Paralogue Annotation for RYR1 residue 1414

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1414
Reference Amino Acid: V - Valine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 1414

No paralogue variants have been mapped to residue 1414 for RYR1.

RYR1	KKRGFLFKAKKVAMMTQPPATPTLPRLPHD>V<VPADNRDDPEIILNTTTYYYSVRVFAGQEP	1444
RYR2	-SR--LKQRFLLRRTKPDYSTSHSARLTED>V<LADDRDDYDFLMQT-STYYYSVRIFPGQEP	1438
RYR3	-----------------------SPCLDSE>A<FQKRKQMQEILSHTTTQCYYAIRIFAGQDP	1340
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V1414M	c.4240G>A	Putative Benign		rs376330174	SIFT: deleterious Polyphen: probably damaging