Results for the protein: P55268

Results for the Protein: P55268

156630892

3913

LAMB2

NCBI, UniProt

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

Tips:

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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_Lam	cd00055	5.5e-16	346	408
EGF_Lam	cd00055	1.4e-18	409	468
EGF_Lam	cd00055	5.2e-15	469	520
EGF_Lam	cd00055	7e-14	521	567
EGF_Lam	cd00055	4e-22	782	829
EGF_Lam	cd00055	1.3e-14	830	875
EGF_Lam	cd00055	1.4e-14	876	925
EGF_Lam	cd00055	6.7e-13	926	984
EGF_Lam	cd00055	1.4e-14	985	1036
EGF_Lam	cd00055	7.3e-19	1037	1093
EGF_Lam	cd00055	5.6e-13	1094	1141
EGF_Lam	cd00055	1.8e-12	1142	1188
Laminin_N	pfam00055	5.6e-164	47	281
Laminin_EGF	pfam00053	1.4e-07	283	344
Laminin_EGF	pfam00053	5e-21	347	407
Laminin_EGF	pfam00053	9.9e-19	410	467
Laminin_EGF	pfam00053	3.3e-14	470	519
Laminin_EGF	pfam00053	1.8e-06	522	566
Laminin_EGF	pfam00053	9.3e-22	783	828
Laminin_EGF	pfam00053	1.3e-12	831	874
Laminin_EGF	pfam00053	2.2e-13	877	924
Laminin_EGF	pfam00053	3.1e-07	927	983
Laminin_EGF	pfam00053	1.2e-14	986	1035
Laminin_EGF	pfam00053	2.9e-16	1038	1092
Laminin_EGF	pfam00053	7.8e-13	1095	1140
Laminin_EGF	pfam00053	2.3e-13	1143	1190
LamNT	smart00136	2.3e-101	41	281
EGF_Lam	smart00180	4.7e-14	283	344
EGF_Lam	smart00180	1.9e-16	347	407
EGF_Lam	smart00180	1.5e-17	410	467
EGF_Lam	smart00180	8.8e-14	470	519
EGF_Lam	smart00180	3.2e-16	522	579
EGF_Lam	smart00180	1e-20	783	828
EGF_Lam	smart00180	1.3e-13	831	874
EGF_Lam	smart00180	5.2e-12	877	924
EGF_Lam	smart00180	1.4e-14	927	983
EGF_Lam	smart00180	2.3e-15	986	1035
EGF_Lam	smart00180	7.5e-19	1038	1092
EGF_Lam	smart00180	1.4e-11	1095	1140
EGF_Lam	smart00180	1.2e-12	1143	1187

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_031968	Disease	p.ARG246GLN	Pierson syndrome (PIERSS)
dbSNP	rs61729458	Polymorphism	p.ARG1592TRP	N/A
Swiss-Prot	VAR_031969	Disease	p.ARG246TRP	Pierson syndrome (PIERSS)
Swiss-Prot	VAR_031972	Disease	p.ASN1380LYS	Pierson syndrome (PIERSS)
Swiss-Prot	VAR_031970	Disease	p.CYS321ARG	Pierson syndrome (PIERSS)
dbSNP	rs34759087	Polymorphism	p.GLU987LYS	N/A
dbSNP	rs35713889	Polymorphism	p.GLY914ARG	N/A
Swiss-Prot	VAR_066492	Disease	p.HIS147ARG	Nephrotic syndrome 5 with or without ocular abnormalities (NPHS5)
Swiss-Prot	VAR_031973	Disease	p.LEU1393PHE	Pierson syndrome (PIERSS)
OMIM	150325.0006	Disease	p.ARG246GLN	NEPHROTIC SYNDROME, TYPE 5, WITHOUT OCULAR ABNORMALITIES
OMIM	150325.0002	Disease	p.ARG246TRP	PIERSON SYNDROME
OMIM	150325.0007	Disease	p.ASN1380LYS	NEPHROTIC SYNDROME, TYPE 5, WITH OCULAR ABNORMALITIES
OMIM	150325.0008	Disease	p.CYS321ARG	NEPHROTIC SYNDROME, TYPE 5, WITH OCULAR ABNORMALITIES
OMIM	150325.0005	Disease	p.CYS374TER	PIERSON SYNDROME
OMIM	150325.0011	Disease	p.HIS147ARG	NEPHROTIC SYNDROME, TYPE 5, WITH OCULAR ABNORMALITIES
OMIM	150325.0007	Disease	p.LEU1393PHE	NEPHROTIC SYNDROME, TYPE 5, WITH OCULAR ABNORMALITIES
OMIM	150325.0004	Disease	p.TYR689TER	PIERSON SYNDROME

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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