Paralogue Annotation for RYR1 residue 1018

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1018
Reference Amino Acid: P - Proline
Protein Domain:

Paralogue Variants mapped to RYR1 residue 1018

No paralogue variants have been mapped to residue 1018 for RYR1.

RYR1	AENGHNVWARDRVGQGWSYSAVQDIPARRN>P<RLVPYRLLDEATKRSNRDSLCQAVRTLLGY	1048
RYR2	AENAHNVWARDRIRQGWTYGIQQDVKNRRN>P<RLVPYTLLDDRTKKSNKDSLREAVRTLLGY	1060
RYR3	AENAHNVWAKDRIKQGWTYGIQQDLKNKRN>P<RLVPYALLDERTKKSNRDSLREAVRTFVGY	1047
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.P1018A	c.3052C>G	Putative Benign		rs143331857	SIFT: Polyphen: probably damaging