Paralogue Annotation for RYR2 residue 4435

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4435
Reference Amino Acid: T - Threonine
Protein Domain: Transmembrane region

Paralogue Variants mapped to RYR2 residue 4435

No paralogue variants have been mapped to residue 4435 for RYR2.

RYR2	MPE-V-QEKFQEQ--KA---KEEEKEEKEE>T<KSEPEKAEGEDGEKEEKAKEDKGKQKLR--	4463
RYR1	PEGSP-ILKRKLGVDGVEEELPPEPEPEPE>P<ELEPEKADAENGEKEEVPEPTPEPPKKQ--	4525
RYR3	TLESTVQKKRKA---QA---AEMKAANEAE>G<KVESEKADMEDGEKEDKDKEEEQAEYLWTE	4368
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.T4435A	c.13303A>G	Putative Benign		rs374019555	SIFT: tolerated Polyphen: benign