Paralogue Annotation for RYR1 residue 1447

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1447
Reference Amino Acid: V - Valine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 1447

No paralogue variants have been mapped to residue 1447 for RYR1.

RYR1	ADNRDDPEIILNTTTYYYSVRVFAGQEPSC>V<WAGWVTPDYHQHDMSFDLSKVRVVTVTMGD	1477
RYR2	DDRDDYDFLMQT-STYYYSVRIFPGQEPAN>V<WVGWITSDFHQYDTGFDLDRVRTVTVTLGD	1471
RYR3	KRKQMQEILSHTTTQCYYAIRIFAGQDPSC>V<WVGWVTPDYHLYSEKFDLNKNCTVTVTLGD	1373
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V1447M	c.4339G>A	Putative Benign		rs370851779	SIFT: deleterious Polyphen: probably damaging