Paralogue Annotation for RYR1 residue 4200

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4200
Reference Amino Acid: N - Asparagine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4200

No paralogue variants have been mapped to residue 4200 for RYR1.

RYR1	LEYFRPYLGRIEIMGASRRIERIYFEISET>N<RAQWEMPQVKESKRQFIFDVVNEGGEAEKM	4230
RYR2	LNYFQPFLGRIEIMGSAKRIERVYFEISES>S<RTQWEKPQVKESKRQFIFDVVNEGGEKEKM	4186
RYR3	LNYFEPYLGRIEIMGGAKKIERVYFEISES>S<RTQWEKPQVKESKRQFIFDVVNEGGEQEKM	4082
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.N4200I	c.12599A>T	Putative Benign		rs199660276	SIFT: Polyphen: benign