Paralogue Annotation for RYR2 residue 4100

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4100
Reference Amino Acid: V - Valine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 4100

No paralogue variants have been mapped to residue 4100 for RYR2.

RYR2	AETDENETLDYEEFVKRFHEPAKDIGFNVA>V<LLTNLSEHMPNDTRLQTFLELAESVLNYFQ	4130
RYR1	SEADENEMINCEEFANRFQEPARDIGFNVA>V<LLTNLSEHVPHDPRLHNFLELAESILEYFR	4174
RYR3	AEADENDMFNYVDFVDRFHEPAKDIGFNVA>V<LLTNLSEHMPNDSRLKCLLDPAESVLNYFE	4026
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V4100I	c.12298G>A	Putative Benign			SIFT: Polyphen: