Results for the protein: P42336

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
C2_PI3K_class_I_gamm	cd08399	6.9e-08	323	484
C2A_PI3K_class_II	cd04012	5e-07	325	487
C2_PI3K_like	cd08380	7.2e-66	325	484
C2_PI3K_class_I_alph	cd08398	2.4e-135	325	484
C2_PI3K_class_I_beta	cd08693	6.5e-42	325	483
PI3Ka_III	cd00870	2.6e-15	520	677
PI3Ka	cd00864	4e-82	525	677
PI3Ka_II	cd00869	4.5e-37	525	692
PI3Ka_I	cd00872	1.4e-132	525	696
PI3Kc	cd00891	6.1e-224	699	1064
PI3Kc_IB_gamma	cd00894	6.5e-117	699	1064
PI3Kc_III	cd00896	2.6e-20	699	1051
PI3Kc_I	cd05165	1.6e-287	699	1064
PI3Kc_II	cd05166	2.7e-96	699	1064
PI3Kc_IA_beta	cd05173	5.5e-134	699	1065
PI3Kc_IA_delta	cd05174	4.3e-130	699	1064
PI3Kc_IA_alpha	cd05175		699	1064
PI3Kc_C2_beta	cd00895	5.1e-77	700	1064
PI3Kc_C2_alpha	cd05176	4.1e-77	703	1064
PI3Kc_C2_gamma	cd05177	3.4e-70	703	1064
PI4Kc_III_alpha	cd05167	2.8e-23	754	1059
PI3Kc_like	cd00142	1.2e-109	762	1008
PI4Kc_III	cd00893	8.2e-32	762	1067
PIKKc_ATR	cd00892	3e-06	766	979
PIKKc	cd05164	7.6e-08	767	1008
PIKKc_DNA-PK	cd05172	0.00022	767	993
PIKKc_ATM	cd05171	2.2e-08	780	1004
PI4Kc_III_beta	cd05168	1.8e-15	787	1055
PIKKc_TOR	cd05169	2.3e-05	794	1006
PI3K_p85B	pfam02192	2.5e-43	31	108
PI3K_rbd	pfam00794	3.3e-56	173	292
PI3K_C2	pfam00792	6.9e-45	350	485
PI3Ka	pfam00613	1.5e-110	519	704
PI3_PI4_kinase	pfam00454	1.5e-95	796	1015
PI3K_p85B	smart00143	3.8e-49	31	108
PI3K_rbd	smart00144	9.9e-56	173	292
PI3K_C2	smart00142	1.7e-35	322	418
PI3Ka	smart00145	9.9e-100	521	704
PI3Kc	smart00146	2.7e-115	798	1022

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_026189	Disease	p.ALA1035VAL	Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP)
Swiss-Prot	VAR_026187	Polymorphism	p.ARG1023GLN	N/A
Swiss-Prot	VAR_026167	Disease	p.ARG88GLN	Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP)
Swiss-Prot	VAR_026166	Polymorphism	p.ARG38HIS	N/A
Swiss-Prot	VAR_069790	Polymorphism	p.ARG382LYS	N/A
Swiss-Prot	VAR_026171	Disease	p.CYS420ARG	Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE)
Swiss-Prot	VAR_069254	Disease	p.CYS378TYR	Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP)
Swiss-Prot	VAR_026182	Polymorphism	p.GLN546ARG	N/A
Swiss-Prot	VAR_026179	Polymorphism	p.GLN546GLU	N/A
Swiss-Prot	VAR_026180	Polymorphism	p.GLN546LYS	N/A
Swiss-Prot	VAR_026181	Polymorphism	p.GLN546PRO	N/A
Swiss-Prot	VAR_026176	Polymorphism	p.GLU545ALA	N/A
Swiss-Prot	VAR_026172	Polymorphism	p.GLU453GLN	N/A
Swiss-Prot	VAR_026174	Polymorphism	p.GLU542GLN	N/A
Swiss-Prot	VAR_026177	Disease	p.GLU545GLY	Keratosis, seborrheic (KERSEB)
Swiss-Prot	VAR_069787	Polymorphism	p.GLU135LYS	N/A
Swiss-Prot	VAR_069788	Polymorphism	p.GLU218LYS	N/A
Swiss-Prot	VAR_069253	Disease	p.GLU365LYS	Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP)
Swiss-Prot	VAR_026173	Disease	p.GLU542LYS	Keratosis, seborrheic (KERSEB)
Swiss-Prot	VAR_026178	Disease	p.GLU545LYS	Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP)
Swiss-Prot	VAR_069256	Disease	p.GLU726LYS	Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP)
Swiss-Prot	VAR_069251	Disease	p.GLU81LYS	Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP)
Swiss-Prot	VAR_026175	Polymorphism	p.GLU542VAL	N/A
Swiss-Prot	VAR_026183	Polymorphism	p.GLY1007ARG	N/A
Swiss-Prot	VAR_069252	Disease	p.GLY364ARG	Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP)
Swiss-Prot	VAR_069257	Disease	p.GLY914ARG	Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP)
Swiss-Prot	VAR_026194	Polymorphism	p.GLY1050ASP	N/A
Swiss-Prot	VAR_069786	Polymorphism	p.GLY118ASP	N/A
Swiss-Prot	VAR_069259	Disease	p.GLY1049SER	Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP)
Swiss-Prot	VAR_026168	Polymorphism	p.GLY106VAL	N/A
Swiss-Prot	VAR_026192	Disease	p.HIS1047ARG	Keratosis, seborrheic (KERSEB)
Swiss-Prot	VAR_026191	Polymorphism	p.HIS1047LEU	N/A
Swiss-Prot	VAR_026196	Polymorphism	p.HIS1065LEU	N/A
Swiss-Prot	VAR_026193	Disease	p.HIS1047TYR	Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP)
Swiss-Prot	VAR_026197	Polymorphism	p.HIS1065TYR	N/A
dbSNP	rs3729680	Polymorphism	p.ILE391MET	N/A
Swiss-Prot	VAR_042942	Polymorphism	p.ILE43VAL	N/A
Swiss-Prot	VAR_026190	Disease	p.MET1043ILE	Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP)
Swiss-Prot	VAR_042943	Polymorphism	p.SER332ARG	N/A
Swiss-Prot	VAR_069258	Disease	p.THR1025ALA	Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP)
Swiss-Prot	VAR_026188	Polymorphism	p.THR1025ASN	N/A
Swiss-Prot	VAR_026195	Polymorphism	p.THR1052LYS	N/A
Swiss-Prot	VAR_026186	Polymorphism	p.TYR1021ASN	N/A
Swiss-Prot	VAR_026184	Disease	p.TYR1021CYS	Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP)
Swiss-Prot	VAR_026169	Polymorphism	p.TYR343CYS	N/A
Swiss-Prot	VAR_026185	Polymorphism	p.TYR1021HIS	N/A
Swiss-Prot	VAR_069789	Polymorphism	p.VAL356ILE	N/A
OMIM	171834.0019	Disease	p.ARG382LYS	COWDEN DISEASE 5
OMIM	171834.0010	Disease	p.CYS420ARG	CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL\|\|NEVI, SOMATIC
OMIM	171834.0012	Disease	p.CYS378TYR	MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC
OMIM	171834.0006	Disease	p.GLN546GLU	BREAST CANCER, SOMATIC
OMIM	171834.0005	Disease	p.GLN546LYS	OVARIAN CANCER, EPITHELIAL, SOMATIC\|\|COLORECTAL CANCER, SOMATIC, INCLUDED
OMIM	171834.0008	Disease	p.GLU545ALA	HEPATOCELLULAR CARCINOMA, SOMATIC
OMIM	171834.0004	Disease	p.GLU545GLY	COLORECTAL CANCER, SOMATIC\|\|NEVUS, EPIDERMAL, SOMATIC, INCLUDED
OMIM	171834.0016	Disease	p.GLU135LYS	COWDEN DISEASE 5
OMIM	171834.0017	Disease	p.GLU218LYS	COWDEN DISEASE 5
OMIM	171834.0009	Disease	p.GLU542LYS	CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL\|\|NEVI, SOMATIC
OMIM	171834.0003	Disease	p.GLU545LYS	BREAST CANCER, SOMATIC\|\|OVARIAN CANCER, EPITHELIAL, SOMATIC, INCLUDED;;\|\|COLORECTAL CANCER, SOMATIC, INCLUDED;;\|\|GASTRIC
OMIM	171834.0011	Disease	p.GLY914ARG	MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC
OMIM	171834.0015	Disease	p.GLY118ASP	COWDEN DISEASE 5
OMIM	171834.0001	Disease	p.HIS1047ARG	BREAST CANCER, SOMATIC\|\|OVARIAN CANCER, EPITHELIAL, SOMATIC, INCLUDED;;\|\|COLORECTAL CANCER, SOMATIC, INCLUDED;;\|\|GASTRIC
OMIM	171834.0002	Disease	p.HIS1047LEU	BREAST CANCER, SOMATIC\|\|CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL\|\|NEVI, SOMATIC, INCLUDED
OMIM	171834.0013	Disease	p.HIS1047TYR	MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC
OMIM	171834.0021	Disease	p.LEU632TER	COWDEN DISEASE 5
OMIM	171834.0018	Disease	p.VAL356ILE	COWDEN DISEASE 5

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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