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Results for the Protein: P51649
7531278

SSDH_HUMAN RecName: Full=Succinate-semialdehyde dehydrogenase, mitochondrial; AltName: Full=Aldehyde dehydrogenase family 5 member A1; AltName: Full=NAD(+)-dependent succinic semialdehyde dehydrogenase; Flags: Precursor

Known Diseases associated with this Protein:
  SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY
  SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY (SSADHD)
15
6
3
3
15
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_F16 - cd07111
ALDH_F4-17_P5CDH - cd07123
ALDH_PutA-P5CDH-RocA - cd07124
ALDH_P5CDH - cd07083
ALDH_AldA_AN0554 - cd07143
ALDH_F1AB_F2_RALDH1 - cd07141
ALDH_F1L_FTFDH - cd07140
ALDH_F2BC - cd07142
ALDH_F1-2_Ald2-like - cd07091
ALDH_F11_NP-GAPDH - cd07082
PutA - COG1012
ALDH_KGSADH-YcbD - cd07097
ALDH_F6_MMSDH - cd07085
ALDH_MaoC-N - cd07128
ALDH_ACDHII_AcoD-lik - cd07559
ALDH_ACDHII-AcoD - cd07116
ALDH_F7_AASADH-like - cd07086
ALDH_AldA-Rv0768 - cd07139
ALDH_CddD_SSP0762 - cd07138
ALDH_F12_P5CDH - cd07126
ALDH_F7_AASADH - cd07130
ALDH_AldH-CAJ73105 - cd07131
ALDH_ALD2-YMR170C - cd07144
ALDH_BADH-GbsA - cd07119
ALDH_StaphAldA1 - cd07117
ALDH_PADH_NahF - cd07113
ALDH_LactADH-AldA - cd07088
ALDH_HBenzADH - cd07151
Aldedh - pfam00171
ALDH_GABALDH-PuuC - cd07112
ALDH_y4uC - cd07149
ALDH_RL0313 - cd07148
ALDH_VaniDH_like - cd07150
ALDH_LactADH_F420-Bi - cd07145
ALDH_F21_LactADH-lik - cd07094
ALDH_F21_RNP123 - cd07147
ALDH_PhpJ - cd07146
ALDH_AAS00426 - cd07109
ALDH_MGR_2402 - cd07108
ALDH_HMSADH_HapE - cd07115
ALDH_DhaS - cd07114
ALDH_F10_BADH - cd07110
ALDH_PhdK-like - cd07107
ALDH_CddD-AldA-like - cd07089
ALDH_ABALDH-YdcW - cd07092
ALDH_F8_HMSADH - cd07093
ALDH_AldA-AAD23400 - cd07106
ALDH_F5_SSADH_GabD - cd07103
ALDH_F9_TMBADH - cd07090
ALDH_F15-22 - cd07098
ALDH_DDALDH - cd07099
ALDH_SSADH2_GabD2 - cd07101
ALDH_PsfA-ACA09737 - cd07120
ALDH_EDX86601 - cd07102
ALDH_SNDH - cd07118
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 - cd07129
ALDH_KGSADH-like - cd07084
ALDH_AlkH-like - cd07134
ALDH - cd07078
ALDH_F3AB - cd07132
ALDH_F3-13-14_CALDH- - cd07087
ALDH_YwdH-P39616 - cd07136
ALDH_CALDH_CalB - cd07133
ALDH-SF - cd06534


Swiss-Prot Protein: P51649
Identical to: NP_001071
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
ALDH_PutA-P5CDHcd071251.7e-191527
ALDH_F16cd071111.1e-6636532
ALDH_F4-17_P5CDHcd071232.1e-0639498
ALDH_PutA-P5CDH-RocAcd071241.5e-3141534
ALDH_P5CDHcd070835.4e-2950534
ALDH_F1AB_F2_RALDH1cd071413.5e-7155533
ALDH_AldA_AN0554cd071434e-6055534
ALDH_F1L_FTFDHcd071405.8e-10156534
ALDH_F1-2_Ald2-likecd070915.4e-11558532
ALDH_F2BCcd071428.2e-8158532
ALDH_F11_NP-GAPDHcd070821.5e-4660533
ALDH_F6_MMSDHcd070857.5e-3261519
ALDH_KGSADH-YcbDcd070979.5e-9361530
ALDH_MaoC-Ncd071281.1e-0761483
PutACOG10129.1e-22861535
ALDH_ACDHII-AcoDcd071163.8e-7962532
ALDH_ACDHII_AcoD-likcd075593.8e-8362532
ALDH_F7_AASADH-likecd070866.5e-6063533
ALDH_F12_P5CDHcd071260.0001863511
ALDH_F7_AASADHcd071301.5e-2163520
ALDH_AldH-CAJ73105cd071316.1e-8763533
ALDH_CddD_SSP0762cd071386.4e-10063532
ALDH_AldA-Rv0768cd071392.5e-9063532
ALDH_LactADH-AldAcd070887.1e-14264532
ALDH_PADH_NahFcd071133e-5664532
ALDH_StaphAldA1cd071173.5e-7664532
ALDH_BADH-GbsAcd071191.2e-8564529
ALDH_ALD2-YMR170Ccd071449.1e-5064530
ALDH_HBenzADHcd071515.6e-4867530
ALDH_GABALDH-PuuCcd071126.4e-8773532
ALDH_F21_LactADH-likcd070942.8e-11376532
ALDH_LactADH_F420-Bicd071451.1e-12176532
ALDH_PhpJcd071461.1e-6376531
ALDH_F21_RNP123cd071479e-8476532
ALDH_RL0313cd071486.3e-2176532
ALDH_y4uCcd071491.3e-9876532
ALDH_VaniDH_likecd071503.3e-13176532
ALDH_CddD-AldA-likecd070891.8e-11578532
ALDH_F9_TMBADHcd070902.3e-7678533
ALDH_ABALDH-YdcWcd070922.2e-8978532
ALDH_F8_HMSADHcd070935.8e-12678532
ALDH_F5_SSADH_GabDcd0710378532
ALDH_AldA-AAD23400cd071067.3e-9678532
ALDH_PhdK-likecd071077.5e-5178532
ALDH_F10_BADHcd071101.8e-10078532
ALDH_AAS00426cd071093.6e-8778532
ALDH_MGR_2402cd071086.3e-5878532
ALDH_HMSADH_HapEcd071157e-10278534
ALDH_DhaScd071142.5e-11878532
ALDH_F15-22cd070983.6e-4579523
ALDH_DDALDHcd070992e-9479532
ALDH_SSADH2_GabD2cd071013.3e-4079532
ALDH_PsfA-ACA09737cd071203.1e-8080532
ALDH_EDX86601cd071024.6e-3681530
ALDH_SNDHcd071182.8e-9881532
ALDH_BenzADHcd071523.4e-6784532
ALDH_F14-YMR110Ccd071352.2e-2295526
ALDH_SGSD_AstDcd070953.7e-2797522
ALDH_SaliADHcd071055.4e-8797532
ALDH_BenzADH-likecd071041.1e-12497532
ALDH_KGSADH-likecd070848.7e-1098532
ALDH_SSADH1_GabD1cd071003.2e-10198532
ALDH_KGSADHcd071295.9e-1298493
ALDH_F3FHIcd071375.4e-1498532
ALDHcd070781.6e-20599532
ALDH_F3-13-14_CALDH-cd070877.8e-2199532
ALDH_F3ABcd071324.2e-1799533
ALDH_AlkH-likecd071341.6e-2599526
ALDH_YwdH-P39616cd071361.9e-15100528
ALDH-SFcd065343.2e-183103532
ALDH_CALDH_CalBcd071333.6e-22103517
COG4230COG42304.2e-098533
Aldedhpfam001711.5e-21469530

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_026228Polymorphismp.ALA237SERN/A
Swiss-ProtVAR_026205Diseasep.ASN335LYSSuccinic semialdehyde dehydrogenase deficiency (SSADHD)
Swiss-ProtVAR_026203Diseasep.ASN255SERSuccinic semialdehyde dehydrogenase deficiency (SSADHD)
Swiss-ProtVAR_069047Polymorphismp.ASN372SERN/A
Swiss-ProtVAR_026199Diseasep.CYS93PHESuccinic semialdehyde dehydrogenase deficiency (SSADHD)
Swiss-ProtVAR_026201Diseasep.CYS223TYRSuccinic semialdehyde dehydrogenase deficiency (SSADHD)
Swiss-ProtVAR_026200Diseasep.GLY176ARGSuccinic semialdehyde dehydrogenase deficiency (SSADHD)
dbSNPrs4646832 Polymorphismp.GLY36ARGN/A
Swiss-ProtVAR_026210Diseasep.GLY533ARGSuccinic semialdehyde dehydrogenase deficiency (SSADHD)
Swiss-ProtVAR_026208Diseasep.GLY409ASPSuccinic semialdehyde dehydrogenase deficiency (SSADHD)
Swiss-ProtVAR_026204Diseasep.GLY268GLUSuccinic semialdehyde dehydrogenase deficiency (SSADHD)
dbSNPrs2760118 Polymorphismp.HIS180TYRN/A
Swiss-ProtVAR_026207Diseasep.PRO382GLNSuccinic semialdehyde dehydrogenase deficiency (SSADHD)
dbSNPrs3765310 Polymorphismp.PRO182LEUN/A
Swiss-ProtVAR_026206Diseasep.PRO382LEUSuccinic semialdehyde dehydrogenase deficiency (SSADHD)
Swiss-ProtVAR_026202Diseasep.THR233METSuccinic semialdehyde dehydrogenase deficiency (SSADHD)
Swiss-ProtVAR_026209Diseasep.VAL487GLUSuccinic semialdehyde dehydrogenase deficiency (SSADHD)
Swiss-ProtVAR_026229Polymorphismp.VAL406ILEN/A
OMIM610045.0004 Diseasep.ARG399TERSUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY
OMIM610045.0005 Diseasep.GLY396ASPSUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY
OMIM610045.0003 Diseasep.TRP204TERSUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY



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