Paralogue Annotation for RYR2 residue 4424

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4424
Reference Amino Acid: A - Alanine
Protein Domain: Transmembrane region


Paralogue Variants mapped to RYR2 residue 4424

No paralogue variants have been mapped to residue 4424 for RYR2.



RYR2NAGLSDLMSN-PVPMPE-V-QEKFQEQ--K>A<---KEEEKEEKEETKSEPEKAEGEDGEKEE4451
RYR1LGDMGDTTPAEPPTPEGSP-ILKRKLGVDG>V<EEELPPEPEPEPEPELEPEKADAENGEKEE4513
RYR3LGDLSEIIGKDEPPTLESTVQKKRKA---Q>A<---AEMKAANEAEGKVESEKADMEDGEKED4354
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.Ala4424Proc.13270G>C UnknownSIFT:
Polyphen: