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Known Diseases associated with this Protein: | ACHONDROPLASIA
| ACHONDROPLASIA (ACH)
| BEARE-STEVENSON SYNDROME-LIKE ANOMALIES, INCLUDED
| BLADDER CANCER, SOMATIC, INCLUDED
| BLADDER CANCER, SOMATIC, INCLUDED;;
| CAMPTODACTYLY TALL STATURE AND HEARING LOSS SYNDROME (CATSHL SYNDROME)
| CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME
| CERVICAL CANCER, SOMATIC, INCLUDED;;
| CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS
| CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (CAN)
| HYPOCHONDROPLASIA
| HYPOCHONDROPLASIA (HCH)
| HYPOCHONDROPLASIA, INCLUDED
| KERATINOCYTIC NON-EPIDERMOLYTIC NEVUS (KNEN)
| KERATOSIS, S
| LACRIMO-AURICULO-DENTO-DIGITAL SYNDROME (LADDS)
| LADD SYNDROME
| MUENKE SYNDROME
| MUENKE SYNDROME (MNKS)
| 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 1 (TD1)
| THANATOPHORIC DYSPLASIA 2 (TD2)
| THANATOPHORIC DYSPLASIA, TYPE I
| THANATOPHORIC DYSPLASIA, TYPE I, INCLUDED
| THANATOPHORIC DYSPLASIA, TYPE II
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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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Swiss-Prot | VAR_004156 | Disease | p.ALA391GLU | Crouzon syndrome with acanthosis nigricans (CAN) | Swiss-Prot | VAR_022169 | Polymorphism | p.ALA441THR | N/A | Swiss-Prot | VAR_022170 | Polymorphism | p.ALA717THR | N/A | Swiss-Prot | VAR_004148 | Disease | p.ARG248CYS | Thanatophoric dysplasia 1 (TD1) | Swiss-Prot | VAR_029108 | Disease | p.ARG621HIS | Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) | Swiss-Prot | VAR_004158 | Disease | p.ASN540LYS | Hypochondroplasia (HCH) | Swiss-Prot | VAR_018389 | Disease | p.ASN540SER | Hypochondroplasia (HCH) | Swiss-Prot | VAR_004159 | Disease | p.ASN540THR | Hypochondroplasia (HCH) | Swiss-Prot | VAR_029887 | Disease | p.ASP513ASN | Lacrimo-auriculo-dento-digital syndrome (LADDS) | Swiss-Prot | VAR_042210 | Polymorphism | p.ASP646ASN | N/A | Swiss-Prot | VAR_042208 | Polymorphism | p.CYS228ARG | N/A | Swiss-Prot | VAR_018388 | Polymorphism | p.GLU322LYS | N/A | Swiss-Prot | VAR_004155 | Disease | p.GLY380ARG | Keratinocytic non-epidermolytic nevus (KNEN) | Swiss-Prot | VAR_022167 | Polymorphism | p.GLY65ARG | N/A | Swiss-Prot | VAR_004151 | Disease | p.GLY370CYS | Thanatophoric dysplasia 1 (TD1) | Swiss-Prot | VAR_004154 | Disease | p.GLY375CYS | Achondroplasia (ACH) | Swiss-Prot | VAR_022171 | Polymorphism | p.ILE726PHE | N/A | Swiss-Prot | VAR_004157 | Disease | p.ILE538VAL | Hypochondroplasia (HCH) | Swiss-Prot | VAR_018390 | Disease | p.LYS650GLN | Hypochondroplasia (HCH) | Swiss-Prot | VAR_004160 | Disease | p.LYS650GLU | Thanatophoric dysplasia 2 (TD2) | Swiss-Prot | VAR_004161 | Disease | p.LYS650MET | Thanatophoric dysplasia 1 (TD1) | Swiss-Prot | VAR_022168 | Polymorphism | p.PHE384LEU | N/A | Swiss-Prot | VAR_004150 | Disease | p.PRO250ARG | Muenke syndrome (MNKS) | Swiss-Prot | VAR_004149 | Disease | p.SER249CYS | Thanatophoric dysplasia 1 (TD1) | Swiss-Prot | VAR_004152 | Disease | p.SER371CYS | Thanatophoric dysplasia 1 (TD1) | Swiss-Prot | VAR_042209 | Polymorphism | p.THR338MET | N/A | Swiss-Prot | VAR_042207 | Polymorphism | p.THR79SER | N/A | Swiss-Prot | VAR_004153 | Disease | p.TYR373CYS | Thanatophoric dysplasia 1 (TD1) | OMIM | 134934.0011 | Disease | p.ALA389GLU | CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS | 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.ARG619HIS | CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME | OMIM | 134934.0034 | Disease | p.ASN538LYS | THANATOPHORIC DYSPLASIA, TYPE I | OMIM | 134934.0023 | Disease | p.ASN538SER | HYPOCHONDROPLASIA | OMIM | 134934.0018 | Disease | p.ASN538THR | HYPOCHONDROPLASIA | OMIM | 134934.0028 | Disease | p.ASP511ASN | LADD SYNDROME | OMIM | 134934.0034 | Disease | p.GLN483ARG | THANATOPHORIC DYSPLASIA, TYPE I | OMIM | 134934.0027 | Disease | p.GLY378ARG | ACHONDROPLASIA | OMIM | 134934.0033 | Disease | p.GLY368CYS | THANATOPHORIC DYSPLASIA, TYPE I||NEVUS, EPIDERMAL, SOMATIC, INCLUDED | OMIM | 134934.0003 | Disease | p.GLY373CYS | ACHONDROPLASIA | OMIM | 134934.0019 | Disease | p.ILE536VAL | HYPOCHONDROPLASIA | OMIM | 134934.0027 | Disease | p.LEU375ARG | ACHONDROPLASIA | OMIM | 134934.0022 | Disease | p.LYS648GLN | HYPOCHONDROPLASIA | OMIM | 134934.0024 | Disease | p.LYS650GLN | HYPOCHONDROPLASIA||BLADDER CANCER, SOMATIC, INCLUDED | OMIM | 134934.0004 | Disease | p.LYS648GLU | THANATOPHORIC DYSPLASIA, TYPE II||MULTIPLE MYELOMA, SOMATIC, INCLUDED;;||SPERMATOCYTIC SEMINOMA, SOMATIC, INCLUDED | OMIM | 134934.0015 | Disease | p.LYS648MET | 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.SER369CYS | THANATOPHORIC DYSPLASIA, TYPE I | OMIM | 134934.0032 | Disease | p.SER84LEU | HYPOCHONDROPLASIA | OMIM | 134934.0008 | Disease | p.TER805ARG | THANATOPHORIC DYSPLASIA, TYPE I | OMIM | 134934.0009 | Disease | p.TER805CYS | THANATOPHORIC DYSPLASIA, TYPE I | OMIM | 134934.0007 | Disease | p.TER805GLY | THANATOPHORIC DYSPLASIA, TYPE I | OMIM | 134934.0031 | Disease | p.TYR278CYS | HYPOCHONDROPLASIA | OMIM | 134934.0016 | Disease | p.TYR371CYS | 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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