Results for the protein: NP

Results for the Protein: NP_001120983

306922386

324

APC

NCBI

adenomatous polyposis coli protein isoform a [Homo sapiens]

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

20

2

20

2

0

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: Suppressor_APC - pfam11414 ARM - smart00185 ARM - cd00020 Arm - pfam00514 APC_15aa - pfam05972 APC_crr - pfam05923 SAMP - pfam05924 APC_basic - pfam05956 EB1_binding - pfam05937	RefSeq Protein: NP_001120983 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
ARM	cd00020	1.1e-21	587	713
Arm	pfam00514	1.4e-05	494	535
Arm	pfam00514	0.00012	538	579
Arm	pfam00514	4.7e-10	631	671
Arm	pfam00514	1.8e-05	673	713
Suppressor_APC	pfam11414	6.5e-40	136	218
ARM	smart00185	7.2e-09	322	374
ARM	smart00185	2e-09	441	492
ARM	smart00185	1.7e-06	494	535
ARM	smart00185	9.2e-10	631	671
APC_15aa	pfam05972	3.9e-06	1002	1017
APC_15aa	pfam05972	8.4e-05	1118	1133
APC_15aa	pfam05972	9.1e-06	1137	1152
APC_15aa	pfam05972	4.3e-06	1154	1169
APC_crr	pfam05923	6.6e-13	1238	1263
APC_crr	pfam05923	1.9e-09	1351	1376
APC_crr	pfam05923	2.6e-06	1467	1492
SAMP	pfam05924	2.8e-09	1551	1571
APC_crr	pfam05923	8.5e-11	1618	1643
SAMP	pfam05924	2e-08	1701	1720
APC_crr	pfam05923	1.8e-10	1822	1848
APC_crr	pfam05923	3.6e-10	1930	1955
APC_crr	pfam05923	1.4e-11	1988	2013
SAMP	pfam05924	1.4e-08	2016	2035
APC_basic	pfam05956	6.5e-216	2205	2561
EB1_binding	pfam05937	1.8e-129	2652	2825

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs2229995	Polymorphism	p.GLY2484SER	N/A
dbSNP	rs459552	Polymorphism	p.VAL1804ASP	N/A
OMIM	611731.0005	Disease	p.ARG396CYS	GARDNER SYNDROME
OMIM	611731.0006	Disease	p.ARG284TER	FAMILIAL ADENOMATOUS POLYPOSIS 1\|\|GARDNER SYNDROME, INCLUDED
OMIM	611731.0031	Disease	p.ARG481TER	GARDNER SYNDROME
OMIM	611731.0015	Disease	p.ARG536TER	FAMILIAL ADENOMATOUS POLYPOSIS 1
OMIM	611731.0016	Disease	p.ARG546TER	FAMILIAL ADENOMATOUS POLYPOSIS 1
OMIM	611731.0011	Disease	p.GLN1049TER	GASTRIC CANCER, SOMATIC
OMIM	611731.0009	Disease	p.GLN1320TER	COLORECTAL CANCER, SOMATIC
OMIM	611731.0047	Disease	p.GLN218TER	GARDNER SYNDROME
OMIM	611731.0022	Disease	p.GLN225TER	FAMILIAL ADENOMATOUS POLYPOSIS 1\|\|BRAIN TUMOR-POLYPOSIS SYNDROME 2, INCLUDED
OMIM	611731.0014	Disease	p.GLN523TER	FAMILIAL ADENOMATOUS POLYPOSIS 1\|\|BRAIN TUMOR-POLYPOSIS SYNDROME 2, INCLUDED
OMIM	611731.0036	Disease	p.GLU1299GLN	FAMILIAL ADENOMATOUS POLYPOSIS 1, ATTENUATED
OMIM	611731.0010	Disease	p.GLY1102GLU	GASTRIC CANCER, SOMATIC
OMIM	611731.0029	Disease	p.ILE1289LYS	FAMILIAL ADENOMATOUS POLYPOSIS 1, SUSCEPTIBILITY TO\|\|BREAST CANCER, SUSCEPTIBILITY TO, INCLUDED
OMIM	611731.0039	Disease	p.LEU680TER	GARDNER SYNDROME
OMIM	611731.0024	Disease	p.SER1377CYS	HEPATOBLASTOMA, SOMATIC
OMIM	611731.0007	Disease	p.SER262TER	GARDNER SYNDROME
OMIM	611731.0008	Disease	p.SER695TER	GARDNER SYNDROME
OMIM	611731.0021	Disease	p.TRP167TER	FAMILIAL ADENOMATOUS POLYPOSIS 1, ATTENUATED
OMIM	611731.0032	Disease	p.TYR468TER	FAMILIAL ADENOMATOUS POLYPOSIS 1
OMIM	611731.0018	Disease	p.TYR917TER	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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