|
|
|
|
Known Diseases associated with this Protein: | ARTHROGRYPOSIS, DISTAL, 2A (DA2A)
| ARTHROGRYPOSIS, DISTAL, 2B (DA2B)
| ARTHROGRYPOSIS, DISTAL, TYPE 2A
| ARTHROGRYPOSIS, DISTAL, TYPE 2B
| ARTHROGRYPOSIS, DISTAL, TYPE 2B, INCLUDED
|
| | 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 ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
---|
Swiss-Prot | VAR_030197 | Polymorphism | p.ALA1192THR | N/A | Swiss-Prot | VAR_056173 | Polymorphism | p.ALA1003VAL | N/A | Swiss-Prot | VAR_030384 | Disease | p.ALA1637VAL | Arthrogryposis, distal, 2B (DA2B) | Swiss-Prot | VAR_030196 | Polymorphism | p.ARG1137CYS | N/A | Swiss-Prot | VAR_030377 | Disease | p.ARG672CYS | Arthrogryposis, distal, 2A (DA2A) | Swiss-Prot | VAR_030378 | Disease | p.ARG672HIS | Arthrogryposis, distal, 2A (DA2A) | Swiss-Prot | VAR_030383 | Disease | p.ASP1622ALA | Arthrogryposis, distal, 2B (DA2B) | dbSNP | rs2285477 | Polymorphism | p.ASP1192ASN | N/A | Swiss-Prot | VAR_030375 | Disease | p.ASP517TYR | Arthrogryposis, distal, 2B (DA2B) | Swiss-Prot | VAR_030374 | Disease | p.GLU498GLY | Arthrogryposis, distal, 2A (DA2A) | Swiss-Prot | VAR_030373 | Disease | p.GLU375LYS | Arthrogryposis, distal, 2B (DA2B) | Swiss-Prot | VAR_030379 | Disease | p.GLY769VAL | Arthrogryposis, distal, 2B (DA2B) | dbSNP | rs2285475 | Polymorphism | p.LYS1046ASN | N/A | Swiss-Prot | VAR_030381 | Disease | p.LYS838GLU | Arthrogryposis, distal, 2B (DA2B) | Swiss-Prot | VAR_030372 | Disease | p.SER292CYS | Arthrogryposis, distal, 2B (DA2B) | Swiss-Prot | VAR_030371 | Disease | p.SER261PHE | Arthrogryposis, distal, 2B (DA2B) | Swiss-Prot | VAR_056174 | Polymorphism | p.THR1313ILE | N/A | Swiss-Prot | VAR_030370 | Disease | p.THR178ILE | Arthrogryposis, distal, 2B (DA2B) | Swiss-Prot | VAR_030376 | Disease | p.TYR583SER | Arthrogryposis, distal, 2A (DA2A) | Swiss-Prot | VAR_030380 | Disease | p.VAL825ASP | Arthrogryposis, distal, 2A (DA2A) | OMIM | 160720.0008 | Disease | p.ALA234THR | ARTHROGRYPOSIS, DISTAL, TYPE 2B | OMIM | 160720.0002 | Disease | p.ARG672CYS | ARTHROGRYPOSIS, DISTAL, TYPE 2A | OMIM | 160720.0001 | Disease | p.ARG672HIS | ARTHROGRYPOSIS, DISTAL, TYPE 2A | OMIM | 160720.0007 | Disease | p.ASP462GLY | ARTHROGRYPOSIS, DISTAL, TYPE 2B | OMIM | 160720.0006 | Disease | p.GLU375LYS | ARTHROGRYPOSIS, DISTAL, TYPE 2B | OMIM | 160720.0003 | Disease | p.THR178ILE | ARTHROGRYPOSIS, DISTAL, TYPE 2A||ARTHROGRYPOSIS, DISTAL, TYPE 2B, INCLUDED | OMIM | 160720.0004 | Disease | p.VAL825ASP | ARTHROGRYPOSIS, DISTAL, TYPE 2A |
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 |
|