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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 Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| dbSNP | rs61743589 | Polymorphism | p.ARG1225HIS | N/A | | dbSNP | rs2074435 | Polymorphism | p.GLN1310LEU | N/A | | dbSNP | rs17851503 | Polymorphism | p.GLY1375SER | N/A | | dbSNP | rs1008328 | Polymorphism | p.LEU1390PHE | N/A | | dbSNP | rs2285745 | Polymorphism | p.LEU850SER | N/A | | dbSNP | rs61747277 | Polymorphism | p.LYS771ARG | N/A | | dbSNP | rs61741470 | Polymorphism | p.MET1134ARG | N/A | | dbSNP | rs74518295 | Polymorphism | p.SER992LEU | N/A | | dbSNP | rs61734910 | Polymorphism | p.TRP1461GLY | N/A | | OMIM | 613583.0006 | Disease | p.ARG438HIS | MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE | | OMIM | 613583.0008 | Disease | p.ASP511ASN | MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE | | OMIM | 613583.0004 | Disease | p.GLN470TER | MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH CORTICAL MALFORMATIONS | | OMIM | 613583.0002 | Disease | p.GLU526LYS | MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH CORTICAL MALFORMATIONS | | OMIM | 613583.0003 | Disease | p.TRP224SER | MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH CORTICAL MALFORMATIONS | | OMIM | 613583.0011 | Disease | p.VAL65MET | MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL||MALFORMATIONS |
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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145580608
WD repeat-containing protein 62 isoform 1 [Homo sapiens]
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