Known Diseases associated with this Protein: |  MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE
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Domains found on the Protein Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| OMIM | 612395.0004 | Disease | p.GLN308TER | MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE | | OMIM | 612395.0002 | Disease | p.SER39TER | MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE | | OMIM | 612395.0001 | Disease | p.TYR270TER | MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE |
Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.
| DMDM_info@umbc.edu | 1000 Hilltop Circle, Baltimore, MD
21250 | Department of Biological Sciences | Phone: 410-455-2258 |
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6685604
CHKB_HUMAN RecName: Full=Choline/ethanolamine kinase; AltName: Full=Choline kinase beta; Short=CK; Short=CKB; AltName: Full=Choline kinase-like protein; AltName: Full=Ethanolamine kinase; Short=EK; AltName: Full=Ethanolamine kinase beta; Short=EKB; AltName: Full=choline/ethanolamine kinase beta; Short=CKEKB
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