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Known Diseases associated with this Protein: |  ALPORT SYNDROME, WITH MACROTHROMBOCYTOPENIA (APSM)
| DEAFNESS, AUTOSOMAL DOMINANT 17
| DEAFNESS, AUTOSOMAL DOMINANT, 17 (DFNA17)
| EPSTEIN SYNDROME
| EPSTEIN SYNDROME (EPS)
| EPSTEIN SYNDROME, INCLUDED
| EPSTEIN SYNDROME, INCLUDED;;
| FECHTNER SYNDROME
| FECHTNER SYNDROME (FTNS)
| FECHTNER SYNDROME, INCLUDED
| FECHTNER SYNDROME, INCLUDED;;
| MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, INCLUD
| MAY-HEGGLIN ANOMALY
| MAY-HEGGLIN ANOMALY (MHA)
| MAY-HEGGLIN ANOMALY, INCLUDED
| SEBASTIAN SYNDROME
| SEBASTIAN SYNDROME (SBS)
| SEBASTIAN SYNDROME, INCLUDED
| SEBASTIAN SYNDROME, INCLUDED;;
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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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| Swiss-Prot | VAR_018308 | Disease | p.ALA95THR | May-Hegglin anomaly (MHA) | | Swiss-Prot | VAR_010795 | Disease | p.ARG1165CYS | Sebastian syndrome (SBS) | | Swiss-Prot | VAR_010792 | Disease | p.ARG702CYS | Sebastian syndrome (SBS) | | Swiss-Prot | VAR_018311 | Disease | p.ARG702HIS | Epstein syndrome (EPS) | | Swiss-Prot | VAR_010793 | Disease | p.ARG705HIS | Deafness, autosomal dominant, 17 (DFNA17) | | Swiss-Prot | VAR_018313 | Disease | p.ARG1165LEU | Sebastian syndrome (SBS) | | Swiss-Prot | VAR_018315 | Polymorphism | p.ARG1400TRP | N/A | | Swiss-Prot | VAR_010791 | Disease | p.ASN93LYS | May-Hegglin anomaly (MHA) | | Swiss-Prot | VAR_018316 | Disease | p.ASP1424ASN | Sebastian syndrome (SBS) | | Swiss-Prot | VAR_010796 | Disease | p.ASP1424HIS | May-Hegglin anomaly (MHA) | | Swiss-Prot | VAR_018317 | Disease | p.ASP1424TYR | May-Hegglin anomaly (MHA) | | Swiss-Prot | VAR_010797 | Disease | p.GLU1841LYS | Sebastian syndrome (SBS) | | dbSNP | rs2269529 | Polymorphism | p.ILE1626VAL | N/A | | Swiss-Prot | VAR_030385 | Disease | p.ILE1816VAL | Epstein syndrome (EPS) | | Swiss-Prot | VAR_018310 | Disease | p.LYS373ASN | Sebastian syndrome (SBS) | | Swiss-Prot | VAR_036006 | Polymorphism | p.LYS810ASN | N/A | | Swiss-Prot | VAR_044226 | Disease | p.LYS910GLN | Fechtner syndrome (FTNS) | | Swiss-Prot | VAR_018309 | Disease | p.SER96LEU | Epstein syndrome (EPS) | | Swiss-Prot | VAR_018312 | Disease | p.SER1114PRO | Alport syndrome, with macrothrombocytopenia (APSM) | | Swiss-Prot | VAR_010794 | Disease | p.THR1155ILE | May-Hegglin anomaly (MHA) | | Swiss-Prot | VAR_044227 | Polymorphism | p.VAL967GLU | N/A | | OMIM | 160775.0003 | Disease | p.ARG1165CYS | SEBASTIAN SYNDROME | | OMIM | 160775.0006 | Disease | p.ARG702CYS | FECHTNER SYNDROME||EPSTEIN SYNDROME, INCLUDED;;||SEBASTIAN SYNDROME, INCLUDED;;||MAY-HEGGLIN ANOMALY, INCLUDED | | OMIM | 160775.0009 | Disease | p.ARG702HIS | FECHTNER SYNDROME||EPSTEIN SYNDROME, INCLUDED | | OMIM | 160775.0008 | Disease | p.ARG705HIS | DEAFNESS, AUTOSOMAL DOMINANT 17 | | OMIM | 160775.0001 | Disease | p.ARG1933TER | MAY-HEGGLIN ANOMALY||FECHTNER SYNDROME, INCLUDED;;||SEBASTIAN SYNDROME, INCLUDED | | OMIM | 160775.0004 | Disease | p.ASN93LYS | MAY-HEGGLIN ANOMALY | | OMIM | 160775.0010 | Disease | p.ASP1424ASN | MAY-HEGGLIN ANOMALY||FECHTNER SYNDROME, INCLUDED;;||MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, INCLUD | | OMIM | 160775.0005 | Disease | p.ASP1424HIS | FECHTNER SYNDROME | | OMIM | 160775.0002 | Disease | p.GLU1841LYS | MAY-HEGGLIN ANOMALY||FECHTNER SYNDROME, INCLUDED | | OMIM | 160775.0012 | Disease | p.SER96LEU | EPSTEIN SYNDROME | | OMIM | 160775.0007 | Disease | p.THR1155ILE | MAY-HEGGLIN ANOMALY||FECHTNER SYNDROME, INCLUDED |
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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6166599
MYH9_HUMAN RecName: Full=Myosin-9; AltName: Full=Cellular myosin heavy chain, type A; AltName: Full=Myosin heavy chain 9; AltName: Full=Myosin heavy chain, non-muscle IIa; AltName: Full=Non-muscle myosin heavy chain A; Short=NMMHC-A; AltName: Full=Non-muscle myosin heavy chain IIa; Short=NMMHC II-a; Short=NMMHC-IIA
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