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Known Diseases associated with this Protein: |  ANTLEY-BIXLER SYNDROME WITHOUT GENI
| ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STE
| ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS,
| APERT SYNDROME
| BEARE-STEVENSON CUTIS GYRATA SYNDROME
| BENT BONE DYSPLASIA SYNDROME
| CRANIOSYNOSTOSIS, NONCLASSIFIABLE AUTOSOMAL DOMINANT, INCLUDED;;
| CRANIOSYNOSTOSIS, NONSYNDROMIC UNICORONAL
| CROUZON SYNDROME
| CROUZON SYNDROME, INCLUDED
| ENDOMETRIAL CANCER, SOMATIC, INCLUDED
| GASTRIC CANCER, SOMATIC, INCLUDED
| INCLUDED
| JACKSON-WEISS SYNDROME
| JACKSON-WEISS SYNDROME, INCLUDED
| JACKSON-WEISS SYNDROME, INCLUDED;;
| LADD SYNDROME
| PFEIFFER SYNDROME
| PFEIFFER SYNDROME VARIANT
| PFEIFFER SYNDROME, INCLUDED
| PFEIFFER SYNDROME, INCLUDED;;
| PFEIFFER SYNDROME, TYPE III
| SCAPHOCEPHALY AND AXENFELD-RIEGER AN
| SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION, INCLUDED
| 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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 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 | rs755793 | Polymorphism | p.MET186THR | N/A | | OMIM | 176943.0006 | Disease | p.ALA344ALA | CROUZON SYNDROME||CRANIOSYNOSTOSIS, NONCLASSIFIABLE AUTOSOMAL DOMINANT, INCLUDED;;||SCAPHOCEPHALY AND AXENFELD-RIEGER AN | | OMIM | 176943.0007 | Disease | p.ALA344GLY | JACKSON-WEISS SYNDROME||CROUZON SYNDROME, INCLUDED | | OMIM | 176943.0041 | Disease | p.ALA337PRO | CROUZON SYNDROME | | OMIM | 176943.0028 | Disease | p.ALA315SER | CRANIOSYNOSTOSIS, NONSYNDROMIC UNICORONAL | | OMIM | 176943.0042 | Disease | p.ALA337THR | VARIANT OF UNKNOWN SIGNIFICANCE | | OMIM | 176943.0037 | Disease | p.ALA628THR | LADD SYNDROME | | OMIM | 176943.0035 | Disease | p.ALA648THR | LADD SYNDROME | | OMIM | 176943.0039 | Disease | p.ASP321ALA | PFEIFFER SYNDROME | | OMIM | 176943.0002 | Disease | p.CYS342ARG | CROUZON SYNDROME||PFEIFFER SYNDROME, INCLUDED;;||JACKSON-WEISS SYNDROME, INCLUDED;;||ANTLEY-BIXLER SYNDROME WITHOUT GENI | | OMIM | 176943.0003 | Disease | p.CYS342SER | CROUZON SYNDROME||JACKSON-WEISS SYNDROME, INCLUDED;;||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STE | | OMIM | 176943.0013 | Disease | p.CYS342TRP | CROUZON SYNDROME | | OMIM | 176943.0001 | Disease | p.CYS342TYR | CROUZON SYNDROME||PFEIFFER SYNDROME, INCLUDED | | OMIM | 176943.0014 | Disease | p.GLN289PRO | CROUZON SYNDROME||JACKSON-WEISS SYNDROME, INCLUDED | | OMIM | 176943.0033 | Disease | p.GLU565ALA | PFEIFFER SYNDROME | | OMIM | 176943.0020 | Disease | p.LYS292GLU | CROUZON SYNDROME | | OMIM | 176943.0034 | Disease | p.LYS526GLU | CROUZON SYNDROME||SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION, INCLUDED | | OMIM | 176943.0043 | Disease | p.MET391ARG | BENT BONE DYSPLASIA SYNDROME | | OMIM | 176943.0011 | Disease | p.PRO253ARG | APERT SYNDROME | | OMIM | 176943.0018 | Disease | p.PRO253SER | PFEIFFER SYNDROME VARIANT | | OMIM | 176943.0009 | Disease | p.SER347CYS | CROUZON SYNDROME | | OMIM | 176943.0024 | Disease | p.SER351CYS | PFEIFFER SYNDROME, TYPE III||ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS,||INCLUDED | | OMIM | 176943.0005 | Disease | p.SER354CYS | CROUZON SYNDROME | | OMIM | 176943.0016 | Disease | p.SER372CYS | BEARE-STEVENSON CUTIS GYRATA SYNDROME | | OMIM | 176943.0017 176943.0018 | Disease | p.SER252PHE | PFEIFFER SYNDROME VARIANT | | OMIM | 176943.0029 | Disease | p.SER267PRO | PFEIFFER SYNDROME||GASTRIC CANCER, SOMATIC, INCLUDED | | OMIM | 176943.0010 | Disease | p.SER252TRP | APERT SYNDROME||ENDOMETRIAL CANCER, SOMATIC, INCLUDED | | OMIM | 176943.0012 | Disease | p.THR341PRO | PFEIFFER SYNDROME | | OMIM | 176943.0021 | Disease | p.TRP290ARG | CROUZON SYNDROME | | OMIM | 176943.0019 | Disease | p.TRP290CYS | PFEIFFER SYNDROME | | OMIM | 176943.0022 | Disease | p.TRP290GLY | CROUZON SYNDROME | | OMIM | 176943.0044 | Disease | p.TYR381ASP | BENT BONE DYSPLASIA SYNDROME | | OMIM | 176943.0008 | Disease | p.TYR328CYS | CROUZON SYNDROME | | OMIM | 176943.0015 | Disease | p.TYR375CYS | BEARE-STEVENSON CUTIS GYRATA SYNDROME||ENDOMETRIAL CANCER, SOMATIC, INCLUDED | | OMIM | 176943.0004 | Disease | p.TYR340HIS | CROUZON SYNDROME |
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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fibroblast growth factor receptor 2 isoform 3 precursor [Homo sapiens]
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