Known Diseases associated with this Protein: |  MENTAL RETARDATION, X-LINKED, SYNDROMIC 32
| MENTAL RETARDATION, X-LINKED, SYNDROMIC, 32 (MRXS32)
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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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| Swiss-Prot | VAR_068898 | Disease | p.HIS101GLN | Mental retardation, X-linked, syndromic, 32 (MRXS32) | | OMIM | 300138.0001 | Disease | p.HIS101GLN | MENTAL RETARDATION, X-LINKED, SYNDROMIC 32 |
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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85681058
CLIC2_HUMAN RecName: Full=Chloride intracellular channel protein 2; AltName: Full=XAP121
2
0
1
0
1
