Paralogue Annotation for RYR1 residue 1983

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1983
Reference Amino Acid: A - Alanine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 1983

No paralogue variants have been mapped to residue 1983 for RYR1.

RYR1	HRVESLAAFAERYVDKLQANQRSRYGLLIK>A<FSMTAAETARRTREFRSPPQEQINMLLQFK	2013
RYR2	HRIEAIVAFSDDFVAKLQDNQRFRYNEVMQ>A<LNMSAALTARKTKEFRSPPQEQINMLLNFK	1980
RYR3	HRVEAIVAFGDIYVSKLQANQKFRYNELMQ>A<LNMSAALTARKTKEFRSPPQEQINMLLNFQ	1881
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.A1983V	c.5948C>T	Putative Benign			SIFT: Polyphen: