Paralogue Annotation for RYR1 residue 3895

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3895
Reference Amino Acid: N - Asparagine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 3895

No paralogue variants have been mapped to residue 3895 for RYR1.

RYR1	INRQNGEKVMADDEFTQDLFRFLQLLCEGH>N<NDFQNYLRTQTGNTTTINIIICTVDYLLRL	3925
RYR2	-----GEKVLQDDEFTCDLFRFLQLLCEGH>N<SDFQNYLRTQTGNNTTVNIIISTVDYLLRV	3881
RYR3	IVRERGEKVLQNDEFTRDLFRFLQLLCEGH>N<SDFQNFLRTQMGNTTTVNVIISTVDYLLRL	3777
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.N3895D	c.11683A>G	Putative Benign			SIFT: deleterious Polyphen: benign