Results for the protein: P25054

Results for the Protein: P25054

97535708

324

APC

NCBI, UniProt

APC_HUMAN RecName: Full=Adenomatous polyposis coli protein; Short=Protein APC; AltName: Full=Deleted in polyposis 2.5

Known Diseases associated with this Protein:
  BRAIN TUMOR-POLYPOSIS SYNDROME 2, INCLUDED
  BREAST CANCER, SUSCEPTIBILITY TO, INCLUDED
  COLORECTAL CANCER, SOMATIC
  FAMILIAL ADENOMATOUS POLYPOSIS (FAP)
  FAMILIAL ADENOMATOUS POLYPOSIS 1
  FAMILIAL ADENOMATOUS POLYPOSIS 1, ATTENUATED
  FAMILIAL ADENOMATOUS POLYPOSIS 1, SUSCEPTIBILITY TO
  GARDNER SYNDROME
  GARDNER SYNDROME, INCLUDED
  GASTRIC CANCER (GASC)
  GASTRIC CANCER, SOMATIC
  HEPATOBLASTOMA, SOMATIC
  MEDULLOBLASTOMA (MDB)

44

22

20

2

44

Tips:

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Default View: Suppressor_APC - pfam11414 ARM - smart00185 ARM - cd00020 Arm - pfam00514 APC_15aa - pfam05972 APC_crr - pfam05923 SAMP - pfam05924 APC_basic - pfam05956 EB1_binding - pfam05937	Swiss-Prot Protein: P25054 Identical to: NP_001120982, NP_000029 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
ARM	cd00020	1.1e-21	605	731
Arm	pfam00514	1.4e-05	512	553
Arm	pfam00514	0.00012	556	597
Arm	pfam00514	4.7e-10	649	689
Arm	pfam00514	1.8e-05	691	731
Suppressor_APC	pfam11414	6.5e-40	126	208
ARM	smart00185	7.2e-09	340	392
ARM	smart00185	2e-09	459	510
ARM	smart00185	1.7e-06	512	553
ARM	smart00185	9.2e-10	649	689
APC_15aa	pfam05972	3.9e-06	1020	1035
APC_15aa	pfam05972	8.4e-05	1136	1151
APC_15aa	pfam05972	9.1e-06	1155	1170
APC_15aa	pfam05972	4.3e-06	1172	1187
APC_crr	pfam05923	6.6e-13	1256	1281
APC_crr	pfam05923	1.9e-09	1369	1394
APC_crr	pfam05923	2.6e-06	1485	1510
SAMP	pfam05924	2.8e-09	1569	1589
APC_crr	pfam05923	8.5e-11	1636	1661
SAMP	pfam05924	2e-08	1719	1738
APC_crr	pfam05923	1.8e-10	1840	1866
APC_crr	pfam05923	3.6e-10	1948	1973
APC_crr	pfam05923	1.4e-11	2006	2031
SAMP	pfam05924	1.4e-08	2034	2053
APC_basic	pfam05956	6.5e-216	2223	2579
EB1_binding	pfam05937	1.8e-129	2670	2843

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_009616	Disease	p.ALA1184PRO	Familial adenomatous polyposis (FAP)
Swiss-Prot	VAR_017653	Disease	p.ALA1296VAL	Medulloblastoma (MDB)
Swiss-Prot	VAR_012976	Polymorphism	p.ALA1508VAL	N/A
Swiss-Prot	VAR_008992	Polymorphism	p.ARG1171CYS	N/A
Swiss-Prot	VAR_005033	Disease	p.ARG414CYS	Familial adenomatous polyposis (FAP)
Swiss-Prot	VAR_005043	Disease	p.ARG1171HIS	Gastric cancer (GASC)
Swiss-Prot	VAR_053977	Polymorphism	p.ARG1882THR	N/A
Swiss-Prot	VAR_005053	Disease	p.ARG1348TRP	Familial adenomatous polyposis (FAP)
Swiss-Prot	VAR_009613	Disease	p.ARG99TRP	Familial adenomatous polyposis (FAP)
Swiss-Prot	VAR_005041	Polymorphism	p.ASN1118ASP	N/A
Swiss-Prot	VAR_005039	Disease	p.ASN942ASP	Gastric cancer (GASC)
Swiss-Prot	VAR_005054	Polymorphism	p.ASP1422HIS	N/A
Swiss-Prot	VAR_009617	Polymorphism	p.GLU1317GLN	N/A
Swiss-Prot	VAR_009615	Polymorphism	p.GLU1057GLY	N/A
Swiss-Prot	VAR_005038	Disease	p.GLU911GLY	Familial adenomatous polyposis (FAP)
Swiss-Prot	VAR_005035	Disease	p.GLY817CYS	Gastric cancer (GASC)
Swiss-Prot	VAR_005042	Disease	p.GLY1120GLU	Gastric cancer (GASC)
Swiss-Prot	VAR_005050	Disease	p.GLY1312GLU	Gastric cancer (GASC)
dbSNP	rs2229995	Polymorphism	p.GLY2502SER	N/A
Swiss-Prot	VAR_005049	Polymorphism	p.ILE1307LYS	N/A
Swiss-Prot	VAR_035794	Polymorphism	p.ILE1254PHE	N/A
Swiss-Prot	VAR_005046	Disease	p.ILE1259THR	Gastric cancer (GASC)
Swiss-Prot	VAR_008994	Polymorphism	p.ILE2738THR	N/A
Swiss-Prot	VAR_005036	Disease	p.ILE880THR	Gastric cancer (GASC)
Swiss-Prot	VAR_005048	Polymorphism	p.ILE1304VAL	N/A
Swiss-Prot	VAR_005057	Disease	p.LEU2839PHE	Familial adenomatous polyposis (FAP)
Swiss-Prot	VAR_005045	Disease	p.PHE1197SER	Gastric cancer (GASC)
Swiss-Prot	VAR_005044	Disease	p.PRO1176LEU	Familial adenomatous polyposis (FAP)
Swiss-Prot	VAR_053976	Polymorphism	p.PRO870SER	N/A
Swiss-Prot	VAR_065133	Polymorphism	p.SER1395CYS	N/A
Swiss-Prot	VAR_005056	Disease	p.SER2621CYS	Familial adenomatous polyposis (FAP)
Swiss-Prot	VAR_017655	Disease	p.SER1495GLY	Medulloblastoma (MDB)
Swiss-Prot	VAR_009614	Disease	p.SER722GLY	Familial adenomatous polyposis (FAP)
Swiss-Prot	VAR_005032	Disease	p.SER171ILE	Familial adenomatous polyposis (FAP)
Swiss-Prot	VAR_020142	Polymorphism	p.SER1973THR	N/A
Swiss-Prot	VAR_005034	Disease	p.SER784THR	Familial adenomatous polyposis (FAP)
Swiss-Prot	VAR_005037	Polymorphism	p.SER906TYR	N/A
Swiss-Prot	VAR_005051	Disease	p.THR1313ALA	Familial adenomatous polyposis (FAP)
Swiss-Prot	VAR_005047	Polymorphism	p.THR1292MET	N/A
Swiss-Prot	VAR_020141	Polymorphism	p.THR1496SER	N/A
Swiss-Prot	VAR_005040	Polymorphism	p.TYR1027CYS	N/A
Swiss-Prot	VAR_005052	Disease	p.VAL1326ALA	Gastric cancer (GASC)
dbSNP	rs459552	Polymorphism	p.VAL1822ASP	N/A
Swiss-Prot	VAR_017654	Disease	p.VAL1472ILE	Medulloblastoma (MDB)
Swiss-Prot	VAR_012975	Polymorphism	p.VAL890ILE	N/A
Swiss-Prot	VAR_053978	Polymorphism	p.VAL2499LEU	N/A
OMIM	611731.0005	Disease	p.ARG414CYS	GARDNER SYNDROME
OMIM	611731.0006	Disease	p.ARG302TER	FAMILIAL ADENOMATOUS POLYPOSIS 1\|\|GARDNER SYNDROME, INCLUDED
OMIM	611731.0031	Disease	p.ARG499TER	GARDNER SYNDROME
OMIM	611731.0015	Disease	p.ARG554TER	FAMILIAL ADENOMATOUS POLYPOSIS 1
OMIM	611731.0016	Disease	p.ARG564TER	FAMILIAL ADENOMATOUS POLYPOSIS 1
OMIM	611731.0011	Disease	p.GLN1067TER	GASTRIC CANCER, SOMATIC
OMIM	611731.0009	Disease	p.GLN1338TER	COLORECTAL CANCER, SOMATIC
OMIM	611731.0047	Disease	p.GLN208TER	GARDNER SYNDROME
OMIM	611731.0022	Disease	p.GLN215TER	FAMILIAL ADENOMATOUS POLYPOSIS 1\|\|BRAIN TUMOR-POLYPOSIS SYNDROME 2, INCLUDED
OMIM	611731.0014	Disease	p.GLN541TER	FAMILIAL ADENOMATOUS POLYPOSIS 1\|\|BRAIN TUMOR-POLYPOSIS SYNDROME 2, INCLUDED
OMIM	611731.0036	Disease	p.GLU1317GLN	FAMILIAL ADENOMATOUS POLYPOSIS 1, ATTENUATED
OMIM	611731.0010	Disease	p.GLY1120GLU	GASTRIC CANCER, SOMATIC
OMIM	611731.0029	Disease	p.ILE1307LYS	FAMILIAL ADENOMATOUS POLYPOSIS 1, SUSCEPTIBILITY TO\|\|BREAST CANCER, SUSCEPTIBILITY TO, INCLUDED
OMIM	611731.0039	Disease	p.LEU698TER	GARDNER SYNDROME
OMIM	611731.0024	Disease	p.SER1395CYS	HEPATOBLASTOMA, SOMATIC
OMIM	611731.0007	Disease	p.SER280TER	GARDNER SYNDROME
OMIM	611731.0008	Disease	p.SER713TER	GARDNER SYNDROME
OMIM	611731.0021	Disease	p.TRP157TER	FAMILIAL ADENOMATOUS POLYPOSIS 1, ATTENUATED
OMIM	611731.0032	Disease	p.TYR486TER	FAMILIAL ADENOMATOUS POLYPOSIS 1
OMIM	611731.0018	Disease	p.TYR935TER	FAMILIAL ADENOMATOUS POLYPOSIS 1

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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