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Known Diseases associated with this Protein: |  4A
| CHARCOT-MARIE-TOOTH DISEASE 2K (CMT2K)
| CHARCOT-MARIE-TOOTH DISEASE 4A (CMT4A)
| CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL DOMINANT, TYPE 2K
| CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2K
| CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2K
| CHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH VOC
| CHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE (CMT2RV)
| CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, AUTOSOMAL RECESSIVE, TYPE
| CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE A
| NEUROPATHY, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE
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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_017186 | Disease | p.ARG282CYS | Charcot-Marie-Tooth disease 4A (CMT4A) | | Swiss-Prot | VAR_017184 | Disease | p.ARG120GLN | Charcot-Marie-Tooth disease 4A (CMT4A) | | Swiss-Prot | VAR_017187 | Disease | p.ARG310GLN | Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive (CMT2RV) | | Swiss-Prot | VAR_017185 | Disease | p.ARG161HIS | Charcot-Marie-Tooth disease 4A (CMT4A) | | Swiss-Prot | VAR_067087 | Disease | p.ARG282HIS | Charcot-Marie-Tooth disease 2K (CMT2K) | | Swiss-Prot | VAR_067086 | Disease | p.HIS256ARG | Charcot-Marie-Tooth disease 2K (CMT2K) | | OMIM | 606598.0017 | Disease | p.ALA156GLY | CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL DOMINANT, TYPE 2K | | OMIM | 606598.0006 | Disease | p.ARG282CYS | CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE A | | OMIM | 606598.0003 | Disease | p.ARG161HIS | CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, AUTOSOMAL RECESSIVE, TYPE||4A | | OMIM | 606598.0015 | Disease | p.ARG226SER | CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL DOMINANT, TYPE 2K | | OMIM | 606598.0009 | Disease | p.ARG120TRP | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2K | | OMIM | 606598.0014 | Disease | p.CYS240TYR | CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL DOMINANT, TYPE 2K | | OMIM | 606598.0012 | Disease | p.GLN218GLU | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2K | | OMIM | 606598.0004 | Disease | p.GLN163TER | NEUROPATHY, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE | | OMIM | 606598.0016 | Disease | p.GLY327ASP | CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE A | | OMIM | 606598.0018 | Disease | p.HIS123ARG | CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL DOMINANT, TYPE 2K | | OMIM | 606598.0011 | Disease | p.LEU239PHE | CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE A||CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2K | | OMIM | 606598.0013 | Disease | p.PRO231LEU | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2K | | OMIM | 606598.0019 | Disease | p.PRO274LEU | CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL DOMINANT, TYPE 2K | | OMIM | 606598.0002 | Disease | p.SER194TER | CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, AUTOSOMAL RECESSIVE, TYPE||4A||CHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH VOC | | OMIM | 606598.0010 | Disease | p.THR157PRO | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2K | | OMIM | 606598.0001 | Disease | p.TRP31TER | CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, AUTOSOMAL RECESSIVE, TYPE||4A |
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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269849682
GDAP1_HUMAN RecName: Full=Ganglioside-induced differentiation-associated protein 1; Short=GDAP1
22
0
16
0
6
