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Results for the Protein: Q99650
74724833

OSMR_HUMAN RecName: Full=Oncostatin-M-specific receptor subunit beta; AltName: Full=Interleukin-31 receptor subunit beta; Short=IL-31 receptor subunit beta; Short=IL-31R subunit beta; Short=IL-31R-beta; Short=IL-31RB; Flags: Precursor

Known Diseases associated with this Protein:
  AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 1
  AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 1 (PLCA1)
10
8
5
6
7
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FN3 - cd00063
FN3 - smart00060


Swiss-Prot Protein: Q99650
Identical to: NP_003990
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
FN3cd000632.6e-06333425
FN3cd000630.00054434524
FN3cd000634.9e-11625733
FN3smart000608.2e-09622723

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs2278329 Polymorphismp.ASP553ASNN/A
Swiss-ProtVAR_065810Diseasep.ASP647VALAmyloidosis, primary localized cutaneous, 1 (PLCA1)
dbSNPrs35727755 Polymorphismp.GLU388LYSN/A
dbSNPrs10941412 Polymorphismp.GLU527LYSN/A
Swiss-ProtVAR_043513Diseasep.GLY618ALAAmyloidosis, primary localized cutaneous, 1 (PLCA1)
Swiss-ProtVAR_028972Polymorphismp.GLY210TRPN/A
dbSNPrs34675408 Polymorphismp.HIS187GLNN/A
Swiss-ProtVAR_043514Diseasep.ILE691THRAmyloidosis, primary localized cutaneous, 1 (PLCA1)
dbSNPrs61747090 Polymorphismp.LEU545VALN/A
Swiss-ProtVAR_065812Diseasep.LYS697THRAmyloidosis, primary localized cutaneous, 1 (PLCA1)
Swiss-ProtVAR_043515Polymorphismp.PRO959ARGN/A
Swiss-ProtVAR_065811Diseasep.PRO694LEUAmyloidosis, primary localized cutaneous, 1 (PLCA1)
dbSNPrs3749737 Polymorphismp.PRO936SERN/A
OMIM601743.0003 Diseasep.ASP647VALAMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 1
OMIM601743.0002 Diseasep.GLY618ALAAMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 1
OMIM601743.0001 Diseasep.ILE691THRAMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 1
OMIM601743.0005 Diseasep.LYS697THRAMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 1
OMIM601743.0004 Diseasep.PRO694LEUAMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 1



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