Results for the protein: Q13751

Results for the Protein: Q13751

2497600

3914

LAMB3

NCBI, UniProt

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	Swiss-Prot Protein: Q13751 Identical to: NP_001121113, NP_000219, NP_001017402 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
EGF_Lam	cd00055	1.4e-16	315	377
EGF_Lam	cd00055	4.6e-19	378	429
EGF_Lam	cd00055	4.5e-18	430	479
EGF_Lam	cd00055	1.5e-16	480	532
EGF_Lam	cd00055	2e-11	533	579
Laminin_N	pfam00055	1.6e-38	26	248
Laminin_EGF	pfam00053	1.3e-05	250	313
Laminin_EGF	pfam00053	2.2e-15	316	376
Laminin_EGF	pfam00053	3.3e-18	379	428
Laminin_EGF	pfam00053	2e-16	431	478
Laminin_EGF	pfam00053	1.7e-08	481	531
Laminin_EGF	pfam00053	2.8e-10	534	578
LamNT	smart00136	1.1e-109	20	248
EGF_Lam	smart00180	5e-14	250	313
EGF_Lam	smart00180	4.7e-15	316	376
EGF_Lam	smart00180	4.8e-19	379	428
EGF_Lam	smart00180	2.8e-17	431	478
EGF_Lam	smart00180	5.2e-16	481	531
EGF_Lam	smart00180	6.9e-12	534	578

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs2076222	Polymorphism	p.ALA926ASP	N/A
Swiss-Prot	VAR_035820	Polymorphism	p.ARG450CYS	N/A
Swiss-Prot	VAR_037312	Polymorphism	p.ARG292LEU	N/A
dbSNP	rs59260335	Polymorphism	p.ARG848TRP	N/A
Swiss-Prot	VAR_034063	Polymorphism	p.ARG988TRP	N/A
dbSNP	rs2235542	Polymorphism	p.ASN181ASP	N/A
dbSNP	rs2229466	Polymorphism	p.ASN690SER	N/A
Swiss-Prot	VAR_004170	Disease	p.GLU210LYS	Generalized atrophic benign epidermolysis bullosa (GABEB)
Swiss-Prot	VAR_037310	Disease	p.GLY199ALA	Generalized atrophic benign epidermolysis bullosa (GABEB)
Swiss-Prot	VAR_037311	Disease	p.LYS207GLN	Generalized atrophic benign epidermolysis bullosa (GABEB)
dbSNP	rs12748250	Polymorphism	p.MET852LEU	N/A
Swiss-Prot	VAR_004171	Disease	p.PRO679LEU	Epidermolysis bullosa, junctional, Herlitz type (H-JEB)
dbSNP	rs2229468	Polymorphism	p.SER438THR	N/A
dbSNP	rs61753424	Polymorphism	p.THR908ILE	N/A
dbSNP	rs2076349	Polymorphism	p.VAL527MET	N/A
OMIM	150310.0003	Disease	p.ARG42TER	EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE\|\|EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, INCLUDED
OMIM	150310.0001	Disease	p.ARG635TER	EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE\|\|EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, INCLUDED
OMIM	150310.0007	Disease	p.GLN166TER	EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE
OMIM	150310.0009	Disease	p.GLN936TER	EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE
OMIM	150310.0006	Disease	p.GLU210LYS	EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE
OMIM	150310.0013	Disease	p.GLY199ALA	EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, SOMATIC MOSAIC\|\|REVERTANT
OMIM	150310.0015	Disease	p.LYS207GLN	EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, SOMATIC MOSAIC\|\|REVERTANT
OMIM	150310.0008	Disease	p.TRP610TER	EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE

Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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