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Results for the Protein: P55268
156630892

LAMB2_HUMAN RecName: Full=Laminin subunit beta-2; AltName: Full=Laminin B1s chain; AltName: Full=Laminin-11 subunit beta; AltName: Full=Laminin-14 subunit beta; AltName: Full=Laminin-15 subunit beta; AltName: Full=Laminin-3 subunit beta; AltName: Full=Laminin-4 subunit beta; AltName: Full=Laminin-7 subunit beta; AltName: Full=Laminin-9 subunit beta; AltName: Full=S-laminin subunit beta; Short=S-LAM beta; Flags: Precursor

Known Diseases associated with this Protein:
  NEPHROTIC SYNDROME 5 WITH OR WITHOUT OCULAR ABNORMALITIES (NPHS5)
  NEPHROTIC SYNDROME, TYPE 5, WITH OCULAR ABNORMALITIES
  NEPHROTIC SYNDROME, TYPE 5, WITHOUT OCULAR ABNORMALITIES
  PIERSON SYNDROME
  PIERSON SYNDROME (PIERSS)
14
3
8
3
6
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Default View:

LamNT - smart00136
Laminin_N - pfam00055
EGF_Lam - cd00055
Laminin_EGF - pfam00053
EGF_Lam - smart00180


Swiss-Prot Protein: P55268
Identical to: NP_002283
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
EGF_Lamcd000551.7e-15282345
EGF_Lamcd000555.5e-16346408
EGF_Lamcd000551.4e-18409468
EGF_Lamcd000555.2e-15469520
EGF_Lamcd000557e-14521567
EGF_Lamcd000554e-22782829
EGF_Lamcd000551.3e-14830875
EGF_Lamcd000551.4e-14876925
EGF_Lamcd000556.7e-13926984
EGF_Lamcd000551.4e-149851036
EGF_Lamcd000557.3e-1910371093
EGF_Lamcd000555.6e-1310941141
EGF_Lamcd000551.8e-1211421188
Laminin_Npfam000555.6e-16447281
Laminin_EGFpfam000531.4e-07283344
Laminin_EGFpfam000535e-21347407
Laminin_EGFpfam000539.9e-19410467
Laminin_EGFpfam000533.3e-14470519
Laminin_EGFpfam000531.8e-06522566
Laminin_EGFpfam000539.3e-22783828
Laminin_EGFpfam000531.3e-12831874
Laminin_EGFpfam000532.2e-13877924
Laminin_EGFpfam000533.1e-07927983
Laminin_EGFpfam000531.2e-149861035
Laminin_EGFpfam000532.9e-1610381092
Laminin_EGFpfam000537.8e-1310951140
Laminin_EGFpfam000532.3e-1311431190
LamNTsmart001362.3e-10141281
EGF_Lamsmart001804.7e-14283344
EGF_Lamsmart001801.9e-16347407
EGF_Lamsmart001801.5e-17410467
EGF_Lamsmart001808.8e-14470519
EGF_Lamsmart001803.2e-16522579
EGF_Lamsmart001801e-20783828
EGF_Lamsmart001801.3e-13831874
EGF_Lamsmart001805.2e-12877924
EGF_Lamsmart001801.4e-14927983
EGF_Lamsmart001802.3e-159861035
EGF_Lamsmart001807.5e-1910381092
EGF_Lamsmart001801.4e-1110951140
EGF_Lamsmart001801.2e-1211431187

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_031968Diseasep.ARG246GLNPierson syndrome (PIERSS)
dbSNPrs61729458 Polymorphismp.ARG1592TRPN/A
Swiss-ProtVAR_031969Diseasep.ARG246TRPPierson syndrome (PIERSS)
Swiss-ProtVAR_031972Diseasep.ASN1380LYSPierson syndrome (PIERSS)
Swiss-ProtVAR_031970Diseasep.CYS321ARGPierson syndrome (PIERSS)
dbSNPrs34759087 Polymorphismp.GLU987LYSN/A
dbSNPrs35713889 Polymorphismp.GLY914ARGN/A
Swiss-ProtVAR_066492Diseasep.HIS147ARGNephrotic syndrome 5 with or without ocular abnormalities (NPHS5)
Swiss-ProtVAR_031973Diseasep.LEU1393PHEPierson syndrome (PIERSS)
OMIM150325.0006 Diseasep.ARG246GLNNEPHROTIC SYNDROME, TYPE 5, WITHOUT OCULAR ABNORMALITIES
OMIM150325.0002 Diseasep.ARG246TRPPIERSON SYNDROME
OMIM150325.0007 Diseasep.ASN1380LYSNEPHROTIC SYNDROME, TYPE 5, WITH OCULAR ABNORMALITIES
OMIM150325.0008 Diseasep.CYS321ARGNEPHROTIC SYNDROME, TYPE 5, WITH OCULAR ABNORMALITIES
OMIM150325.0005 Diseasep.CYS374TERPIERSON SYNDROME
OMIM150325.0011 Diseasep.HIS147ARGNEPHROTIC SYNDROME, TYPE 5, WITH OCULAR ABNORMALITIES
OMIM150325.0007 Diseasep.LEU1393PHENEPHROTIC SYNDROME, TYPE 5, WITH OCULAR ABNORMALITIES
OMIM150325.0004 Diseasep.TYR689TERPIERSON SYNDROME



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