Paralogue Annotation for RYR1 residue 2610

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2610
Reference Amino Acid: L - Leucine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2610

No paralogue variants have been mapped to residue 2610 for RYR1.

RYR1	DSMLHTVYRLSRGRSLTKAQRDVIEDCLMS>L<CRYIRPSMLQHLLRRLVFDVPILNEFAKMP	2640
RYR2	DSLLHTVYRLSKGCSLTKAQRDSIEVCLLS>I<CGQLRPSMMQHLLRRLVFDVPLLNEHAKMP	2606
RYR3	DSTLQTIYRLSKGRSLTKAQRDTIEECLLA>I<CNHLRPSMLQQLLRRLVFDVPQLNEYCKMP	2503
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.L2610F	c.7828C>T	Putative Benign			SIFT: Polyphen: