Paralogue Annotation for RYR1 residue 1397

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1397
Reference Amino Acid: M - Methionine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 1397

No paralogue variants have been mapped to residue 1397 for RYR1.

RYR1	AQPARAENEKDATTEKNKKRGFLFKAKKVA>M<MTQPPATPTLPRLPHDVVPADNRDDPEIIL	1427
RYR2	----------DYAQEKP-SR--LKQRFLLR>R<TKPDYSTSHSARLTEDVLADDRDDYDFLMQ	1422
RYR3	------------------------------>-<---------SPCLDSEAFQKRKQMQEILSH	1323
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.M1397K	c.4190T>A	Putative Benign			SIFT: Polyphen:
p.M1397I	c.4191G>T	Putative Benign			SIFT: Polyphen: