Paralogue Annotation for RYR1 residue 2390

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2390
Reference Amino Acid: P - Proline
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2390

No paralogue variants have been mapped to residue 2390 for RYR1.

RYR1	KPECFGPALRGEGGSGLLAAIEEAIRISED>P<ARDGPGIRRDRRREHFGEEPPEENRVHLGH	2420
RYR2	RPECFGPALRGEGGNGLLAAMEEAIKIAED>P<SRDGPSPNS-GSSKTLDTEEEEDDTIHMGN	2386
RYR3	RPECFGPALRGEGGNGLLAAMQGAIKISEN>P<ALDLPSQGY-KREVSTGDDEEEEEIVHMGN	2283
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.P2390A	c.7168C>G	Putative Benign			SIFT: Polyphen: