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Known Diseases associated with this Protein: |  BARTTER SYNDROME, ANTENATAL, TYPE 2
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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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| OMIM | 600359.0007 | Disease | p.ALA179THR | BARTTER SYNDROME, ANTENATAL, TYPE 2 | | OMIM | 600359.0005 | Disease | p.ALA176VAL | BARTTER SYNDROME, ANTENATAL, TYPE 2 | | OMIM | 600359.0009 | Disease | p.ASP89HIS | BARTTER SYNDROME, ANTENATAL, TYPE 2 | | OMIM | 600359.0008 | Disease | p.GLY148GLU | BARTTER SYNDROME, ANTENATAL, TYPE 2 | | OMIM | 600359.0010 | Disease | p.LYS105ASN | BARTTER SYNDROME, ANTENATAL, TYPE 2 | | OMIM | 600359.0006 | Disease | p.MET319THR | BARTTER SYNDROME, ANTENATAL, TYPE 2 | | OMIM | 600359.0003 | Disease | p.SER181ARG | BARTTER SYNDROME, ANTENATAL, TYPE 2 | | OMIM | 600359.0004 | Disease | p.TRP39TER | BARTTER SYNDROME, ANTENATAL, TYPE 2 | | OMIM | 600359.0001 | Disease | p.TYR41TER | BARTTER SYNDROME, ANTENATAL, TYPE 2 |
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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24497467
ATP-sensitive inward rectifier potassium channel 1 isoform b [Homo sapiens]
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