Paralogue Annotation for RYR2 residue 2468

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2468
Reference Amino Acid: M - Methionine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 2468

No paralogue variants have been mapped to residue 2468 for RYR2.

RYR2	IAFQMPTIAKDGNVVEPDMSAGFCPDHKAA>M<VLFLDRVYGIEVQDFLLHLLEVGFLPDLRA	2498
RYR1	LPLQIPTLGKDGALVQPKMSASFVPDHKAS>M<VLFLDRVYGIENQDFLLHVLDVGFLPDMRA	2532
RYR3	IPLKLPSLNKDGSVSEPDMAANFCPDHKAP>M<VLFLDRVYGIKDQTFLLHLLEVGFLPDLRA	2395
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.M2468V	c.7402A>G	Putative Benign			SIFT: Polyphen: