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Results for the Protein: P13498
311033459

CY24A_HUMAN RecName: Full=Cytochrome b-245 light chain; AltName: Full=Cytochrome b(558) alpha chain; AltName: Full=Cytochrome b558 subunit alpha; AltName: Full=Neutrophil cytochrome b 22 kDa polypeptide; AltName: Full=Superoxide-generating NADPH oxidase light chain subunit; AltName: Full=p22 phagocyte B-cytochrome; AltName: Full=p22-phox; Short=p22phox

Known Diseases associated with this Protein:
  GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-NEGATIVE
  GRANULOMATOUS DISEASE, CHRONIC, CYTOCHROME-B-NEGATIVE, AUTOSOMAL RECESSIVE (ARCGD)
18
4
7
2
13
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Cytochrom_B558a - pfam05038


Swiss-Prot Protein: P13498
Identical to: NP_000092
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Cytochrom_B558apfam050381.1e-1422195

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_060581Diseasep.ALA125THRGranulomatous disease, chronic, cytochrome-b-negative, autosomal recessive (ARCGD)
Swiss-ProtVAR_060580Diseasep.ALA124VALGranulomatous disease, chronic, cytochrome-b-negative, autosomal recessive (ARCGD)
Swiss-ProtVAR_005123Diseasep.ARG90GLNGranulomatous disease, chronic, cytochrome-b-negative, autosomal recessive (ARCGD)
Swiss-ProtVAR_060579Diseasep.ARG90TRPGranulomatous disease, chronic, cytochrome-b-negative, autosomal recessive (ARCGD)
Swiss-ProtVAR_060583Polymorphismp.GLU193ASPN/A
Swiss-ProtVAR_060582Polymorphismp.GLU171GLYN/A
Swiss-ProtVAR_060578Diseasep.GLU53VALGranulomatous disease, chronic, cytochrome-b-negative, autosomal recessive (ARCGD)
Swiss-ProtVAR_012755Diseasep.GLY24ARGGranulomatous disease, chronic, cytochrome-b-negative, autosomal recessive (ARCGD)
Swiss-ProtVAR_060576Diseasep.GLY25VALGranulomatous disease, chronic, cytochrome-b-negative, autosomal recessive (ARCGD)
Swiss-ProtVAR_005124Diseasep.HIS94ARGGranulomatous disease, chronic, cytochrome-b-negative, autosomal recessive (ARCGD)
Swiss-ProtVAR_060577Diseasep.LEU52PROGranulomatous disease, chronic, cytochrome-b-negative, autosomal recessive (ARCGD)
Swiss-ProtVAR_005126Diseasep.PRO156GLNGranulomatous disease, chronic, cytochrome-b-negative, autosomal recessive (ARCGD)
Swiss-ProtVAR_005125Diseasep.SER118ARGGranulomatous disease, chronic, cytochrome-b-negative, autosomal recessive (ARCGD)
dbSNPrs4673 Polymorphismp.TYR72HISN/A
dbSNPrs1049254 Polymorphismp.VAL174ALAN/A
OMIM608508.0012 Diseasep.ALA125THRGRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE
OMIM608508.0003 Diseasep.ARG90GLNGRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE
OMIM608508.0009 Diseasep.GLN3TERGRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE
OMIM608508.0010 Diseasep.GLY24ARGGRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE
OMIM608508.0006 Diseasep.HIS94ARGGRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE
OMIM608508.0005 Diseasep.PRO156GLNGRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE
OMIM608508.0004 Diseasep.SER118ARGGRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE



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