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Results for the Protein: NP_001177718
299829279

neutrophil cytosol factor 2 isoform 3 [Homo sapiens]

Known Diseases associated with this Protein:
  GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE,
  TYPE II
6
4
6
4
0
Tips:
 The Domains on the Default View are decided by the Domain's E-Value.

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Default View:

TPR - cd00189
TPR_1 - pfam00515
TPR - smart00028
TPR_2 - pfam07719
SH3 - smart00326
SH3_2 - pfam07653
SH3 - cd00174
SH3_1 - pfam00018
PB1_P67 - cd06406
PB1 - smart00666
PB1 - pfam00564
PB1 - cd05992
PB1_p51 - cd06411




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
SH3cd001741.2e-13163215
PB1_P67cd064061.9e-52269348
PB1cd059921.2e-08271346
PB1_p51cd064112.5e-05273348
SH3cd001742.5e-21380432
TPR_1pfam005153.3e-0671104
SH3_1pfam000183.2e-11165210
PB1pfam005641.9e-11270348
SH3_1pfam000181e-18382427
TPR_2pfam077195.9e-0571104
TPRsmart000282.6e-0671104
SH3smart003262.2e-14160216
SH3_2pfam076530.00046163215
PB1smart006661.7e-11270346
SH3smart003262.4e-21377433
SH3_2pfam076538.1e-07380432

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs13306575 Polymorphismp.ARG314TRPN/A
dbSNPrs17849502 Polymorphismp.HIS308GLNN/A
dbSNPrs13306581 Polymorphismp.THR198METN/A
dbSNPrs35937854 Polymorphismp.VAL216ALAN/A
OMIM608515.0007 Diseasep.ALA1VALGRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE,||TYPE II
OMIM608515.0008 Diseasep.ARG77GLNGRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE,||TYPE II
OMIM608515.0010 Diseasep.ARG314TRPGRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE,||TYPE II
OMIM608515.0002 Diseasep.ASP1VALGRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE,||TYPE II
OMIM608515.0009 Diseasep.GLN100TERGRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE,||TYPE II
OMIM608515.0002 Diseasep.LYS1GLUGRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE,||TYPE II



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