Home News About DMDM Database Statistics Research Publications Contact  

Results for the Protein: Q8IXQ5
116242609

KLHL7_HUMAN RecName: Full=Kelch-like protein 7

Known Diseases associated with this Protein:
  RETINITIS PIGMENTOSA 42
  RETINITIS PIGMENTOSA 42 (RP42)
6
3
3
0
6
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:

BTB - pfam00651
BTB - smart00225
BACK - smart00875
BACK - pfam07707
Kelch_1 - pfam01344
Kelch_2 - pfam07646
Kelch - smart00612


Swiss-Prot Protein: Q8IXQ5
Identical to: NP_001026880
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Kelch_1pfam013441e-08371417
Kelch_1pfam013446.6e-15419468
Kelch_1pfam013443.5e-14470515
BTBsmart002251.6e-2845134
BACKpfam077078.1e-46146246
BACKsmart008751.3e-38146247
Kelch_2pfam076461.4e-05371417
Kelchsmart006124.5e-09383430
Kelch_2pfam076469.2e-06419468
Kelchsmart006124.6e-13431481
Kelchsmart006122.2e-06482528

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_060673Diseasep.ALA153THRRetinitis pigmentosa 42 (RP42)
Swiss-ProtVAR_060674Diseasep.ALA153VALRetinitis pigmentosa 42 (RP42)
Swiss-ProtVAR_060675Polymorphismp.ASP255ASNN/A
Swiss-ProtVAR_060676Polymorphismp.HIS423TYRN/A
Swiss-ProtVAR_060677Polymorphismp.LYS472GLNN/A
Swiss-ProtVAR_060672Diseasep.SER150ASNRetinitis pigmentosa 42 (RP42)
OMIM611119.0003 Diseasep.ALA153THRRETINITIS PIGMENTOSA 42
OMIM611119.0002 Diseasep.ALA153VALRETINITIS PIGMENTOSA 42
OMIM611119.0001 Diseasep.SER150ASNRETINITIS PIGMENTOSA 42



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