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Results for the Protein: P01308
124617
INS

INS_HUMAN RecName: Full=Insulin; Contains: RecName: Full=Insulin B chain; Contains: RecName: Full=Insulin A chain; Flags: Precursor

Known Diseases associated with this Protein:
  DIABETES MELLITUS WITH HYPERINSULINEMIA
  DIABETES MELLITUS, INSULIN-DEPENDENT, 2
  DIABETES MELLITUS, INSULIN-DEPENDENT, 2 (IDDM2)
  DIABETES MELLITUS, PERMANENT NEONATAL
  DIABETES MELLITUS, PERMANENT NEONATAL (PNDM)
  HYPERPROINSULINEMIA, FAMILIAL
  HYPERPROINSULINEMIA, FAMILIAL (FHPRI)
  INSULIN CHICAGO
  INSULIN LOS ANGELES
  INSULIN WAKAYAMA
  MATURITY-ONSET DIABETES OF THE YOUNG 10 (MODY10)
  MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10
  PROINSULIN KYOTO
  PROINSULIN PROVIDENCE
38
5
16
0
27
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Default View:

IlGF_insulin_like - cd04367
IlGF - cd04368
IlGF - smart00078
Insulin - pfam00049
IlGF_like - cd00101
IlGF_insulin_bombyxi - cd04366




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
IlGF_insulin_likecd043671e-4026110
IlGFcd043681.5e-0626110
IlGF_likecd001012.9e-2430109
IlGF_insulin_bombyxicd043661.7e-1530109
Insulinpfam000491e-3828109
IlGFsmart000788.7e-3628109

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_063723Diseasep.ALA24ASPDiabetes mellitus, permanent neonatal (PNDM)
Swiss-ProtVAR_063732Diseasep.ARG55CYSDiabetes mellitus, insulin-dependent, 2 (IDDM2)
Swiss-ProtVAR_063721Diseasep.ARG6CYSMaturity-onset diabetes of the young 10 (MODY10)
Swiss-ProtVAR_063735Diseasep.ARG89CYSDiabetes mellitus, permanent neonatal (PNDM)
Swiss-ProtVAR_063729Diseasep.ARG46GLNMaturity-onset diabetes of the young 10 (MODY10)
Swiss-ProtVAR_063722Diseasep.ARG6HISMaturity-onset diabetes of the young 10 (MODY10)
Swiss-ProtVAR_003974Diseasep.ARG89HISHyperproinsulinemia, familial (FHPRI)
Swiss-ProtVAR_003975Diseasep.ARG89LEUHyperproinsulinemia, familial (FHPRI)
Swiss-ProtVAR_063728Diseasep.CYS43GLYDiabetes mellitus, permanent neonatal (PNDM)
Swiss-ProtVAR_063737Diseasep.CYS96SERDiabetes mellitus, permanent neonatal (PNDM)
Swiss-ProtVAR_063738Diseasep.CYS96TYRDiabetes mellitus, permanent neonatal (PNDM)
Swiss-ProtVAR_063725Diseasep.GLY32ARGDiabetes mellitus, permanent neonatal (PNDM)
Swiss-ProtVAR_063734Polymorphismp.GLY84ARGN/A
Swiss-ProtVAR_063736Diseasep.GLY90CYSDiabetes mellitus, permanent neonatal (PNDM)
Swiss-ProtVAR_063726Diseasep.GLY32SERDiabetes mellitus, permanent neonatal (PNDM)
Swiss-ProtVAR_063730Diseasep.GLY47VALDiabetes mellitus, permanent neonatal (PNDM)
Swiss-ProtVAR_063724Diseasep.HIS29ASPDiabetes mellitus, permanent neonatal (PNDM)
Swiss-ProtVAR_003971Diseasep.HIS34ASPHyperproinsulinemia, familial (FHPRI)
Swiss-ProtVAR_063733Polymorphismp.LEU68METN/A
Swiss-ProtVAR_063727Diseasep.LEU35PRODiabetes mellitus, permanent neonatal (PNDM)
Swiss-ProtVAR_063731Diseasep.PHE48CYSDiabetes mellitus, permanent neonatal (PNDM)
Swiss-ProtVAR_003973Polymorphismp.PHE49LEUN/A
Swiss-ProtVAR_003972Polymorphismp.PHE48SERN/A
Swiss-ProtVAR_063739Diseasep.SER101CYSDiabetes mellitus, permanent neonatal (PNDM)
Swiss-ProtVAR_063740Diseasep.TYR103CYSDiabetes mellitus, permanent neonatal (PNDM)
Swiss-ProtVAR_063741Diseasep.TYR108CYSDiabetes mellitus, permanent neonatal (PNDM)
Swiss-ProtVAR_003976Polymorphismp.VAL92LEUN/A
OMIM176730.0012 Diseasep.ALA24ASPDIABETES MELLITUS, PERMANENT NEONATAL
OMIM176730.0016 Diseasep.ARG55CYSDIABETES MELLITUS, INSULIN-DEPENDENT, 2
OMIM176730.0014 Diseasep.ARG6CYSMATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10
OMIM176730.0010 Diseasep.ARG89CYSDIABETES MELLITUS, PERMANENT NEONATAL
OMIM176730.0015 Diseasep.ARG46GLNMATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10
OMIM176730.0004 Diseasep.ARG65HISHYPERPROINSULINEMIA, FAMILIAL
OMIM176730.0006 Diseasep.ARG65LEUHYPERPROINSULINEMIA, FAMILIAL||PROINSULIN KYOTO
OMIM176730.0007 Diseasep.ARG65PROHYPERPROINSULINEMIA, FAMILIAL
OMIM176730.0009 Diseasep.CYS43GLYDIABETES MELLITUS, PERMANENT NEONATAL
OMIM176730.0011 Diseasep.CYS96TYRDIABETES MELLITUS, PERMANENT NEONATAL
OMIM176730.0008 Diseasep.GLY32SERDIABETES MELLITUS, PERMANENT NEONATAL
OMIM176730.0003 Diseasep.HIS10ASPHYPERPROINSULINEMIA, FAMILIAL||PROINSULIN PROVIDENCE
OMIM176730.0013 Diseasep.PHE48CYSDIABETES MELLITUS, PERMANENT NEONATAL
OMIM176730.0001 Diseasep.PHE25LEUINSULIN CHICAGO
OMIM176730.0002 Diseasep.PHE24SERINSULIN LOS ANGELES
OMIM176730.0005 Diseasep.VAL3LEUINSULIN WAKAYAMA||DIABETES MELLITUS WITH HYPERINSULINEMIA



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