Paralogue Annotation for RYR1 residue 2477

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2477
Reference Amino Acid: P - Proline
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2477

No paralogue variants have been mapped to residue 2477 for RYR1.

RYR1	KGEALRIRAILRSLVPLEDLVGIISLPLQI>P<TLGKDGALVQPKMSASFVPDHKASMVLFLD	2507
RYR2	KGEAIRIRSILRSLIPLGDLVGVISIAFQM>P<TIAKDGNVVEPDMSAGFCPDHKAAMVLFLD	2473
RYR3	KGEAIRIRSILRSLVPTEDLVGIISIPLKL>P<SLNKDGSVSEPDMAANFCPDHKAPMVLFLD	2370
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.P2477S	c.7429C>T	Putative Benign		rs200042399	SIFT: Polyphen: benign