Results for the protein: P12830

Results for the Protein: P12830

399166

999

CDH1

NCBI, UniProt

CADH1_HUMAN RecName: Full=Cadherin-1; AltName: Full=CAM 120/80; AltName: Full=Epithelial cadherin; Short=E-cadherin; AltName: Full=Uvomorulin; AltName: CD_antigen=CD324; Contains: RecName: Full=E-Cad/CTF1; Contains: RecName: Full=E-Cad/CTF2; Contains: RecName: Full=E-Cad/CTF3; Flags: Precursor

Known Diseases associated with this Protein:
  BREAST CANCER, LOBULAR, SOMATIC
  ENDOMETRIAL CARCINOMA, SOMATIC
  GASTRIC CANCER, HEREDITARY DIFFUSE
  GASTRIC CANCER, HEREDITARY DIFFUSE, INCLUDED
  HEREDITARY DIFFUSE GASTRIC CANCER (HDGC)
  OVARIAN CANCER, SOMATIC

14

26

11

2

27

Tips:

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

Clicking a check box will display or hide the correlated domain.

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

Default View: Cadherin_pro - pfam08758 CA_like - cd00031 Cadherin - pfam00028 CA - smart00112 Cadherin_C - pfam01049	Swiss-Prot Protein: P12830 Identical to: NP_004351 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
CA_like	cd00031	3.5e-39	379	587
Cadherin	pfam00028	4e-21	159	253
Cadherin	pfam00028	5.1e-33	267	366
Cadherin	pfam00028	1.8e-21	380	478
Cadherin	pfam00028	9.1e-16	491	586
Cadherin	pfam00028	1.4e-13	598	686
Cadherin_C	pfam01049	5.2e-74	732	879
Cadherin_pro	pfam08758	4.4e-48	27	116
CA	smart00112	1.8e-19	180	260
CA	smart00112	6.1e-27	287	373
CA	smart00112	6e-14	399	485
CA	smart00112	9e-22	511	593

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_001318	Polymorphism	p.ALA592THR	N/A
dbSNP	rs33935154	Polymorphism	p.ALA617THR	N/A
Swiss-Prot	VAR_055431	Polymorphism	p.ALA634VAL	N/A
Swiss-Prot	VAR_001319	Polymorphism	p.ARG598GLN	N/A
dbSNP	rs33964119	Polymorphism	p.ASN751LYS	N/A
Swiss-Prot	VAR_001309	Polymorphism	p.ASN315SER	N/A
Swiss-Prot	VAR_001311	Polymorphism	p.ASP370ALA	N/A
Swiss-Prot	VAR_048500	Polymorphism	p.ASP72ASN	N/A
Swiss-Prot	VAR_033027	Polymorphism	p.ASP777ASN	N/A
Swiss-Prot	VAR_008712	Disease	p.ASP244GLY	Hereditary diffuse gastric cancer (HDGC)
Swiss-Prot	VAR_021869	Polymorphism	p.CYS695ARG	N/A
Swiss-Prot	VAR_001310	Polymorphism	p.GLU336ASP	N/A
Swiss-Prot	VAR_001314	Polymorphism	p.GLU463GLN	N/A
Swiss-Prot	VAR_023359	Polymorphism	p.GLU880LYS	N/A
Swiss-Prot	VAR_001306	Polymorphism	p.HIS123TYR	N/A
Swiss-Prot	VAR_048501	Polymorphism	p.ILE393ASN	N/A
Swiss-Prot	VAR_023357	Polymorphism	p.LEU478PRO	N/A
Swiss-Prot	VAR_021868	Polymorphism	p.LEU630VAL	N/A
Swiss-Prot	VAR_001321	Polymorphism	p.LEU711VAL	N/A
Swiss-Prot	VAR_033026	Polymorphism	p.MET282ILE	N/A
Swiss-Prot	VAR_013970	Polymorphism	p.SER270ALA	N/A
Swiss-Prot	VAR_001322	Polymorphism	p.SER838GLY	N/A
Swiss-Prot	VAR_013971	Polymorphism	p.THR340ALA	N/A
Swiss-Prot	VAR_001315	Polymorphism	p.THR470ILE	N/A
Swiss-Prot	VAR_001307	Polymorphism	p.THR193PRO	N/A
Swiss-Prot	VAR_008713	Disease	p.VAL487ALA	Hereditary diffuse gastric cancer (HDGC)
Swiss-Prot	VAR_001317	Polymorphism	p.VAL473ASP	N/A
Swiss-Prot	VAR_048502	Polymorphism	p.VAL473ILE	N/A
Swiss-Prot	VAR_023358	Disease	p.VAL832MET	Hereditary diffuse gastric cancer (HDGC)
OMIM	192090.0002	Disease	p.ALA617THR	ENDOMETRIAL CARCINOMA, SOMATIC\|\|GASTRIC CANCER, HEREDITARY DIFFUSE, INCLUDED
OMIM	192090.0015	Disease	p.ALA634VAL	GASTRIC CANCER, HEREDITARY DIFFUSE
OMIM	192090.0012	Disease	p.ARG598TER	GASTRIC CANCER, HEREDITARY DIFFUSE
OMIM	192090.0007	Disease	p.GLN699TER	GASTRIC CANCER, HEREDITARY DIFFUSE
OMIM	192090.0011	Disease	p.GLU24TER	GASTRIC CANCER, HEREDITARY DIFFUSE
OMIM	192090.0004	Disease	p.GLU261TER	BREAST CANCER, LOBULAR, SOMATIC
OMIM	192090.0001	Disease	p.LEU711VAL	ENDOMETRIAL CARCINOMA, SOMATIC
OMIM	192090.0003	Disease	p.SER838GLY	OVARIAN CANCER, SOMATIC
OMIM	192090.0016	Disease	p.THR340ALA	GASTRIC CANCER, HEREDITARY DIFFUSE
OMIM	192090.0009	Disease	p.TRP20TER	GASTRIC CANCER, HEREDITARY DIFFUSE
OMIM	192090.0017	Disease	p.VAL832MET	GASTRIC CANCER, HEREDITARY DIFFUSE

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.

DMDM_info@umbc.edu | 1000 Hilltop Circle, Baltimore, MD 21250 | Department of Biological Sciences | Phone: 410-455-2258