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Results for the Protein: Q13751
2497600

LAMB3_HUMAN RecName: Full=Laminin subunit beta-3; AltName: Full=Epiligrin subunit bata; AltName: Full=Kalinin B1 chain; AltName: Full=Kalinin subunit beta; AltName: Full=Laminin B1k chain; AltName: Full=Laminin-5 subunit beta; AltName: Full=Nicein subunit beta; Flags: Precursor

Known Diseases associated with this Protein:
  EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE
  EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE (H-JEB)
  EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE
  EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, INCLUDED
  EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, SOMATIC MOSAIC
  GENERALIZED ATROPHIC BENIGN EPIDERMOLYSIS BULLOSA (GABEB)
  REVERTANT
12
11
8
8
7
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Default View:

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




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
EGF_Lamcd000555.5e-16249314
EGF_Lamcd000551.4e-16315377
EGF_Lamcd000554.6e-19378429
EGF_Lamcd000554.5e-18430479
EGF_Lamcd000551.5e-16480532
EGF_Lamcd000552e-11533579
Laminin_Npfam000551.6e-3826248
Laminin_EGFpfam000531.3e-05250313
Laminin_EGFpfam000532.2e-15316376
Laminin_EGFpfam000533.3e-18379428
Laminin_EGFpfam000532e-16431478
Laminin_EGFpfam000531.7e-08481531
Laminin_EGFpfam000532.8e-10534578
LamNTsmart001361.1e-10920248
EGF_Lamsmart001805e-14250313
EGF_Lamsmart001804.7e-15316376
EGF_Lamsmart001804.8e-19379428
EGF_Lamsmart001802.8e-17431478
EGF_Lamsmart001805.2e-16481531
EGF_Lamsmart001806.9e-12534578

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs2076222 Polymorphismp.ALA926ASPN/A
Swiss-ProtVAR_035820Polymorphismp.ARG450CYSN/A
Swiss-ProtVAR_037312Polymorphismp.ARG292LEUN/A
dbSNPrs59260335 Polymorphismp.ARG848TRPN/A
Swiss-ProtVAR_034063Polymorphismp.ARG988TRPN/A
dbSNPrs2235542 Polymorphismp.ASN181ASPN/A
dbSNPrs2229466 Polymorphismp.ASN690SERN/A
Swiss-ProtVAR_004170Diseasep.GLU210LYSGeneralized atrophic benign epidermolysis bullosa (GABEB)
Swiss-ProtVAR_037310Diseasep.GLY199ALAGeneralized atrophic benign epidermolysis bullosa (GABEB)
Swiss-ProtVAR_037311Diseasep.LYS207GLNGeneralized atrophic benign epidermolysis bullosa (GABEB)
dbSNPrs12748250 Polymorphismp.MET852LEUN/A
Swiss-ProtVAR_004171Diseasep.PRO679LEUEpidermolysis bullosa, junctional, Herlitz type (H-JEB)
dbSNPrs2229468 Polymorphismp.SER438THRN/A
dbSNPrs61753424 Polymorphismp.THR908ILEN/A
dbSNPrs2076349 Polymorphismp.VAL527METN/A
OMIM150310.0003 Diseasep.ARG42TEREPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE||EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, INCLUDED
OMIM150310.0001 Diseasep.ARG635TEREPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE||EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, INCLUDED
OMIM150310.0007 Diseasep.GLN166TEREPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE
OMIM150310.0009 Diseasep.GLN936TEREPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE
OMIM150310.0006 Diseasep.GLU210LYSEPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE
OMIM150310.0013 Diseasep.GLY199ALAEPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, SOMATIC MOSAIC||REVERTANT
OMIM150310.0015 Diseasep.LYS207GLNEPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, SOMATIC MOSAIC||REVERTANT
OMIM150310.0008 Diseasep.TRP610TEREPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE



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