Paralogue Annotation for RYR2 residue 4758

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4758
Reference Amino Acid: S - Serine
Protein Domain: Transmembrane region

Paralogue Variants mapped to RYR2 residue 4758

No paralogue variants have been mapped to residue 4758 for RYR2.

RYR2	MSVLGHYNNFFFAAHLLDIAMGFKTLRTIL>S<SVTHNGKQLVLTVGLLAVVVYLYTVVAFNF	4788
RYR1	MSLLGHYNNFFFAAHLLDIAMGVKTLRTIL>S<SVTHNGKQLVMTVGLLAVVVYLYTVVAFNF	4859
RYR3	MSVLGHYNNFFFAAHLLDIAMGFKTLRTIL>S<SVTHNGKQLVLTVGLLAVVVYLYTVVAFNF	4691
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.S4758F	c.14273C>T	Putative Benign			SIFT: Polyphen: