Paralogue Annotation for RYR1 residue 278

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 278
Reference Amino Acid: P - Proline
Protein Domain:

Paralogue Variants mapped to RYR1 residue 278

No paralogue variants have been mapped to residue 278 for RYR1.

RYR1	GGAVCTHARSLWRLEPLRISWSGSHLRWGQ>P<LRVRHVTTGQYLALTEDQGLVVVDASKAHT	308
RYR2	GGAVSVHARSLWRLETLRVAWSGSHIRWGQ>P<FRLRHVTTGKYLSLMEDKNLLLMDKEKADV	324
RYR3	AGGAGTRARSLWRVEPLRISWSGSNIRWGQ>A<FRLRHLTTGHYLALTEDQGLILQDRAKSDT	313
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.P278S	c.832C>T	Putative Benign			SIFT: Polyphen: