Paralogue Annotation for RYR1 residue 1988

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1988
Reference Amino Acid: A - Alanine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 1988

No paralogue variants have been mapped to residue 1988 for RYR1.

RYR1	LAAFAERYVDKLQANQRSRYGLLIKAFSMT>A<AETARRTREFRSPPQEQINMLLQFKDGTDE	2018
RYR2	IVAFSDDFVAKLQDNQRFRYNEVMQALNMS>A<ALTARKTKEFRSPPQEQINMLLNFKD--DK	1983
RYR3	IVAFGDIYVSKLQANQKFRYNELMQALNMS>A<ALTARKTKEFRSPPQEQINMLLNFQL--GE	1884
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.A1988T	c.5962G>A	Putative Benign			SIFT: Polyphen: