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Known Diseases associated with this Protein: |  DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT,
| DIGENIC
| ELECTROLYTE IMBALANCE
| SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, MENTAL RETARDATION, AND
| SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, MENTAL RETARDATION, AND ELECTROLYTE IMBALANCE (SESAMES)
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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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| Swiss-Prot | VAR_063063 | Disease | p.ALA167VAL | Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SESAMES) | | dbSNP | rs1130183 | Polymorphism | p.ARG271CYS | N/A | | Swiss-Prot | VAR_063064 | Disease | p.ARG297CYS | Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SESAMES) | | Swiss-Prot | VAR_020339 | Polymorphism | p.ARG271HIS | N/A | | Swiss-Prot | VAR_063059 | Disease | p.ARG65PRO | Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SESAMES) | | Swiss-Prot | VAR_063061 | Disease | p.CYS140ARG | Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SESAMES) | | Swiss-Prot | VAR_063060 | Disease | p.GLY77ARG | Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SESAMES) | | Swiss-Prot | VAR_063062 | Disease | p.THR164ILE | Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SESAMES) | | OMIM | 602208.0005 | Disease | p.ALA167VAL | SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, MENTAL RETARDATION, AND||ELECTROLYTE IMBALANCE | | OMIM | 602208.0006 | Disease | p.ARG297CYS | SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, MENTAL RETARDATION, AND||ELECTROLYTE IMBALANCE | | OMIM | 602208.0009 | Disease | p.ARG348CYS | DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT,||DIGENIC | | OMIM | 602208.0010 | Disease | p.ARG65CYS | SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, MENTAL RETARDATION, AND||ELECTROLYTE IMBALANCE | | OMIM | 602208.0013 | Disease | p.ARG175GLN | SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, MENTAL RETARDATION, AND||ELECTROLYTE IMBALANCE | | OMIM | 602208.0008 | Disease | p.ARG194HIS | DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT,||DIGENIC | | OMIM | 602208.0001 | Disease | p.ARG65PRO | SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, MENTAL RETARDATION, AND||ELECTROLYTE IMBALANCE | | OMIM | 602208.0002 | Disease | p.ARG199TER | SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, MENTAL RETARDATION, AND||ELECTROLYTE IMBALANCE | | OMIM | 602208.0003 | Disease | p.CYS140ARG | SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, MENTAL RETARDATION, AND||ELECTROLYTE IMBALANCE | | OMIM | 602208.0007 | Disease | p.GLY77ARG | SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, MENTAL RETARDATION, AND||ELECTROLYTE IMBALANCE | | OMIM | 602208.0011 | Disease | p.PHE75LEU | SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, MENTAL RETARDATION, AND||ELECTROLYTE IMBALANCE | | OMIM | 602208.0004 | Disease | p.THR164ILE | SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, MENTAL RETARDATION, AND||ELECTROLYTE IMBALANCE |
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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2493605
IRK10_HUMAN RecName: Full=ATP-sensitive inward rectifier potassium channel 10; AltName: Full=ATP-dependent inwardly rectifying potassium channel Kir4.1; AltName: Full=Inward rectifier K(+) channel Kir1.2; AltName: Full=Potassium channel, inwardly rectifying subfamily J member 10
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