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Results for the Protein: P49419
294862544
501

AL7A1_HUMAN RecName: Full=Alpha-aminoadipic semialdehyde dehydrogenase; Short=Alpha-AASA dehydrogenase; AltName: Full=Aldehyde dehydrogenase family 7 member A1; AltName: Full=Antiquitin-1; AltName: Full=Betaine aldehyde dehydrogenase; AltName: Full=Delta1-piperideine-6-carboxylate dehydrogenase; Short=P6c dehydrogenase; Flags: Precursor

Known Diseases associated with this Protein:
  EPILEPSY, PYRIDOXINE-DEPENDENT
  PYRIDOXINE-DEPENDENT EPILEPSY (PDE)
13
2
5
2
8
Tips:
 The Domains on the Default View are decided by the Domain's E-Value.

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ALDH_PutA-P5CDH - cd07125
COG4230 - COG4230
ALDH_F4-17_P5CDH - cd07123
ALDH_P5CDH - cd07083
ALDH_PutA-P5CDH-RocA - cd07124
ALDH_F16 - cd07111
ALDH_ALD2-YMR170C - cd07144
ALDH_AldA_AN0554 - cd07143
ALDH_F1L_FTFDH - cd07140
ALDH_F2BC - cd07142
ALDH_F1-2_Ald2-like - cd07091
ALDH_F11_NP-GAPDH - cd07082
PutA - COG1012
ALDH_F1AB_F2_RALDH1 - cd07141
ALDH_ACDHII-AcoD - cd07116
ALDH_KGSADH-YcbD - cd07097
ALDH_ACDHII_AcoD-lik - cd07559
ALDH_F7_AASADH - cd07130
ALDH_PADH_NahF - cd07113
ALDH_F12_P5CDH - cd07126
ALDH_StaphAldA1 - cd07117
ALDH_F7_AASADH-like - cd07086
ALDH_F6_MMSDH - cd07085
ALDH_CddD_SSP0762 - cd07138
ALDH_MaoC-N - cd07128
ALDH_AldA-Rv0768 - cd07139
ALDH_LactADH-AldA - cd07088
ALDH_BADH-GbsA - cd07119
ALDH_AldH-CAJ73105 - cd07131
ALDH_HBenzADH - cd07151
Aldedh - pfam00171
ALDH_GABALDH-PuuC - cd07112
ALDH_VaniDH_like - cd07150
ALDH_PhpJ - cd07146
ALDH_y4uC - cd07149
ALDH_F21_LactADH-lik - cd07094
ALDH_RL0313 - cd07148
ALDH_LactADH_F420-Bi - cd07145
ALDH_F21_RNP123 - cd07147
ALDH_PsfA-ACA09737 - cd07120
ALDH_DhaS - cd07114
ALDH_HMSADH_HapE - cd07115
ALDH_AAS00426 - cd07109
ALDH_F10_BADH - cd07110
ALDH_F8_HMSADH - cd07093
ALDH_F9_TMBADH - cd07090
ALDH_PhdK-like - cd07107
ALDH_CddD-AldA-like - cd07089
ALDH_MGR_2402 - cd07108
ALDH_F15-22 - cd07098
ALDH_SSADH2_GabD2 - cd07101
ALDH_EDX86601 - cd07102
ALDH_DDALDH - cd07099
ALDH_SNDH - cd07118
ALDH_AldA-AAD23400 - cd07106
ALDH_F5_SSADH_GabD - cd07103
ALDH_ABALDH-YdcW - cd07092
ALDH_BenzADH - cd07152
ALDH_F14-YMR110C - cd07135
ALDH_BenzADH-like - cd07104
ALDH_SGSD_AstD - cd07095
ALDH_SaliADH - cd07105
ALDH_F3FHI - cd07137
ALDH_SSADH1_GabD1 - cd07100
ALDH_KGSADH-like - cd07084
ALDH_KGSADH - cd07129
ALDH_CALDH_CalB - cd07133
ALDH_F3AB - cd07132
ALDH - cd07078
ALDH_F3-13-14_CALDH- - cd07087
ALDH-SF - cd06534
ALDH_AlkH-like - cd07134


Swiss-Prot Protein: P49419
Identical to: NP_001173
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
ALDH_PutA-P5CDHcd071255.9e-1510495
ALDH_F4-17_P5CDHcd071237e-0833473
ALDH_P5CDHcd070834.4e-1835526
ALDH_PutA-P5CDH-RocAcd071248.5e-2735526
ALDH_F16cd071114.6e-1837524
ALDH_ALD2-YMR170Ccd071442.2e-1845517
ALDH_F1L_FTFDHcd071404.9e-6446526
ALDH_AldA_AN0554cd071431.6e-2246526
ALDH_F2BCcd071423.6e-2448523
ALDH_F1-2_Ald2-likecd070913.9e-2449524
ALDH_F11_NP-GAPDHcd070821.7e-2350525
ALDH_KGSADH-YcbDcd070972e-5651517
ALDH_ACDHII-AcoDcd071163.6e-3951526
ALDH_F1AB_F2_RALDH1cd071414.1e-2351525
PutACOG10129.2e-14551529
ALDH_F7_AASADH-likecd0708653527
ALDH_PADH_NahFcd071139.9e-2253526
ALDH_StaphAldA1cd071172e-3853526
ALDH_F12_P5CDHcd071265.4e-0653497
ALDH_F7_AASADHcd0713053527
ALDH_ACDHII_AcoD-likcd075591.7e-3153526
ALDH_F6_MMSDHcd070851.9e-2255484
ALDH_LactADH-AldAcd070882.2e-3656524
ALDH_BADH-GbsAcd071197.2e-2356495
ALDH_AldH-CAJ73105cd071316.1e-7556527
ALDH_CddD_SSP0762cd071381.5e-2156509
ALDH_AldA-Rv0768cd071393.5e-2256524
ALDH_MaoC-Ncd071288.9e-0756503
ALDH_HBenzADHcd071511.3e-2857518
ALDH_GABALDH-PuuCcd071121.2e-2163524
ALDH_F21_LactADH-likcd070941.7e-3066524
ALDH_LactADH_F420-Bicd071451.3e-3466524
ALDH_F21_RNP123cd071471.2e-2266507
ALDH_RL0313cd071481.7e-1266520
ALDH_VaniDH_likecd071508.8e-3166524
ALDH_y4uCcd071491.4e-2566507
ALDH_PhpJcd071462.7e-2266524
ALDH_CddD-AldA-likecd070892.5e-2768524
ALDH_F9_TMBADHcd070902.1e-2668527
ALDH_F8_HMSADHcd070932.3e-2568523
ALDH_PhdK-likecd071071.5e-2468526
ALDH_MGR_2402cd071083.4e-2368524
ALDH_F10_BADHcd071101.3e-2068518
ALDH_HMSADH_HapEcd071157.8e-3668526
ALDH_AAS00426cd071096.1e-2568524
ALDH_PsfA-ACA09737cd071202.2e-2668524
ALDH_DhaScd071142.9e-2968524
ALDH_DDALDHcd070996.3e-2469524
ALDH_SSADH2_GabD2cd071015.8e-1869524
ALDH_EDX86601cd071021.8e-1769483
ALDH_F15-22cd070986.3e-2069512
ALDH_ABALDH-YdcWcd070922.1e-2371523
ALDH_F5_SSADH_GabDcd071038.8e-4471524
ALDH_AldA-AAD23400cd071062.3e-2971524
ALDH_SNDHcd071188.8e-2671524
ALDH_BenzADHcd071526.7e-2574524
ALDH_F14-YMR110Ccd071351e-0882518
ALDH_SGSD_AstDcd070955.5e-2287512
ALDH_BenzADH-likecd071041.2e-4287524
ALDH_SaliADHcd071051.5e-2087524
ALDH_KGSADH-likecd070842e-0988524
ALDH_SSADH1_GabD1cd071007.7e-2788518
ALDH_KGSADHcd071290.0009288482
ALDH_F3FHIcd071376.3e-0588500
ALDHcd070782e-17589524
ALDH_F3-13-14_CALDH-cd070876.3e-0889461
ALDH_F3ABcd071321.8e-0589465
ALDH_CALDH_CalBcd071332.9e-0689461
ALDH-SFcd065347e-16093524
ALDH_AlkH-likecd071345.6e-0696497
COG4230COG42303.6e-0610535
Aldedhpfam001712.9e-15859522

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_031718Diseasep.ALA199VALPyridoxine-dependent epilepsy (PDE)
Swiss-ProtVAR_069187Diseasep.ARG335GLNPyridoxine-dependent epilepsy (PDE)
Swiss-ProtVAR_069186Diseasep.ASN301ILEPyridoxine-dependent epilepsy (PDE)
Swiss-ProtVAR_031719Diseasep.GLU427GLNPyridoxine-dependent epilepsy (PDE)
Swiss-ProtVAR_069185Diseasep.GLY291GLUPyridoxine-dependent epilepsy (PDE)
Swiss-ProtVAR_069184Diseasep.GLY202VALPyridoxine-dependent epilepsy (PDE)
dbSNPrs12514417 Polymorphismp.LYS439GLNN/A
Swiss-ProtVAR_069189Diseasep.SER458ASNPyridoxine-dependent epilepsy (PDE)
dbSNPrs2306618 Polymorphismp.THR412ALAN/A
Swiss-ProtVAR_069188Diseasep.VAL395GLYPyridoxine-dependent epilepsy (PDE)
OMIM107323.0005 Diseasep.ALA171VALEPILEPSY, PYRIDOXINE-DEPENDENT
OMIM107323.0002 Diseasep.ARG82TEREPILEPSY, PYRIDOXINE-DEPENDENT
OMIM107323.0008 Diseasep.ASN273ILEEPILEPSY, PYRIDOXINE-DEPENDENT
OMIM107323.0001 Diseasep.GLU399GLNEPILEPSY, PYRIDOXINE-DEPENDENT
OMIM107323.0007 Diseasep.TYR380TEREPILEPSY, PYRIDOXINE-DEPENDENT



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