Results for the protein: Q13315

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
PI4Kc_III	cd00893	0.0008	2668	3021
PI3Kc_like	cd00142	7.9e-109	2683	2955
PIKKc_ATR	cd00892	6e-77	2683	2962
TRRAP	cd05163	9.4e-07	2683	2962
PIKKc_SMG1	cd05170	5.8e-39	2683	2962
PIKKc_DNA-PK	cd05172	1.1e-36	2683	2962
PIKKc_ATM	cd05171	4.6e-224	2683	2962
PIKKc_TOR	cd05169	5.4e-48	2683	2962
PIKKc	cd05164	1.2e-164	2683	2955
PI4Kc_III_beta	cd05168	5.5e-05	2699	3010
PI4Kc_III_alpha	cd05167	0.00072	2755	3021
FAT	pfam02259	4.3e-71	2096	2489
PI3_PI4_kinase	pfam00454	3.7e-60	2714	2962
FATC	pfam02260	1.9e-13	3024	3056
TAN	pfam11640	3.5e-48	5	166
PI3Kc	smart00146	4.3e-106	2713	2965

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_010840	Disease	p.ALA2067ASP	Ataxia telangiectasia (AT)
Swiss-Prot	VAR_010852	Polymorphism	p.ALA2420PRO	N/A
Swiss-Prot	VAR_010892	Polymorphism	p.ALA3006PRO	N/A
Swiss-Prot	VAR_056685	Polymorphism	p.ALA1427THR	N/A
Swiss-Prot	VAR_041569	Polymorphism	p.ALA1945THR	N/A
Swiss-Prot	VAR_010848	Polymorphism	p.ALA2274THR	N/A
Swiss-Prot	VAR_010805	Polymorphism	p.ALA350THR	N/A
Swiss-Prot	VAR_010874	Disease	p.ALA2726VAL	Ataxia telangiectasia (AT)
Swiss-Prot	VAR_010846	Disease	p.ARG2227CYS	Ataxia telangiectasia (AT)
Swiss-Prot	VAR_010881	Disease	p.ARG2832CYS	Ataxia telangiectasia (AT)
Swiss-Prot	VAR_010893	Disease	p.ARG3008CYS	Ataxia telangiectasia (AT)
Swiss-Prot	VAR_041549	Polymorphism	p.ARG337CYS	N/A
Swiss-Prot	VAR_010813	Disease	p.ARG785CYS	Ataxia telangiectasia (AT)
Swiss-Prot	VAR_056688	Polymorphism	p.ARG2034GLN	N/A
Swiss-Prot	VAR_041545	Polymorphism	p.ARG23GLN	N/A
Swiss-Prot	VAR_041577	Polymorphism	p.ARG2443GLN	N/A
Swiss-Prot	VAR_041547	Polymorphism	p.ARG250GLN	N/A
Swiss-Prot	VAR_010859	Polymorphism	p.ARG2486GLY	N/A
Swiss-Prot	VAR_010890	Disease	p.ARG2909GLY	Ataxia telangiectasia (AT)
Swiss-Prot	VAR_041581	Polymorphism	p.ARG2719HIS	N/A
Swiss-Prot	VAR_010894	Polymorphism	p.ARG3008HIS	N/A
Swiss-Prot	VAR_041550	Polymorphism	p.ARG337HIS	N/A
Swiss-Prot	VAR_010882	Disease	p.ARG2849PRO	Ataxia telangiectasia (AT)
Swiss-Prot	VAR_056678	Polymorphism	p.ARG45TRP	N/A
Swiss-Prot	VAR_041558	Polymorphism	p.ARG924TRP	N/A
Swiss-Prot	VAR_010812	Disease	p.ASN768ASP	Ataxia telangiectasia (AT)
Swiss-Prot	VAR_041566	Polymorphism	p.ASN1650SER	N/A
Swiss-Prot	VAR_041552	Polymorphism	p.ASN504SER	N/A
Swiss-Prot	VAR_041567	Polymorphism	p.ASN1739THR	N/A
Swiss-Prot	VAR_010833	Polymorphism	p.ASP1853ASN	N/A
Swiss-Prot	VAR_041583	Polymorphism	p.ASP2870ASN	N/A
Swiss-Prot	VAR_010863	Disease	p.ASP2625GLN	Ataxia telangiectasia (AT)
Swiss-Prot	VAR_010799	Polymorphism	p.ASP126GLU	N/A
Swiss-Prot	VAR_056681	Polymorphism	p.ASP814GLU	N/A
Swiss-Prot	VAR_010838	Disease	p.ASP2016GLY	Ataxia telangiectasia (AT)
Swiss-Prot	VAR_010872	Polymorphism	p.ASP2725GLY	N/A
Swiss-Prot	VAR_041546	Polymorphism	p.ASP140HIS	N/A
Swiss-Prot	VAR_010829	Polymorphism	p.ASP1682HIS	N/A
Swiss-Prot	VAR_010834	Polymorphism	p.ASP1853VAL	N/A
Swiss-Prot	VAR_010873	Polymorphism	p.ASP2725VAL	N/A
Swiss-Prot	VAR_041578	Polymorphism	p.CYS2464ARG	N/A
Swiss-Prot	VAR_010878	Disease	p.CYS2824TYR	Ataxia telangiectasia (AT)
Swiss-Prot	VAR_041553	Polymorphism	p.CYS540TYR	N/A
Swiss-Prot	VAR_010857	Polymorphism	p.GLN2442PRO	N/A
Swiss-Prot	VAR_010820	Disease	p.GLU1091ASP	Ataxia telangiectasia (AT)
Swiss-Prot	VAR_041572	Polymorphism	p.GLU1991ASP	N/A
Swiss-Prot	VAR_056684	Polymorphism	p.GLU1313GLN	N/A
Swiss-Prot	VAR_041556	Polymorphism	p.GLU848GLN	N/A
Swiss-Prot	VAR_010842	Polymorphism	p.GLU2139GLY	N/A
Swiss-Prot	VAR_010853	Polymorphism	p.GLU2423GLY	N/A
Swiss-Prot	VAR_056690	Polymorphism	p.GLU2570GLY	N/A
Swiss-Prot	VAR_010868	Disease	p.GLU2668GLY	Ataxia telangiectasia (AT)
Swiss-Prot	VAR_010889	Disease	p.GLU2904GLY	Ataxia telangiectasia (AT)
Swiss-Prot	VAR_010843	Polymorphism	p.GLU2164LYS	N/A
Swiss-Prot	VAR_010849	Polymorphism	p.GLY2287ALA	N/A
Swiss-Prot	VAR_010869	Polymorphism	p.GLY2695ALA	N/A
Swiss-Prot	VAR_010886	Disease	p.GLY2867ARG	Ataxia telangiectasia (AT)
Swiss-Prot	VAR_010807	Polymorphism	p.GLY514ASP	N/A
Swiss-Prot	VAR_010839	Disease	p.GLY2063GLU	Ataxia telangiectasia (AT)
Swiss-Prot	VAR_056692	Polymorphism	p.GLY2709SER	N/A
Swiss-Prot	VAR_010876	Polymorphism	p.GLY2765SER	N/A
Swiss-Prot	VAR_010862	Disease	p.HIS2554ASP	Ataxia telangiectasia (AT)
Swiss-Prot	VAR_010819	Disease	p.HIS1082LEU	Ataxia telangiectasia (AT)
Swiss-Prot	VAR_041562	Polymorphism	p.HIS1380TYR	N/A
Swiss-Prot	VAR_010870	Disease	p.ILE2702ARG	Ataxia telangiectasia (AT)
Swiss-Prot	VAR_041564	Polymorphism	p.ILE1469MET	N/A
Swiss-Prot	VAR_041575	Polymorphism	p.ILE2356PHE	N/A
Swiss-Prot	VAR_010821	Polymorphism	p.ILE1407THR	N/A
Swiss-Prot	VAR_010806	Polymorphism	p.ILE352THR	N/A
Swiss-Prot	VAR_010803	Disease	p.ILE323VAL	Ataxia telangiectasia (AT)
Swiss-Prot	VAR_041579	Polymorphism	p.LEU2492ARG	N/A
Swiss-Prot	VAR_010871	Polymorphism	p.LEU2722ARG	N/A
Swiss-Prot	VAR_010815	Disease	p.LEU950ARG	Ataxia telangiectasia (AT)
Swiss-Prot	VAR_010816	Disease	p.LEU1001GLN	Ataxia telangiectasia (AT)
Swiss-Prot	VAR_010835	Polymorphism	p.LEU1910HIS	N/A
Swiss-Prot	VAR_010822	Polymorphism	p.LEU1420PHE	N/A
Swiss-Prot	VAR_056686	Polymorphism	p.LEU1541PHE	N/A
Swiss-Prot	VAR_041573	Polymorphism	p.LEU2307PHE	N/A
Swiss-Prot	VAR_056683	Polymorphism	p.LEU942PHE	N/A
Swiss-Prot	VAR_010823	Disease	p.LEU1420PRO	Ataxia telangiectasia (AT)
Swiss-Prot	VAR_010826	Disease	p.LEU1465PRO	Ataxia telangiectasia (AT)
Swiss-Prot	VAR_041574	Polymorphism	p.LEU2332PRO	N/A
Swiss-Prot	VAR_010865	Disease	p.LEU2656PRO	Ataxia telangiectasia (AT)
Swiss-Prot	VAR_010888	Polymorphism	p.LEU2890VAL	N/A
Swiss-Prot	VAR_041554	Polymorphism	p.LEU546VAL	N/A
Swiss-Prot	VAR_010824	Polymorphism	p.LYS1454ASN	N/A
Swiss-Prot	VAR_010895	Polymorphism	p.LYS3018ASN	N/A
Swiss-Prot	VAR_010801	Disease	p.LYS224GLU	Ataxia telangiectasia (AT)
Swiss-Prot	VAR_041561	Polymorphism	p.MET1321ILE	N/A
Swiss-Prot	VAR_041568	Polymorphism	p.MET1916ILE	N/A
Swiss-Prot	VAR_010817	Polymorphism	p.MET1040VAL	N/A
Swiss-Prot	VAR_010879	Disease	p.PHE2827CYS	Ataxia telangiectasia (AT)
Swiss-Prot	VAR_010875	Polymorphism	p.PHE2732LEU	N/A
Swiss-Prot	VAR_041555	Polymorphism	p.PHE582LEU	N/A
Swiss-Prot	VAR_010814	Polymorphism	p.PHE858LEU	N/A
Swiss-Prot	VAR_010825	Polymorphism	p.PHE1463SER	N/A
Swiss-Prot	VAR_010808	Disease	p.PHE570SER	Ataxia telangiectasia (AT)
Swiss-Prot	VAR_010818	Polymorphism	p.PRO1054ARG	N/A
Swiss-Prot	VAR_010827	Disease	p.PRO1566ARG	Ataxia telangiectasia (AT)
Swiss-Prot	VAR_041582	Polymorphism	p.PRO2842ARG	N/A
Swiss-Prot	VAR_010880	Disease	p.PRO2829LEU	Ataxia telangiectasia (AT)
Swiss-Prot	VAR_010802	Disease	p.PRO292LEU	Ataxia telangiectasia (AT)
Swiss-Prot	VAR_041563	Polymorphism	p.PRO1382SER	N/A
Swiss-Prot	VAR_041557	Polymorphism	p.PRO872SER	N/A
Swiss-Prot	VAR_010830	Disease	p.SER1691ARG	Ataxia telangiectasia (AT)
Swiss-Prot	VAR_010883	Disease	p.SER2855ARG	Ataxia telangiectasia (AT)
Swiss-Prot	VAR_056680	Polymorphism	p.SER788ARG	N/A
Swiss-Prot	VAR_041571	Polymorphism	p.SER1983ASN	N/A
Swiss-Prot	VAR_010844	Disease	p.SER2218CYS	Ataxia telangiectasia (AT)
Swiss-Prot	VAR_010798	Polymorphism	p.SER49CYS	N/A
Swiss-Prot	VAR_041576	Polymorphism	p.SER2408LEU	N/A
Swiss-Prot	VAR_041560	Polymorphism	p.SER1179PHE	N/A
Swiss-Prot	VAR_041548	Polymorphism	p.SER333PHE	N/A
Swiss-Prot	VAR_010810	Polymorphism	p.SER707PRO	N/A
Swiss-Prot	VAR_041580	Polymorphism	p.THR2666ALA	N/A
Swiss-Prot	VAR_041559	Polymorphism	p.THR935ALA	N/A
Swiss-Prot	VAR_010837	Polymorphism	p.THR1953ARG	N/A
Swiss-Prot	VAR_010831	Disease	p.THR1743ILE	Ataxia telangiectasia (AT)
Swiss-Prot	VAR_010856	Polymorphism	p.THR2438ILE	N/A
Swiss-Prot	VAR_056691	Polymorphism	p.THR2640ILE	N/A
Swiss-Prot	VAR_056689	Polymorphism	p.THR2335LYS	N/A
Swiss-Prot	VAR_056682	Polymorphism	p.THR935MET	N/A
Swiss-Prot	VAR_010850	Polymorphism	p.THR2396SER	N/A
Swiss-Prot	VAR_056679	Polymorphism	p.THR761SER	N/A
Swiss-Prot	VAR_010860	Disease	p.TRP2491ARG	Ataxia telangiectasia (AT)
Swiss-Prot	VAR_010858	Disease	p.TYR2470ASP	Ataxia telangiectasia (AT)
Swiss-Prot	VAR_041565	Polymorphism	p.TYR1475CYS	N/A
Swiss-Prot	VAR_041570	Polymorphism	p.TYR1961CYS	N/A
Swiss-Prot	VAR_010804	Polymorphism	p.TYR332CYS	N/A
Swiss-Prot	VAR_010828	Polymorphism	p.VAL1570ALA	N/A
Swiss-Prot	VAR_041551	Polymorphism	p.VAL410ALA	N/A
Swiss-Prot	VAR_010836	Disease	p.VAL1913GLY	Ataxia telangiectasia (AT)
Swiss-Prot	VAR_010854	Disease	p.VAL2424GLY	Ataxia telangiectasia (AT)
Swiss-Prot	VAR_010841	Polymorphism	p.VAL2079ILE	N/A
Swiss-Prot	VAR_056687	Polymorphism	p.VAL1729LEU	N/A
Swiss-Prot	VAR_010800	Polymorphism	p.VAL182LEU	N/A

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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