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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.

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 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 ↕
BTBpfam006516.5e-3834132
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



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