Home News About DMDM Database Statistics Research Publications Contact  

Results for the Protein: NP_001107803
167466160

H(+)/Cl(-) exchange transporter 7 isoform b [Homo sapiens]

Known Diseases associated with this Protein:
  OSTEOPETROSIS, AUTOSOMAL DOMINANT 2
  OSTEOPETROSIS, AUTOSOMAL RECESSIVE 4
5
1
5
1
0
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.



Default View:

ClC_6_like - cd03685
EriC - COG0038
ClC_1_like - cd03683
EriC - cd01031
ClC_3_like - cd03684
ClC_euk - cd01036
Voltage_gated_ClC - cd00400
EriC_like - cd01034
Voltage_CLC - pfam00654
COG0517 - COG0517
CBS_pair_SpoIVFB_Eri - cd04612
CBS_pair_EriC_assoc_ - cd04591
CBS_pair - cd02205
CBS - smart00116
CBS - pfam00571




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
EriCCOG00382.9e-3182598
ClC_1_likecd036831.8e-20102592
EriCcd010315.1e-11109583
Voltage_gated_ClCcd004002.8e-20110571
ClC_eukcd010362.8e-114110579
ClC_3_likecd036842.5e-52110590
EriC_likecd010341.4e-10114579
COG0517COG05171e-07603764
CBS_pair_SpoIVFB_Ericd046125.2e-05604766
CBS_pair_EriC_assoc_cd045911.5e-57608766
CBS_paircd022052e-13609766
Voltage_CLCpfam006541.3e-95161572
CBSpfam005714.4e-15713769
CBSsmart001166.4e-08610665
CBSsmart001163.2e-13720768

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs12926089 Polymorphismp.VAL394METN/A
OMIM602727.0002 Diseasep.ARG738GLNOSTEOPETROSIS, AUTOSOMAL RECESSIVE 4
OMIM602727.0004 Diseasep.ARG743TRPOSTEOPETROSIS, AUTOSOMAL DOMINANT 2
OMIM602727.0001 Diseasep.GLN531TEROSTEOPETROSIS, AUTOSOMAL RECESSIVE 4
OMIM602727.0006 Diseasep.ILE237PHEOSTEOPETROSIS, AUTOSOMAL RECESSIVE 4
OMIM602727.0003 Diseasep.LEU742PROOSTEOPETROSIS, AUTOSOMAL RECESSIVE 4



   |   1000 Hilltop Circle, Baltimore, MD 21250   |   Department of Biological Sciences   |   Phone: 410-455-2258