Paralogue Annotation for RYR1 residue 2393

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2393
Reference Amino Acid: D - Aspartate
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2393

No paralogue variants have been mapped to residue 2393 for RYR1.

RYR1	CFGPALRGEGGSGLLAAIEEAIRISEDPAR>D<GPGIRRDRRREHFGEEPPEENRVHLGHAIM	2423
RYR2	CFGPALRGEGGNGLLAAMEEAIKIAEDPSR>D<GPSPNS-GSSKTLDTEEEEDDTIHMGNAIM	2389
RYR3	CFGPALRGEGGNGLLAAMQGAIKISENPAL>D<LPSQGY-KREVSTGDDEEEEEIVHMGNAIM	2286
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.D2393A	c.7178A>C	Putative Benign		rs376251146	SIFT: deleterious Polyphen: probably damaging
p.D2393G	c.7178A>G	Unknown			SIFT: Polyphen: benign