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Results for the Protein: Q13608
12644408

PEX6_HUMAN RecName: Full=Peroxisome assembly factor 2; Short=PAF-2; AltName: Full=Peroxin-6; AltName: Full=Peroxisomal biogenesis factor 6; AltName: Full=Peroxisomal-type ATPase 1

Known Diseases associated with this Protein:
  PEROXISOME BIOGENESIS DISORDER 4A (PBD4A)
  PEROXISOME BIOGENESIS DISORDER 4B
  PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 4 (PBD-CG4)
7
6
1
2
10
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Default View:

AAA - cd00009
SpoVK - COG0464
AAA - smart00382
NACHT - pfam05729
AAA - pfam00004
HflB - COG0465
RPT1 - COG1222
COG1223 - COG1223


Swiss-Prot Protein: Q13608
Identical to: NP_000278
   Default View:









Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
AAAcd000098.1e-06436595
SpoVKCOG04644.1e-115446976
HflBCOG04652.4e-09561979
RPT1COG12228.7e-33566971
COG1223COG12236.5e-13643978
AAAcd000091.5e-42708872
AAApfam000047.1e-24466595
AAApfam000042.1e-72740872
AAAsmart003827.8e-07462597
NACHTpfam057290.00071464612
AAAsmart003823.8e-24736874

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_058381Polymorphismp.ALA79PRON/A
Swiss-ProtVAR_058387Polymorphismp.ALA924SERN/A
dbSNPrs35830695 Polymorphismp.ALA809VALN/A
Swiss-ProtVAR_058383Polymorphismp.ARG601GLNN/A
Swiss-ProtVAR_007918Diseasep.ARG812GLNPeroxisome biogenesis disorder 4A (PBD4A)
Swiss-ProtVAR_058385Diseasep.ARG860GLNPeroxisome biogenesis disorder complementation group 4 (PBD-CG4)
Swiss-ProtVAR_007919Diseasep.ARG812TRPPeroxisome biogenesis disorder 4A (PBD4A)
Swiss-ProtVAR_058386Diseasep.ARG860TRPPeroxisome biogenesis disorder complementation group 4 (PBD-CG4)
Swiss-ProtVAR_058384Diseasep.ASN849THRPeroxisome biogenesis disorder complementation group 4 (PBD-CG4)
dbSNPrs1129187 Polymorphismp.PRO939GLNN/A
Swiss-ProtVAR_058382Diseasep.PRO274LEUPeroxisome biogenesis disorder complementation group 4 (PBD-CG4)
Swiss-ProtVAR_048115Polymorphismp.VAL882ILEN/A
OMIM601498.0009 Diseasep.LEU534PROPEROXISOME BIOGENESIS DISORDER 4B



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