Paralogue Annotation for RYR1 residue 1448

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1448
Reference Amino Acid: W - Tryptophan
Protein Domain:

Paralogue Variants mapped to RYR1 residue 1448

No paralogue variants have been mapped to residue 1448 for RYR1.

RYR1	DNRDDPEIILNTTTYYYSVRVFAGQEPSCV>W<AGWVTPDYHQHDMSFDLSKVRVVTVTMGDE	1478
RYR2	DRDDYDFLMQT-STYYYSVRIFPGQEPANV>W<VGWITSDFHQYDTGFDLDRVRTVTVTLGDE	1472
RYR3	RKQMQEILSHTTTQCYYAIRIFAGQDPSCV>W<VGWVTPDYHLYSEKFDLNKNCTVTVTLGDE	1374
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.W1448C	c.4344G>T	Putative Benign		rs375675447	SIFT: deleterious Polyphen: probably damaging
p.Trp1448Arg	c.4342T>C	Unknown			SIFT: Polyphen: