Paralogue Annotation for RYR1 residue 1402

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1402
Reference Amino Acid: P - Proline
Protein Domain:

Paralogue Variants mapped to RYR1 residue 1402

No paralogue variants have been mapped to residue 1402 for RYR1.

RYR1	AENEKDATTEKNKKRGFLFKAKKVAMMTQP>P<ATPTLPRLPHDVVPADNRDDPEIILNTTTY	1432
RYR2	-----DYAQEKP-SR--LKQRFLLRRTKPD>Y<STSHSARLTEDVLADDRDDYDFLMQT-STY	1426
RYR3	------------------------------>-<----SPCLDSEAFQKRKQMQEILSHTTTQC	1328
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.P1402A	c.4204C>G	Putative Benign		rs141678782	SIFT: Polyphen: probably damaging
p.P1402L	c.4205C>T	Putative Benign			SIFT: Polyphen: