Paralogue Annotation for RYR1 residue 3505

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3505
Reference Amino Acid: V - Valine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 3505

No paralogue variants have been mapped to residue 3505 for RYR1.

RYR1	KSKMAKAGDIQSGGSDQERTKKKRRGDRYS>V<QTSLIVATLKKMLPIGLNMCAPTDQDLITL	3535
RYR2	KSKMSKAA-----VSDQERKKMKRKGDRYS>M<QTSLIVAALKRLLPIGLNICAPGDQELIAL	3491
RYR3	KSKMSKAMQVKSGGQDQERKKTKRRGDLYS>I<QTSLIVAALKKMLPIGLNMCTPGDQELISL	3392
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V3505L	c.10513G>C	Putative Benign			SIFT: Polyphen: