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Known Diseases associated with this Protein: | ACHONDROPLASIA
| BEARE-STEVENSON SYNDROME-LIKE ANOMALIES, INCLUDED
| BLADDER CANCER, SOMATIC, INCLUDED
| BLADDER CANCER, SOMATIC, INCLUDED;;
| CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME
| CERVICAL CANCER, SOMATIC, INCLUDED;;
| COLORECTAL CANCER, SOMATIC
| CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS
| HYPOCHONDROPLASIA
| HYPOCHONDROPLASIA, INCLUDED
| KERATOSIS, S
| LADD SYNDROME
| MUENKE SYNDROME
| MULTIPLE MYELOMA, SOMATIC, INCLUDED;;
| NEVUS, EPIDERMAL, SOMATIC, INCLUDED
| SADDAN DYSPLASIA
| SAETHRE-CHOTZEN SYNDROME, INCLUDED;;
| SKELETAL DYSPLASIA WITH ACANTHOSIS NIGRICANS, IN
| SPERMATOCYTIC SEMINOMA, SOMATIC, INCLUDED
| THANATOPHORIC DYSPLASIA, TYPE I
| THANATOPHORIC DYSPLASIA, TYPE I, INCLUDED
| THANATOPHORIC DYSPLASIA, TYPE II
| VARIANT OF UNKNOWN SIGNIFICANCE
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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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Domains found on the Protein Table of Mutations found on the ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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OMIM | 134934.0011 | Disease | p.ALA391GLU | CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS | OMIM | 134934.0035 | Disease | p.ALA334THR | VARIANT OF UNKNOWN SIGNIFICANCE | OMIM | 134934.0005 | Disease | p.ARG248CYS | THANATOPHORIC DYSPLASIA, TYPE I||MULTIPLE MYELOMA, SOMATIC, INCLUDED;;||SKELETAL DYSPLASIA WITH ACANTHOSIS NIGRICANS, IN | OMIM | 134934.0029 | Disease | p.ARG621HIS | CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME | OMIM | 134934.0034 | Disease | p.ASN540LYS | THANATOPHORIC DYSPLASIA, TYPE I | OMIM | 134934.0023 | Disease | p.ASN540SER | HYPOCHONDROPLASIA | OMIM | 134934.0018 | Disease | p.ASN540THR | HYPOCHONDROPLASIA | OMIM | 134934.0028 | Disease | p.ASP513ASN | LADD SYNDROME | OMIM | 134934.0034 | Disease | p.GLN485ARG | THANATOPHORIC DYSPLASIA, TYPE I | OMIM | 134934.0025 | Disease | p.GLU322LYS | COLORECTAL CANCER, SOMATIC | OMIM | 134934.0027 | Disease | p.GLY380ARG | ACHONDROPLASIA | OMIM | 134934.0033 | Disease | p.GLY370CYS | THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL, SOMATIC, INCLUDED | OMIM | 134934.0003 | Disease | p.GLY375CYS | ACHONDROPLASIA | OMIM | 134934.0019 | Disease | p.ILE538VAL | HYPOCHONDROPLASIA | OMIM | 134934.0027 | Disease | p.LEU377ARG | ACHONDROPLASIA | OMIM | 134934.0022 | Disease | p.LYS650GLN | HYPOCHONDROPLASIA | OMIM | 134934.0024 | Disease | p.LYS652GLN | HYPOCHONDROPLASIA||BLADDER CANCER, SOMATIC, INCLUDED | OMIM | 134934.0004 | Disease | p.LYS650GLU | THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC, INCLUDED;;||SPERMATOCYTIC SEMINOMA, SOMATIC, INCLUDED | OMIM | 134934.0015 | Disease | p.LYS650MET | SADDAN DYSPLASIA||THANATOPHORIC DYSPLASIA, TYPE I, INCLUDED | OMIM | 134934.0014 | Disease | p.PRO250ARG | MUENKE SYNDROME||SAETHRE-CHOTZEN SYNDROME, INCLUDED;;||BEARE-STEVENSON SYNDROME-LIKE ANOMALIES, INCLUDED | OMIM | 134934.0013 | Disease | p.SER249CYS | THANATOPHORIC DYSPLASIA, TYPE I||CERVICAL CANCER, SOMATIC, INCLUDED;;||BLADDER CANCER, SOMATIC, INCLUDED;;||KERATOSIS, S | OMIM | 134934.0030 | Disease | p.SER279CYS | ACHONDROPLASIA||HYPOCHONDROPLASIA, INCLUDED | OMIM | 134934.0006 | Disease | p.SER371CYS | THANATOPHORIC DYSPLASIA, TYPE I | OMIM | 134934.0032 | Disease | p.SER84LEU | HYPOCHONDROPLASIA | OMIM | 134934.0008 | Disease | p.TER807ARG | THANATOPHORIC DYSPLASIA, TYPE I | OMIM | 134934.0009 | Disease | p.TER807CYS | THANATOPHORIC DYSPLASIA, TYPE I | OMIM | 134934.0007 | Disease | p.TER807GLY | THANATOPHORIC DYSPLASIA, TYPE I | OMIM | 134934.0031 | Disease | p.TYR278CYS | HYPOCHONDROPLASIA | OMIM | 134934.0016 | Disease | p.TYR373CYS | THANATOPHORIC DYSPLASIA, TYPE I |
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.
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