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Known Diseases associated with this Protein: |  CHARCOT-MARIE-TOOTH DISEASE 2A2 (CMT2A2)
| CHARCOT-MARIE-TOOTH DISEASE 6 (CMT6)
| CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2
| CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2, AUTOSOMAL RECESSIVE
| CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2, AUTOSOMAL RECESSIVE,
| CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2, INCLUDED
| HEREDITARY MOTOR AND SENSORY NEUROPATHY VI
| HEREDITARY MOTOR AND SENSORY NEUROPATHY VI, INCLUDED
| INCL
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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_018609 | Disease | p.ARG94GLN | Charcot-Marie-Tooth disease 2A2 (CMT2A2) | | Swiss-Prot | VAR_018611 | Disease | p.ARG280HIS | Charcot-Marie-Tooth disease 2A2 (CMT2A2) | | Swiss-Prot | VAR_029880 | Disease | p.ARG364TRP | Charcot-Marie-Tooth disease 6 (CMT6) | | Swiss-Prot | VAR_029876 | Disease | p.ARG94TRP | Charcot-Marie-Tooth disease 6 (CMT6) | | Swiss-Prot | VAR_029878 | Disease | p.GLN276ARG | Charcot-Marie-Tooth disease 6 (CMT6) | | Swiss-Prot | VAR_067089 | Disease | p.GLU744MET | Charcot-Marie-Tooth disease 2A2 (CMT2A2) | | Swiss-Prot | VAR_029879 | Disease | p.HIS361TYR | Charcot-Marie-Tooth disease 6 (CMT6) | | Swiss-Prot | VAR_018608 | Disease | p.LEU76PRO | Charcot-Marie-Tooth disease 2A2 (CMT2A2) | | Swiss-Prot | VAR_067088 | Disease | p.LEU233VAL | Charcot-Marie-Tooth disease 2A2 (CMT2A2) | | Swiss-Prot | VAR_022464 | Disease | p.LYS357ASN | Charcot-Marie-Tooth disease 2A2 (CMT2A2) | | Swiss-Prot | VAR_018610 | Disease | p.PRO251ALA | Charcot-Marie-Tooth disease 2A2 (CMT2A2) | | Swiss-Prot | VAR_029877 | Disease | p.THR206ILE | Charcot-Marie-Tooth disease 6 (CMT6) | | Swiss-Prot | VAR_018612 | Disease | p.TRP740SER | Charcot-Marie-Tooth disease 2A2 (CMT2A2) | | Swiss-Prot | VAR_018607 | Disease | p.VAL69PHE | Charcot-Marie-Tooth disease 2A2 (CMT2A2) | | OMIM | 608507.0001 | Disease | p.ARG94GLN | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2 | | OMIM | 608507.0004 | Disease | p.ARG280HIS | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2 | | OMIM | 608507.0015 | Disease | p.ARG468HIS | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2 | | OMIM | 608507.0014 | Disease | p.ARG104TRP | HEREDITARY MOTOR AND SENSORY NEUROPATHY VI||CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2, INCLUDED | | OMIM | 608507.0011 | Disease | p.ARG364TRP | HEREDITARY MOTOR AND SENSORY NEUROPATHY VI||CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2, INCLUDED | | OMIM | 608507.0013 | Disease | p.ARG707TRP | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2 | | OMIM | 608507.0009 | Disease | p.ARG94TRP | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2||HEREDITARY MOTOR AND SENSORY NEUROPATHY VI, INCLUDED | | OMIM | 608507.0010 | Disease | p.GLN276ARG | HEREDITARY MOTOR AND SENSORY NEUROPATHY VI | | OMIM | 608507.0008 | Disease | p.HIS165ASP | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2 | | OMIM | 608507.0003 | Disease | p.LEU76PRO | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2 | | OMIM | 608507.0007 | Disease | p.LYS357ASN | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2 | | OMIM | 608507.0017 | Disease | p.PHE216SER | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2, AUTOSOMAL RECESSIVE | | OMIM | 608507.0005 | Disease | p.PRO251ALA | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2 | | OMIM | 608507.0012 | Disease | p.THR206ILE | HEREDITARY MOTOR AND SENSORY NEUROPATHY VI | | OMIM | 608507.0019 | Disease | p.THR362MET | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2||CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2, AUTOSOMAL RECESSIVE,||INCL | | OMIM | 608507.0002 | Disease | p.TRP740SER | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2 | | OMIM | 608507.0006 | Disease | p.VAL69PHE | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2 |
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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47605777
MFN2_HUMAN RecName: Full=Mitofusin-2; AltName: Full=Transmembrane GTPase MFN2
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