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Known Diseases associated with this Protein: |  NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE (SCN3)
| NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE
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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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Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| Swiss-Prot | VAR_064514 | Disease | p.LEU130ARG | Neutropenia, severe congenital 3, autosomal recessive (SCN3) | | Swiss-Prot | VAR_062259 | Disease | p.PHE141LEU | Neutropenia, severe congenital 3, autosomal recessive (SCN3) | | Swiss-Prot | VAR_062258 | Polymorphism | p.PRO49SER | N/A | | Swiss-Prot | VAR_062260 | Polymorphism | p.SER151GLY | N/A | | Swiss-Prot | VAR_062261 | Polymorphism | p.SER278PRO | N/A | | Swiss-Prot | VAR_064515 | Disease | p.VAL172ILE | Neutropenia, severe congenital 3, autosomal recessive (SCN3) | | OMIM | 605998.0005 | Disease | p.ARG86TER | NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE | | OMIM | 605998.0001 | Disease | p.GLN190TER | NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE |
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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20141308
HAX1_HUMAN RecName: Full=HCLS1-associated protein X-1; AltName: Full=HS1-associating protein X-1; Short=HAX-1; AltName: Full=HS1-binding protein 1; Short=HSP1BP-1
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