|
|
|
|
| | 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_011219 | Disease | p.ARG1661CYS | Alport syndrome, autosomal recessive (APSAR) | Swiss-Prot | VAR_011213 | Polymorphism | p.ARG1215GLN | N/A | dbSNP | rs34505188 | Polymorphism | p.ARG408HIS | N/A | dbSNP | rs57611801 | Polymorphism | p.ASP1269GLU | N/A | Swiss-Prot | VAR_011218 | Polymorphism | p.ASP1347GLU | N/A | dbSNP | rs55703767 | Polymorphism | p.ASP326TYR | N/A | Swiss-Prot | VAR_001909 | Polymorphism | p.GLN1495ARG | N/A | dbSNP | rs6436669 | Polymorphism | p.GLU162GLY | N/A | dbSNP | rs80109666 | Polymorphism | p.GLU269LYS | N/A | Swiss-Prot | VAR_011211 | Disease | p.GLY1167ARG | Alport syndrome, autosomal dominant (APSAD) | Swiss-Prot | VAR_030950 | Disease | p.GLY1216ARG | Alport syndrome, autosomal recessive (APSAR) | Swiss-Prot | VAR_011206 | Disease | p.GLY407ARG | Alport syndrome, autosomal recessive (APSAR) | dbSNP | rs13424243 | Polymorphism | p.GLY43ARG | N/A | Swiss-Prot | VAR_011210 | Disease | p.GLY640ARG | Alport syndrome, autosomal recessive (APSAR) | Swiss-Prot | VAR_030946 | Disease | p.GLY739ARG | Alport syndrome, autosomal recessive (APSAR) | Swiss-Prot | VAR_030947 | Disease | p.GLY853ARG | Alport syndrome, autosomal recessive (APSAR) | Swiss-Prot | VAR_030945 | Disease | p.GLY532ASP | Alport syndrome, autosomal recessive (APSAR) | Swiss-Prot | VAR_030949 | Disease | p.GLY1015GLU | Hematuria, benign familial (BFH) | Swiss-Prot | VAR_011212 | Disease | p.GLY1207GLU | Alport syndrome, autosomal recessive (APSAR) | Swiss-Prot | VAR_011217 | Disease | p.GLY1334GLU | Alport syndrome, autosomal recessive (APSAR) | Swiss-Prot | VAR_011204 | Disease | p.GLY297GLU | Alport syndrome, autosomal recessive (APSAR) | Swiss-Prot | VAR_011215 | Disease | p.GLY1277SER | Alport syndrome, autosomal recessive (APSAR) | Swiss-Prot | VAR_030948 | Disease | p.GLY985VAL | Hematuria, benign familial (BFH) | dbSNP | rs11677877 | Polymorphism | p.HIS451ARG | N/A | Swiss-Prot | VAR_011216 | Polymorphism | p.ILE1330THR | N/A | dbSNP | rs10178458 | Polymorphism | p.LEU141PRO | N/A | Swiss-Prot | VAR_001908 | Polymorphism | p.LEU1474PRO | N/A | Swiss-Prot | VAR_061118 | Polymorphism | p.LYS834ARG | N/A | dbSNP | rs28381984 | Polymorphism | p.PRO574LEU | N/A | OMIM | 120070.0002 | Disease | p.ARG1481TER | ALPORT SYNDROME, AUTOSOMAL RECESSIVE | OMIM | 120070.0010 | Disease | p.GLY1167ARG | ALPORT SYNDROME, AUTOSOMAL DOMINANT | OMIM | 120070.0007 | Disease | p.GLY1015GLU | HEMATURIA, BENIGN FAMILIAL | OMIM | 120070.0008 | Disease | p.GLY985VAL | HEMATURIA, BENIGN FAMILIAL | OMIM | 120070.0003 | Disease | p.SER1524TER | ALPORT SYNDROME, 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 |
|