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Results for the Protein: Q13315
317373479
472
ATM

ATM_HUMAN RecName: Full=Serine-protein kinase ATM; AltName: Full=Ataxia telangiectasia mutated; Short=A-T mutated

Known Diseases associated with this Protein:
  ATAXIA TELANGIECTASIA (AT)
40
96
0
0
136
Tips:
 The Domains on the Default View are decided by the Domain's E-Value.

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



Default View:

TAN - pfam11640
FAT - pfam02259
PI3Kc_III - cd00896
PI4Kc_III - cd00893
PIKKc_ATM - cd05171
PIKKc - cd05164
PIKKc_TOR - cd05169
PIKKc_DNA-PK - cd05172
PI3Kc_like - cd00142
TRRAP - cd05163
PIKKc_SMG1 - cd05170
PIKKc_ATR - cd00892
PI4Kc_III_beta - cd05168
PI3Kc - smart00146
PI3_PI4_kinase - pfam00454
PI4Kc_III_alpha - cd05167
FATC - pfam02260


Swiss-Prot Protein: Q13315
   Default View:
















Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
PI3Kc_IIIcd008960.0008426203016
PI4Kc_IIIcd008930.000826683021
PI3Kc_likecd001427.9e-10926832955
PIKKc_ATRcd008926e-7726832962
TRRAPcd051639.4e-0726832962
PIKKc_SMG1cd051705.8e-3926832962
PIKKc_DNA-PKcd051721.1e-3626832962
PIKKc_ATMcd051714.6e-22426832962
PIKKc_TORcd051695.4e-4826832962
PIKKccd051641.2e-16426832955
PI4Kc_III_betacd051685.5e-0526993010
PI4Kc_III_alphacd051670.0007227553021
FATpfam022594.3e-7120962489
PI3_PI4_kinasepfam004543.7e-6027142962
FATCpfam022601.9e-1330243056
TANpfam116403.5e-485166
PI3Kcsmart001464.3e-10627132965

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_010840Diseasep.ALA2067ASPAtaxia telangiectasia (AT)
Swiss-ProtVAR_010852Polymorphismp.ALA2420PRON/A
Swiss-ProtVAR_010892Polymorphismp.ALA3006PRON/A
Swiss-ProtVAR_056685Polymorphismp.ALA1427THRN/A
Swiss-ProtVAR_041569Polymorphismp.ALA1945THRN/A
Swiss-ProtVAR_010848Polymorphismp.ALA2274THRN/A
Swiss-ProtVAR_010805Polymorphismp.ALA350THRN/A
Swiss-ProtVAR_010874Diseasep.ALA2726VALAtaxia telangiectasia (AT)
Swiss-ProtVAR_010846Diseasep.ARG2227CYSAtaxia telangiectasia (AT)
Swiss-ProtVAR_010881Diseasep.ARG2832CYSAtaxia telangiectasia (AT)
Swiss-ProtVAR_010893Diseasep.ARG3008CYSAtaxia telangiectasia (AT)
Swiss-ProtVAR_041549Polymorphismp.ARG337CYSN/A
Swiss-ProtVAR_010813Diseasep.ARG785CYSAtaxia telangiectasia (AT)
Swiss-ProtVAR_056688Polymorphismp.ARG2034GLNN/A
Swiss-ProtVAR_041545Polymorphismp.ARG23GLNN/A
Swiss-ProtVAR_041577Polymorphismp.ARG2443GLNN/A
Swiss-ProtVAR_041547Polymorphismp.ARG250GLNN/A
Swiss-ProtVAR_010859Polymorphismp.ARG2486GLYN/A
Swiss-ProtVAR_010890Diseasep.ARG2909GLYAtaxia telangiectasia (AT)
Swiss-ProtVAR_041581Polymorphismp.ARG2719HISN/A
Swiss-ProtVAR_010894Polymorphismp.ARG3008HISN/A
Swiss-ProtVAR_041550Polymorphismp.ARG337HISN/A
Swiss-ProtVAR_010882Diseasep.ARG2849PROAtaxia telangiectasia (AT)
Swiss-ProtVAR_056678Polymorphismp.ARG45TRPN/A
Swiss-ProtVAR_041558Polymorphismp.ARG924TRPN/A
Swiss-ProtVAR_010812Diseasep.ASN768ASPAtaxia telangiectasia (AT)
Swiss-ProtVAR_041566Polymorphismp.ASN1650SERN/A
Swiss-ProtVAR_041552Polymorphismp.ASN504SERN/A
Swiss-ProtVAR_041567Polymorphismp.ASN1739THRN/A
Swiss-ProtVAR_010833Polymorphismp.ASP1853ASNN/A
Swiss-ProtVAR_041583Polymorphismp.ASP2870ASNN/A
Swiss-ProtVAR_010863Diseasep.ASP2625GLNAtaxia telangiectasia (AT)
Swiss-ProtVAR_010799Polymorphismp.ASP126GLUN/A
Swiss-ProtVAR_056681Polymorphismp.ASP814GLUN/A
Swiss-ProtVAR_010838Diseasep.ASP2016GLYAtaxia telangiectasia (AT)
Swiss-ProtVAR_010872Polymorphismp.ASP2725GLYN/A
Swiss-ProtVAR_041546Polymorphismp.ASP140HISN/A
Swiss-ProtVAR_010829Polymorphismp.ASP1682HISN/A
Swiss-ProtVAR_010834Polymorphismp.ASP1853VALN/A
Swiss-ProtVAR_010873Polymorphismp.ASP2725VALN/A
Swiss-ProtVAR_041578Polymorphismp.CYS2464ARGN/A
Swiss-ProtVAR_010878Diseasep.CYS2824TYRAtaxia telangiectasia (AT)
Swiss-ProtVAR_041553Polymorphismp.CYS540TYRN/A
Swiss-ProtVAR_010857Polymorphismp.GLN2442PRON/A
Swiss-ProtVAR_010820Diseasep.GLU1091ASPAtaxia telangiectasia (AT)
Swiss-ProtVAR_041572Polymorphismp.GLU1991ASPN/A
Swiss-ProtVAR_056684Polymorphismp.GLU1313GLNN/A
Swiss-ProtVAR_041556Polymorphismp.GLU848GLNN/A
Swiss-ProtVAR_010842Polymorphismp.GLU2139GLYN/A
Swiss-ProtVAR_010853Polymorphismp.GLU2423GLYN/A
Swiss-ProtVAR_056690Polymorphismp.GLU2570GLYN/A
Swiss-ProtVAR_010868Diseasep.GLU2668GLYAtaxia telangiectasia (AT)
Swiss-ProtVAR_010889Diseasep.GLU2904GLYAtaxia telangiectasia (AT)
Swiss-ProtVAR_010843Polymorphismp.GLU2164LYSN/A
Swiss-ProtVAR_010849Polymorphismp.GLY2287ALAN/A
Swiss-ProtVAR_010869Polymorphismp.GLY2695ALAN/A
Swiss-ProtVAR_010886Diseasep.GLY2867ARGAtaxia telangiectasia (AT)
Swiss-ProtVAR_010807Polymorphismp.GLY514ASPN/A
Swiss-ProtVAR_010839Diseasep.GLY2063GLUAtaxia telangiectasia (AT)
Swiss-ProtVAR_056692Polymorphismp.GLY2709SERN/A
Swiss-ProtVAR_010876Polymorphismp.GLY2765SERN/A
Swiss-ProtVAR_010862Diseasep.HIS2554ASPAtaxia telangiectasia (AT)
Swiss-ProtVAR_010819Diseasep.HIS1082LEUAtaxia telangiectasia (AT)
Swiss-ProtVAR_041562Polymorphismp.HIS1380TYRN/A
Swiss-ProtVAR_010870Diseasep.ILE2702ARGAtaxia telangiectasia (AT)
Swiss-ProtVAR_041564Polymorphismp.ILE1469METN/A
Swiss-ProtVAR_041575Polymorphismp.ILE2356PHEN/A
Swiss-ProtVAR_010821Polymorphismp.ILE1407THRN/A
Swiss-ProtVAR_010806Polymorphismp.ILE352THRN/A
Swiss-ProtVAR_010803Diseasep.ILE323VALAtaxia telangiectasia (AT)
Swiss-ProtVAR_041579Polymorphismp.LEU2492ARGN/A
Swiss-ProtVAR_010871Polymorphismp.LEU2722ARGN/A
Swiss-ProtVAR_010815Diseasep.LEU950ARGAtaxia telangiectasia (AT)
Swiss-ProtVAR_010816Diseasep.LEU1001GLNAtaxia telangiectasia (AT)
Swiss-ProtVAR_010835Polymorphismp.LEU1910HISN/A
Swiss-ProtVAR_010822Polymorphismp.LEU1420PHEN/A
Swiss-ProtVAR_056686Polymorphismp.LEU1541PHEN/A
Swiss-ProtVAR_041573Polymorphismp.LEU2307PHEN/A
Swiss-ProtVAR_056683Polymorphismp.LEU942PHEN/A
Swiss-ProtVAR_010823Diseasep.LEU1420PROAtaxia telangiectasia (AT)
Swiss-ProtVAR_010826Diseasep.LEU1465PROAtaxia telangiectasia (AT)
Swiss-ProtVAR_041574Polymorphismp.LEU2332PRON/A
Swiss-ProtVAR_010865Diseasep.LEU2656PROAtaxia telangiectasia (AT)
Swiss-ProtVAR_010888Polymorphismp.LEU2890VALN/A
Swiss-ProtVAR_041554Polymorphismp.LEU546VALN/A
Swiss-ProtVAR_010824Polymorphismp.LYS1454ASNN/A
Swiss-ProtVAR_010895Polymorphismp.LYS3018ASNN/A
Swiss-ProtVAR_010801Diseasep.LYS224GLUAtaxia telangiectasia (AT)
Swiss-ProtVAR_041561Polymorphismp.MET1321ILEN/A
Swiss-ProtVAR_041568Polymorphismp.MET1916ILEN/A
Swiss-ProtVAR_010817Polymorphismp.MET1040VALN/A
Swiss-ProtVAR_010879Diseasep.PHE2827CYSAtaxia telangiectasia (AT)
Swiss-ProtVAR_010875Polymorphismp.PHE2732LEUN/A
Swiss-ProtVAR_041555Polymorphismp.PHE582LEUN/A
Swiss-ProtVAR_010814Polymorphismp.PHE858LEUN/A
Swiss-ProtVAR_010825Polymorphismp.PHE1463SERN/A
Swiss-ProtVAR_010808Diseasep.PHE570SERAtaxia telangiectasia (AT)
Swiss-ProtVAR_010818Polymorphismp.PRO1054ARGN/A
Swiss-ProtVAR_010827Diseasep.PRO1566ARGAtaxia telangiectasia (AT)
Swiss-ProtVAR_041582Polymorphismp.PRO2842ARGN/A
Swiss-ProtVAR_010880Diseasep.PRO2829LEUAtaxia telangiectasia (AT)
Swiss-ProtVAR_010802Diseasep.PRO292LEUAtaxia telangiectasia (AT)
Swiss-ProtVAR_041563Polymorphismp.PRO1382SERN/A
Swiss-ProtVAR_041557Polymorphismp.PRO872SERN/A
Swiss-ProtVAR_010830Diseasep.SER1691ARGAtaxia telangiectasia (AT)
Swiss-ProtVAR_010883Diseasep.SER2855ARGAtaxia telangiectasia (AT)
Swiss-ProtVAR_056680Polymorphismp.SER788ARGN/A
Swiss-ProtVAR_041571Polymorphismp.SER1983ASNN/A
Swiss-ProtVAR_010844Diseasep.SER2218CYSAtaxia telangiectasia (AT)
Swiss-ProtVAR_010798Polymorphismp.SER49CYSN/A
Swiss-ProtVAR_041576Polymorphismp.SER2408LEUN/A
Swiss-ProtVAR_041560Polymorphismp.SER1179PHEN/A
Swiss-ProtVAR_041548Polymorphismp.SER333PHEN/A
Swiss-ProtVAR_010810Polymorphismp.SER707PRON/A
Swiss-ProtVAR_041580Polymorphismp.THR2666ALAN/A
Swiss-ProtVAR_041559Polymorphismp.THR935ALAN/A
Swiss-ProtVAR_010837Polymorphismp.THR1953ARGN/A
Swiss-ProtVAR_010831Diseasep.THR1743ILEAtaxia telangiectasia (AT)
Swiss-ProtVAR_010856Polymorphismp.THR2438ILEN/A
Swiss-ProtVAR_056691Polymorphismp.THR2640ILEN/A
Swiss-ProtVAR_056689Polymorphismp.THR2335LYSN/A
Swiss-ProtVAR_056682Polymorphismp.THR935METN/A
Swiss-ProtVAR_010850Polymorphismp.THR2396SERN/A
Swiss-ProtVAR_056679Polymorphismp.THR761SERN/A
Swiss-ProtVAR_010860Diseasep.TRP2491ARGAtaxia telangiectasia (AT)
Swiss-ProtVAR_010858Diseasep.TYR2470ASPAtaxia telangiectasia (AT)
Swiss-ProtVAR_041565Polymorphismp.TYR1475CYSN/A
Swiss-ProtVAR_041570Polymorphismp.TYR1961CYSN/A
Swiss-ProtVAR_010804Polymorphismp.TYR332CYSN/A
Swiss-ProtVAR_010828Polymorphismp.VAL1570ALAN/A
Swiss-ProtVAR_041551Polymorphismp.VAL410ALAN/A
Swiss-ProtVAR_010836Diseasep.VAL1913GLYAtaxia telangiectasia (AT)
Swiss-ProtVAR_010854Diseasep.VAL2424GLYAtaxia telangiectasia (AT)
Swiss-ProtVAR_010841Polymorphismp.VAL2079ILEN/A
Swiss-ProtVAR_056687Polymorphismp.VAL1729LEUN/A
Swiss-ProtVAR_010800Polymorphismp.VAL182LEUN/A



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