Paralogue Annotation for RYR1 residue 853

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 853
Reference Amino Acid: C - Cysteine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 853

No paralogue variants have been mapped to residue 853 for RYR1.

RYR1	EPIKEYRREGPRGPHLVGPSRCLSHTDFVP>C<PVDTVQIVLPPHLERIREKLAENIHELWAL	883
RYR2	EHSREYKQERTYTRDLLGPTVSLTQAAFTP>I<PVDTSQIVLPPHLERIREKLAENIHELWVM	895
RYR3	EPVKEYKRDADGIRDLLGTTQFLSQASFIP>C<PVDTSQVILPPHLEKIRDRLAENIHELWGM	882
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.C853S	c.2557T>A	Putative Benign			SIFT: Polyphen: