Results for the protein: Q13753

Results for the Protein: Q13753

90185107

3918

LAMC2

NCBI, UniProt

LAMC2_HUMAN RecName: Full=Laminin subunit gamma-2; AltName: Full=Cell-scattering factor 140 kDa subunit; Short=CSF 140 kDa subunit; AltName: Full=Epiligrin subunit gamma; AltName: Full=Kalinin subunit gamma; AltName: Full=Kalinin/nicein/epiligrin 100 kDa subunit; AltName: Full=Ladsin 140 kDa subunit; AltName: Full=Laminin B2t chain; AltName: Full=Laminin-5 subunit gamma; AltName: Full=Large adhesive scatter factor 140 kDa subunit; AltName: Full=Nicein subunit gamma; Flags: Precursor

Known Diseases associated with this Protein:
EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE
EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE

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5

3

Tips:

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Default View: EGF_Lam - cd00055 Laminin_EGF - pfam00053 EGF_Lam - smart00180 LamB - smart00281 Laminin_B - pfam00052	Swiss-Prot Protein: Q13753 Identical to: NP_005553 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
EGF_Lam	cd00055	6e-18	83	129
EGF_Lam	cd00055	7.6e-14	138	185
EGF_Lam	cd00055	4.5e-11	461	515
EGF_Lam	cd00055	9.1e-19	516	571
EGF_Lam	cd00055	0.00011	572	623
Laminin_EGF	pfam00053	1.6e-07	28	81
Laminin_EGF	pfam00053	3.5e-17	84	128
Laminin_EGF	pfam00053	1.3e-13	139	184
Laminin_B	pfam00052	5.1e-35	250	380
Laminin_EGF	pfam00053	2.2e-05	462	514
Laminin_EGF	pfam00053	2.1e-16	517	570
EGF_Lam	smart00180	8.8e-11	28	81
EGF_Lam	smart00180	1.8e-15	84	128
EGF_Lam	smart00180	7.4e-15	139	184
LamB	smart00281	1.7e-51	245	370
EGF_Lam	smart00180	7e-09	462	514
EGF_Lam	smart00180	6.4e-16	517	570
EGF_Lam	smart00180	0.00039	573	612

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs12065473	Polymorphism	p.ALA111PRO	N/A
Swiss-Prot	VAR_050082	Polymorphism	p.ARG115GLN	N/A
dbSNP	rs2296306	Polymorphism	p.ASP247GLU	N/A
Swiss-Prot	VAR_050084	Polymorphism	p.ASP136VAL	N/A
dbSNP	rs62640910	Polymorphism	p.LEU679PHE	N/A
Swiss-Prot	VAR_050085	Polymorphism	p.SER608ILE	N/A
dbSNP	rs2296303	Polymorphism	p.SER733THR	N/A
dbSNP	rs11586699	Polymorphism	p.THR124MET	N/A
OMIM	150292.0006	Disease	p.ARG245TER	EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE
OMIM	150292.0002	Disease	p.ARG95TER	EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE
OMIM	150292.0004	Disease	p.CYS553TER	EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE
OMIM	150292.0003	Disease	p.TYR355TER	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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