Paralogue Annotation for RYR1 residue 1647

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1647
Reference Amino Acid: M - Methionine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 1647

No paralogue variants have been mapped to residue 1647 for RYR1.

RYR1	RRAGERLGWAVQCQEPLTMMALHIPEENRC>M<DILELSERLDLQRFHSHTLRLYRAVCALGN	1677
RYR2	SRISERQGWLVQCLDPLQFMSLHIPEENRS>V<DILELTEQEELLKFHYHTLRLYSAVCALGN	1669
RYR3	ERVSERHGWVVQCLEPLQMMALHIPEENRC>V<DILELCEQEDLMRFHYHTLRLYSAVCALGN	1573
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.M1647T	c.4940T>C	Putative Benign		rs368726019	SIFT: deleterious Polyphen: benign