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Known Diseases associated with this Protein: |  DEVELOPMENTAL VERBAL DYSPRAXIA
| SPEECH-LANGUAGE DISORDER 1 (SPCH1)
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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 | Domain ↕ | CD Accession ↕ | E-Value ↕ | Start ↕ | End ↕ |
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| FH | smart00339 | 1.7e-39 | 504 | 588 |
Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| Swiss-Prot | VAR_012278 | Disease | p.ARG553HIS | Speech-language disorder 1 (SPCH1) | | OMIM | 605317.0001 | Disease | p.ARG528HIS | DEVELOPMENTAL VERBAL DYSPRAXIA | | OMIM | 605317.0002 | Disease | p.ARG303TER | DEVELOPMENTAL VERBAL DYSPRAXIA |
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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17432967
FOXP2_HUMAN RecName: Full=Forkhead box protein P2; AltName: Full=CAG repeat protein 44; AltName: Full=Trinucleotide repeat-containing gene 10 protein
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