|
|
|---|
 |
|
Known Diseases associated with this Protein: |  WOOLLY HAIR AUTOSOMAL RECESSIVE 2 (ARWH2)
| WOOLLY HAIR, AUTOSOMAL RECESSIVE 2, WITH OR WITHOUT HYPOTRICHOSIS
|
|  | 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. |
|---|
 Default View:
| |
|---|
Domains found on the Protein Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
|---|
| Swiss-Prot | VAR_059050 | Disease | p.TRP108ARG | Woolly hair autosomal recessive 2 (ARWH2) | | OMIM | 607365.0007 | Disease | p.CYS246SER | WOOLLY HAIR, AUTOSOMAL RECESSIVE 2, WITH OR WITHOUT HYPOTRICHOSIS | | OMIM | 607365.0008 | Disease | p.HIS248ASN | WOOLLY HAIR, AUTOSOMAL RECESSIVE 2, WITH OR WITHOUT HYPOTRICHOSIS | | OMIM | 607365.0005 | Disease | p.TRP108ARG | WOOLLY HAIR, AUTOSOMAL RECESSIVE 2, WITH OR WITHOUT 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 |
|
74762634
LIPH_HUMAN RecName: Full=Lipase member H; Short=LIPH; AltName: Full=LPD lipase-related protein; AltName: Full=Membrane-associated phosphatidic acid-selective phospholipase A1-alpha; Short=mPA-PLA1 alpha; AltName: Full=Phospholipase A1 member B; Flags: Precursor
4
0
3
0
1
