Paralogue Annotation for RYR1 residue 3509

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3509
Reference Amino Acid: L - Leucine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 3509

No paralogue variants have been mapped to residue 3509 for RYR1.

RYR1	AKAGDIQSGGSDQERTKKKRRGDRYSVQTS>L<IVATLKKMLPIGLNMCAPTDQDLITLAKTR	3539
RYR2	SKAA-----VSDQERKKMKRKGDRYSMQTS>L<IVAALKRLLPIGLNICAPGDQELIALAKNR	3495
RYR3	SKAMQVKSGGQDQERKKTKRRGDLYSIQTS>L<IVAALKKMLPIGLNMCTPGDQELISLAKSR	3396
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.L3509P	c.10526T>C	Putative Benign			SIFT: Polyphen: