Paralogue Annotation for RYR2 residue 3807

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3807
Reference Amino Acid: A - Alanine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 3807

No paralogue variants have been mapped to residue 3807 for RYR2.

RYR2	MLDYLKEKKDVGFFQSLAGLMQSCSVLDLN>A<FERQNKAEGLGMVTEEGS------GEKVLQ	3831
RYR1	MLDYLKDKKEVGFFQSIQALMQTCSVLDLN>A<FERQNKAEGLGMVNEDGTVINRQNGEKVMA	3875
RYR3	MLDYLKEKKDAGFFQSLSGLMQSCSVLDLN>A<FERQNKAEGLGMVTEEGTLIVRERGEKVLQ	3727
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.A3807V	c.11420C>T	Putative Benign			SIFT: Polyphen: