Results for the protein: Q9Y6N6

Results for the Protein: Q9Y6N6

308153586

10319

LAMC3

NCBI, UniProt

LAMC3_HUMAN RecName: Full=Laminin subunit gamma-3; AltName: Full=Laminin-12 subunit gamma; AltName: Full=Laminin-14 subunit gamma; AltName: Full=Laminin-15 subunit gamma; Flags: Precursor

Known Diseases associated with this Protein:
CORTICAL MALFORMATIONS OCCIPITAL (OCCM)
CORTICAL MALFORMATIONS, OCCIPITAL

4

10

3

8

3

Tips:

The Domains on the Default View are decided by the Domain's E-Value.

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To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic.

Default View: LamNT - smart00136 Laminin_N - pfam00055 EGF_Lam - cd00055 EGF_Lam - smart00180 Laminin_EGF - pfam00053 LamB - smart00281 Laminin_B - pfam00052	Swiss-Prot Protein: Q9Y6N6 Identical to: NP_006050 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
EGF_Lam	cd00055	2.7e-12	326	381
EGF_Lam	cd00055	7.1e-14	382	428
EGF_Lam	cd00055	1.2e-17	429	478
EGF_Lam	cd00055	2e-17	706	753
EGF_Lam	cd00055	8.9e-06	754	808
EGF_Lam	cd00055	4.6e-16	809	864
EGF_Lam	cd00055	4e-17	865	915
EGF_Lam	cd00055	5.8e-19	916	963
EGF_Lam	cd00055	4.3e-11	964	1011
Laminin_N	pfam00055	4.9e-111	35	269
Laminin_EGF	pfam00053	1.4e-09	271	324
Laminin_EGF	pfam00053	2.3e-12	327	380
Laminin_EGF	pfam00053	6.6e-11	383	427
Laminin_EGF	pfam00053	4.8e-17	430	477
Laminin_B	pfam00052	4.6e-10	541	671
Laminin_EGF	pfam00053	5.4e-13	707	752
Laminin_EGF	pfam00053	0.00014	755	807
Laminin_EGF	pfam00053	8.2e-15	810	863
Laminin_EGF	pfam00053	1.1e-15	866	914
Laminin_EGF	pfam00053	2.1e-16	917	962
Laminin_EGF	pfam00053	2.2e-10	965	1013
LamNT	smart00136	1.5e-111	29	269
EGF_Lam	smart00180	4.7e-11	271	324
EGF_Lam	smart00180	9.9e-11	327	380
EGF_Lam	smart00180	7.2e-09	383	427
EGF_Lam	smart00180	9.2e-16	430	477
LamB	smart00281	5.9e-07	536	661
EGF_Lam	smart00180	4.2e-14	707	752
EGF_Lam	smart00180	0.00033	755	807
EGF_Lam	smart00180	4.2e-15	810	863
EGF_Lam	smart00180	4.4e-15	866	914
EGF_Lam	smart00180	3.6e-17	917	962
EGF_Lam	smart00180	1e-07	965	1010

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs4740412	Polymorphism	p.ARG1459GLN	N/A
dbSNP	rs3739510	Polymorphism	p.ARG770GLY	N/A
dbSNP	rs116259120	Polymorphism	p.ARG31LEU	N/A
Swiss-Prot	VAR_056149	Polymorphism	p.ARG1264TRP	N/A
dbSNP	rs10901333	Polymorphism	p.GLU544GLY	N/A
Swiss-Prot	VAR_066404	Disease	p.GLY350ARG	Cortical malformations occipital (OCCM)
dbSNP	rs3739512	Polymorphism	p.HIS73GLN	N/A
dbSNP	rs2275137	Polymorphism	p.PRO174HIS	N/A
dbSNP	rs869457	Polymorphism	p.PRO522SER	N/A
Swiss-Prot	VAR_056148	Polymorphism	p.SER1082GLY	N/A
dbSNP	rs7024108	Polymorphism	p.THR1433MET	N/A
OMIM	604349.0003	Disease	p.GLN386TER	CORTICAL MALFORMATIONS, OCCIPITAL
OMIM	604349.0004	Disease	p.GLY350ARG	CORTICAL MALFORMATIONS, OCCIPITAL
OMIM	604349.0002	Disease	p.TRP157TER	CORTICAL MALFORMATIONS, OCCIPITAL

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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