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Known Diseases associated with this Protein: |  SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS
| SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS (SOFT)
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|  | Tips: The Domains on the Default View are decided by the Domain's E-Value. Clicking a check box will display or hide the correlated domain. To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic. |
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 Default View:
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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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| dbSNP | rs35898691 | Polymorphism | p.GLN348HIS | N/A | | Swiss-Prot | VAR_057627 | Polymorphism | p.GLY79SER | N/A | | Swiss-Prot | VAR_068884 | Disease | p.LEU171PRO | Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis (SOFT) | | OMIM | 614783.0001 | Disease | p.ARG81TER | SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS | | OMIM | 614783.0002 | Disease | p.LEU171PRO | SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS |
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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91207986
POC1A_HUMAN RecName: Full=POC1 centriolar protein homolog A; AltName: Full=Pix2; AltName: Full=Proteome of centriole protein 1A; AltName: Full=WD repeat-containing protein 51A
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