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Results for the Protein: P16144
317373584

ITB4_HUMAN RecName: Full=Integrin beta-4; AltName: Full=GP150; AltName: CD_antigen=CD104; Flags: Precursor

Known Diseases associated with this Protein:
  EPIDERMOLYSIS BULLOSA LETALIS, WITH PYLORIC ATRESIA (EB-PA)
  EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE
  EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA
  GENERALIZED ATROPHIC BENIGN EPIDERMOLYSIS BULLOSA (GABEB)
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20
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Default View:

PSI - smart00423
INB - smart00187
Integrin_beta - pfam00362
EGF_2 - pfam07974
Integrin_B_tail - pfam07965
Calx-beta - pfam03160
Calx_beta - smart00237
FN3 - smart00060
FN3 - cd00063
fn3 - pfam00041


Swiss-Prot Protein: P16144
Identical to: NP_000204
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
FN3cd000636e-1611271215
FN3cd000639.4e-1612201318
FN3cd000632.3e-2215281618
FN3cd000632.6e-2016411734
Integrin_betapfam003621.6e-20737455
Calx-betapfam031602.4e-329891084
fn3pfam000411.9e-1911281208
fn3pfam000411.6e-1612211310
fn3pfam000411.8e-2515291612
fn3pfam000411.1e-2316421728
PSIsmart004236e-053073
INBsmart001874.4e-24237454
EGF_2pfam079740.00019543573
Integrin_B_tailpfam079656.4e-28626711
Calx_betasmart002371.5e-339911084
FN3smart000601.1e-1111271205
FN3smart000602.1e-1312201307
FN3smart000608.6e-1915281609
FN3smart000604.6e-1716411725

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_004009Diseasep.ARG252CYSEpidermolysis bullosa letalis, with pyloric atresia (EB-PA)
Swiss-ProtVAR_011295Diseasep.ARG283CYSEpidermolysis bullosa letalis, with pyloric atresia (EB-PA)
Swiss-ProtVAR_011301Diseasep.ARG1225HISEpidermolysis bullosa letalis, with pyloric atresia (EB-PA)
Swiss-ProtVAR_011292Polymorphismp.ARG98HISN/A
Swiss-ProtVAR_011298Polymorphismp.ARG844LEUN/A
Swiss-ProtVAR_004011Diseasep.ARG1281TRPEpidermolysis bullosa letalis, with pyloric atresia (EB-PA)
Swiss-ProtVAR_011293Diseasep.ASP131TYREpidermolysis bullosa letalis, with pyloric atresia (EB-PA)
Swiss-ProtVAR_010652Diseasep.CYS38ARGEpidermolysis bullosa letalis, with pyloric atresia (EB-PA)
Swiss-ProtVAR_004010Diseasep.CYS562ARGEpidermolysis bullosa letalis, with pyloric atresia (EB-PA)
Swiss-ProtVAR_004008Diseasep.CYS245GLYEpidermolysis bullosa letalis, with pyloric atresia (EB-PA)
Swiss-ProtVAR_004006Diseasep.CYS61TYREpidermolysis bullosa letalis, with pyloric atresia (EB-PA)
Swiss-ProtVAR_027803Polymorphismp.GLN478HISN/A
Swiss-ProtVAR_011294Diseasep.GLY273ASPEpidermolysis bullosa letalis, with pyloric atresia (EB-PA)
Swiss-ProtVAR_011299Diseasep.GLY931ASPGeneralized atrophic benign epidermolysis bullosa (GABEB)
Swiss-ProtVAR_011300Polymorphismp.HIS1216GLNN/A
Swiss-ProtVAR_004007Diseasep.LEU156PROEpidermolysis bullosa letalis, with pyloric atresia (EB-PA)
Swiss-ProtVAR_027804Polymorphismp.LEU1779PRON/A
Swiss-ProtVAR_011297Diseasep.LEU336PROEpidermolysis bullosa letalis, with pyloric atresia (EB-PA)
Swiss-ProtVAR_055971Polymorphismp.THR1764SERN/A
Swiss-ProtVAR_011296Diseasep.VAL325ASPEpidermolysis bullosa letalis, with pyloric atresia (EB-PA)
OMIM147557.0015 Diseasep.ARG1225HISEPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA
OMIM147557.0004 Diseasep.ARG554TEREPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA
OMIM147557.0014 Diseasep.ARG1281TRPEPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA
OMIM147557.0009 Diseasep.CYS38ARGEPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA
OMIM147557.0006 Diseasep.CYS562ARGEPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA
OMIM147557.0005 Diseasep.CYS61TYREPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA
OMIM147557.0012 Diseasep.GLY931ASPEPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE
OMIM147557.0003 Diseasep.LEU156PROEPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA
OMIM147557.0008 Diseasep.TRP1478TEREPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA



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