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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 | Domain ↕ | CD Accession ↕ | E-Value ↕ | Start ↕ | End ↕ |
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Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| dbSNP | rs35793208 | Polymorphism | p.ASP180ASN | N/A | | dbSNP | rs60659894 | Polymorphism | p.CYS42TYR | N/A | | dbSNP | rs3134031 | Polymorphism | p.ILE523VAL | N/A | | OMIM | 609884.0011 | Disease | p.ARG127TER | MECKEL SYNDROME, TYPE 3||JOUBERT SYNDROME 6, INCLUDED | | OMIM | 609884.0019 | Disease | p.CYS534ARG | NEPHRONOPHTHISIS 11||JOUBERT SYNDROME 6, INCLUDED | | OMIM | 609884.0004 | Disease | p.GLN295PRO | MECKEL SYNDROME, TYPE 3 | | OMIM | 609884.0021 | Disease | p.GLY740ARG | NEPHRONOPHTHISIS 11||JOUBERT SYNDROME 6, INCLUDED | | OMIM | 609884.0018 | Disease | p.GLY740SER | NEPHRONOPHTHISIS 11 | | OMIM | 609884.0013 | Disease | p.ILE752THR | COACH SYNDROME||JOUBERT SYNDROME 6, INCLUDED | | OMIM | 609884.0023 | Disease | p.MET171THR | JOUBERT SYNDROME 6 | | OMIM | 609884.0016 | Disease | p.PHE509SER | COACH SYNDROME | | OMIM | 609884.0024 | Disease | p.PRO277LEU | JOUBERT SYNDROME 6 | | OMIM | 609884.0012 | Disease | p.SER239CYS | BARDET-BIEDL SYNDROME 14, MODIFIER OF | | OMIM | 609884.0020 | Disease | p.TRP209LEU | NEPHRONOPHTHISIS 11 | | OMIM | 609884.0006 | Disease | p.TYR432CYS | JOUBERT SYNDROME 6||COACH 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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214830753
Meckelin isoform 2 [Homo sapiens]
12
3
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3
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