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Results for the Protein: P47895
52788258
220

AL1A3_HUMAN RecName: Full=Aldehyde dehydrogenase family 1 member A3; AltName: Full=Aldehyde dehydrogenase 6; AltName: Full=Retinaldehyde dehydrogenase 3; Short=RALDH-3; Short=RalDH3

Known Diseases associated with this Protein:
  MICROPHTHALMIA, ISOLATED 8
  MICROPHTHALMIA, ISOLATED, 8 (MCOP8)
8
1
4
0
5
Tips:
 The Domains on the Default View are decided by the Domain's E-Value.

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Default View:

ALDH_PutA-P5CDH - cd07125
COG4230 - COG4230
ALDH_PutA-P5CDH-RocA - cd07124
ALDH_F4-17_P5CDH - cd07123
ALDH_P5CDH - cd07083
ALDH_F16 - cd07111
ALDH_AldA_AN0554 - cd07143
ALDH_F1AB_F2_RALDH1 - cd07141
ALDH_ALD2-YMR170C - cd07144
ALDH_F1L_FTFDH - cd07140
ALDH_F1-2_Ald2-like - cd07091
ALDH_F2BC - cd07142
ALDH_F11_NP-GAPDH - cd07082
PutA - COG1012
ALDH_KGSADH-YcbD - cd07097
ALDH_F6_MMSDH - cd07085
ALDH_ACDHII_AcoD-lik - cd07559
ALDH_ACDHII-AcoD - cd07116
ALDH_StaphAldA1 - cd07117
ALDH_AldA-Rv0768 - cd07139
ALDH_CddD_SSP0762 - cd07138
ALDH_F7_AASADH-like - cd07086
ALDH_F7_AASADH - cd07130
ALDH_AldH-CAJ73105 - cd07131
ALDH_F12_P5CDH - cd07126
ALDH_MaoC-N - cd07128
ALDH_PADH_NahF - cd07113
ALDH_LactADH-AldA - cd07088
ALDH_BADH-GbsA - cd07119
ALDH_HBenzADH - cd07151
Aldedh - pfam00171
ALDH_GABALDH-PuuC - cd07112
ALDH_y4uC - cd07149
ALDH_VaniDH_like - cd07150
ALDH_PhpJ - cd07146
ALDH_RL0313 - cd07148
ALDH_LactADH_F420-Bi - cd07145
ALDH_F21_LactADH-lik - cd07094
ALDH_F21_RNP123 - cd07147
ALDH_DhaS - cd07114
ALDH_HMSADH_HapE - cd07115
ALDH_PsfA-ACA09737 - cd07120
ALDH_AAS00426 - cd07109
ALDH_F10_BADH - cd07110
ALDH_F9_TMBADH - cd07090
ALDH_ABALDH-YdcW - cd07092
ALDH_AldA-AAD23400 - cd07106
ALDH_F8_HMSADH - cd07093
ALDH_CddD-AldA-like - cd07089
ALDH_MGR_2402 - cd07108
ALDH_PhdK-like - cd07107
ALDH_EDX86601 - cd07102
ALDH_SSADH2_GabD2 - cd07101
ALDH_DDALDH - cd07099
ALDH_F15-22 - cd07098
ALDH_F5_SSADH_GabD - cd07103
ALDH_SNDH - cd07118
ALDH_BenzADH - cd07152
ALDH_F14-YMR110C - cd07135
ALDH_SGSD_AstD - cd07095
ALDH_SaliADH - cd07105
ALDH_BenzADH-like - cd07104
ALDH_F3FHI - cd07137
ALDH_KGSADH - cd07129
ALDH_F20_ACDH_EutE-l - cd07081
ALDH_KGSADH-like - cd07084
ALDH_SSADH1_GabD1 - cd07100
ALDH_AlkH-like - cd07134
ALDH_F3-13-14_CALDH- - cd07087
ALDH_F3AB - cd07132
ALDH - cd07078
ALDH_CALDH_CalB - cd07133
ALDH-like - cd07077
ALDH-SF - cd06534
ALDH_YwdH-P39616 - cd07136


Swiss-Prot Protein: P47895
Identical to: NP_000684
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
ALDH_PutA-P5CDHcd071257.2e-204507
ALDH_PutA-P5CDH-RocAcd071241.6e-906507
ALDH_F4-17_P5CDHcd071233.3e-158486
ALDH_P5CDHcd070832.4e-6715507
ALDH_F16cd071111.5e-13818505
ALDH_AldA_AN0554cd071431.4e-26225507
ALDH_F1AB_F2_RALDH1cd0714126506
ALDH_ALD2-YMR170Ccd071448.3e-23328507
ALDH_F1L_FTFDHcd071408.4e-19628507
ALDH_F1-2_Ald2-likecd0709129505
ALDH_F2BCcd071422.8e-27929505
ALDH_F11_NP-GAPDHcd070821.4e-8531506
ALDH_F6_MMSDHcd070856.3e-4932507
ALDH_KGSADH-YcbDcd070973e-14032505
PutACOG10122.4e-24132510
ALDH_ACDHII-AcoDcd071162.4e-13733507
ALDH_StaphAldA1cd071176.3e-17133507
ALDH_ACDHII_AcoD-likcd075591e-17633507
ALDH_F7_AASADH-likecd070865e-10034508
ALDH_F7_AASADHcd071303.1e-2634469
ALDH_AldH-CAJ73105cd071315e-12534508
ALDH_CddD_SSP0762cd071383e-14934505
ALDH_AldA-Rv0768cd071392.3e-11934505
ALDH_LactADH-AldAcd070882.3e-14035505
ALDH_PADH_NahFcd071135.5e-11935507
ALDH_BADH-GbsAcd071191.3e-19835510
ALDH_F12_P5CDHcd071268.7e-0735490
ALDH_MaoC-Ncd071281.8e-0735461
ALDH_HBenzADHcd071517.6e-7738507
ALDH_GABALDH-PuuCcd071125.7e-20046505
ALDH_F21_LactADH-likcd070942.3e-11849505
ALDH_LactADH_F420-Bicd071453.7e-14249505
ALDH_PhpJcd071461.4e-7749505
ALDH_F21_RNP123cd071476.4e-7049505
ALDH_RL0313cd071481.6e-2149505
ALDH_VaniDH_likecd071502e-13749505
ALDH_y4uCcd071495.4e-10849505
ALDH_F9_TMBADHcd070902.1e-16351508
ALDH_ABALDH-YdcWcd070922.5e-15451505
ALDH_F8_HMSADHcd070931e-19351505
ALDH_CddD-AldA-likecd070891.2e-13651505
ALDH_PhdK-likecd071072.8e-13851507
ALDH_MGR_2402cd071083.6e-12751505
ALDH_AldA-AAD23400cd071063.2e-14451505
ALDH_AAS00426cd071091.8e-15351505
ALDH_DhaScd071142.6e-19951505
ALDH_HMSADH_HapEcd071156e-22051507
ALDH_F10_BADHcd071103.4e-16751505
ALDH_PsfA-ACA09737cd071201.1e-9651505
ALDH_F15-22cd070985.3e-4552507
ALDH_DDALDHcd070997.4e-8852505
ALDH_SSADH2_GabD2cd071011.5e-3652505
ALDH_EDX86601cd071022.2e-6652505
ALDH_F5_SSADH_GabDcd071031.8e-15753505
ALDH_SNDHcd071181e-14654505
ALDH_BenzADHcd071523.2e-8857505
ALDH_SGSD_AstDcd070952.3e-2770503
ALDH_BenzADH-likecd071048.4e-13770505
ALDH_SaliADHcd071053e-10170505
ALDH_F14-YMR110Ccd071354.8e-2370505
ALDH_F20_ACDH_EutE-lcd070815.9e-0571503
ALDH_KGSADH-likecd070841e-1871505
ALDH_SSADH1_GabD1cd071009.7e-9071505
ALDH_KGSADHcd071292.9e-0771470
ALDH_F3FHIcd071371.7e-1671505
ALDHcd070782.6e-24072505
ALDH_F3-13-14_CALDH-cd070873.7e-2372505
ALDH_F3ABcd071321.5e-2072498
ALDH_AlkH-likecd071342.2e-2572505
ALDH_CALDH_CalBcd071335.8e-2273481
ALDH-SFcd065342.4e-22476505
ALDH-likecd070770.0002976505
ALDH_YwdH-P39616cd071365.5e-20104506
COG4230COG42305e-105512
Aldedhpfam001717.7e-26840503

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_069325Diseasep.ALA493PROMicrophthalmia, isolated, 8 (MCOP8)
Swiss-ProtVAR_069323Diseasep.ALA145VALMicrophthalmia, isolated, 8 (MCOP8)
Swiss-ProtVAR_069322Diseasep.ARG89CYSMicrophthalmia, isolated, 8 (MCOP8)
Swiss-ProtVAR_069324Diseasep.ILE369PHEMicrophthalmia, isolated, 8 (MCOP8)
Swiss-ProtVAR_019706Polymorphismp.MET386VALN/A
OMIM600463.0002 Diseasep.ALA493PROMICROPHTHALMIA, ISOLATED 8
OMIM600463.0001 Diseasep.ARG89CYSMICROPHTHALMIA, ISOLATED 8
OMIM600463.0004 Diseasep.LYS190TERMICROPHTHALMIA, ISOLATED 8
OMIM600463.0005 Diseasep.LYS389TERMICROPHTHALMIA, ISOLATED 8



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