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 3890

No paralogue variants have been mapped to residue 3890 for RYR1.

RYR1	EDGTVINRQNGEKVMADDEFTQDLFRFLQL>L<CEGHNNDFQNYLRTQTGNTTTINIIICTVD	3920
RYR2	EEGS------GEKVLQDDEFTCDLFRFLQL>L<CEGHNSDFQNYLRTQTGNNTTVNIIISTVD	3876
RYR3	EEGTLIVRERGEKVLQNDEFTRDLFRFLQL>L<CEGHNSDFQNFLRTQMGNTTTVNVIISTVD	3772
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.L3890I	c.11668C>A	Putative Benign			SIFT: Polyphen: