Paralogue Annotation for RYR1 residue 1420

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1420
Reference Amino Acid: R - Arginine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 1420

No paralogue variants have been mapped to residue 1420 for RYR1.

RYR1	FKAKKVAMMTQPPATPTLPRLPHDVVPADN>R<DDPEIILNTTTYYYSVRVFAGQEPSCVWAG	1450
RYR2	KQRFLLRRTKPDYSTSHSARLTEDVLADDR>D<DYDFLMQT-STYYYSVRIFPGQEPANVWVG	1444
RYR3	-----------------SPCLDSEAFQKRK>Q<MQEILSHTTTQCYYAIRIFAGQDPSCVWVG	1346
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R1420H	c.4259G>A	Putative Benign		rs150499158	SIFT: Polyphen: probably damaging
p.R1420C	c.4258C>T	Putative Benign			SIFT: Polyphen: