|  | 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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| Swiss-Prot | VAR_058113 | Disease | p.GLU130LYS | Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly (CCF) | | dbSNP | rs479632 | Polymorphism | p.GLY299ALA | N/A | | OMIM | 602149.0001 | Disease | p.GLU130LYS | CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR||MIRROR-IMAGE POLYDACTYLY |
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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108935922
PITX1_HUMAN RecName: Full=Pituitary homeobox 1; AltName: Full=Hindlimb-expressed homeobox protein backfoot; AltName: Full=Homeobox protein PITX1; AltName: Full=Paired-like homeodomain transcription factor 1
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