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pfam07047: OPA3 
Optic atrophy 3 protein (OPA3)
This family consists of several optic atrophy 3 (OPA3) proteins. OPA3 deficiency causes type III 3-methylglutaconic aciduria (MGA) in humans. This disease manifests with early bilateral optic atrophy, spasticity, extrapyramidal dysfunction, ataxia, and cognitive deficits, but normal longevity.
Statistics
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PSSM-Id: 254036
View PSSM: pfam07047
Aligned: 19 rows
Threshold Bit Score: 141.63
Threshold Setting Gi: 156057913
Created: 29-Mar-2013
Updated: 4-Apr-2013
Structure
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Aligned Rows:

pfam07047 is a member of the superfamily cl06196.
Sequence Alignment
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Format: Row Display: Color Bits: Type Selection:
                         10        20        30        40        50        60        70        80
                 ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*....|
gi 124447511   3 PFKKLAALFIRTFSKPVANIIKRYALNNNNNRSfgrrivrnSfIFLGNKYHAFDTYLERASIG--QtNQQFFIKPLTDEA 80
gi 122053761   3 PAYKVLCVFIRQISKPFANYLKRRAAHNERFRN--------IcIYFGNKSFAFERSISRRFYN--SeVTECDKVTLSPEK 72
gi 82252153    7 PIAKLLYLGVRQLSKPVANRIKATARTSEFFRNy-------VcLPPAQLYHWIEMRTKMKIMG--L--RGSTIKPLNEDA 75
gi 82180989    7 PIAKLLYLGIRQISKPLANRIKAGARRSEFFRTy-------VcLPPAQVYHWVEMRSKMRIMG--F--RGAVIKPLNEDA 75
gi 122065801   7 PLAKLALLAIKHISKPIGNLIKQTAKKNKSFKTl-------VvAPPARLYHVIDVRSKMWMLG--L-GQPRLIPPLTDAM 76
gi 121991117   7 PAAKLGVLAIKQISKPIANVLKSNAKSSPFFRKy-------IcMPPAQFYNWVEVKTKMWALN--MgGRSVNVPPLNEAM 77
gi 122094951   7 PAAKLGVLAMKQISKPIAALLKERAKNSPFFRKy-------VcMPPAQFYNWMEVKTKMWAMN--L-GKPTNVPVLNEAM 76
gi 74854035    4 PLLKVGSLLIKSLAKPLSKQIKIRASKSPIFHDr-------V-VRGARLWHKLDLKLTKFNGD--TtRKPV---DLNVNA 70
gi 156384835   7 PLFKLMTLGVKQVSKPIANAIKSGAKQSPFFRKy-------VcVLPGQGFHWLETTVKMKLLG--H-VGPSHIKPLNEQV 76
gi 156083445   3 PAFKLLTVFIKQISKPLASYLKKRASKNERFRKl--------cVTIGNRSYAFDRYVTRRFYNpeQ-GEPDTTPWISPEK 73
                         90       100       110       120       130       140
                 ....*....|....*....|....*....|....*....|....*....|....*....|....
gi 124447511  81 AFMKGTDLFSDLFIYACVLGLPLYEIMRQSNESAKKEAIQDEKLHKLSKEVEELELIESKIKEK 144
gi 122053761  73 SVNIGSELLGECFIFTVAAGLITAEYVRGALKESRKEYRLKQRLDNIDSRQGELQKLINQEVTR 136
gi 82252153   76 AAELGAELLGETIIFLIGGGCMVLEYTRQSVNSRRKEEELNETIVGLQTELTELKLTTETLDAQ 139
gi 82180989   76 AAELGAELLGEAIIFLIGGGCMVAEYSRQSANSHRKEEEMEARLGSMEAEIARLGLLTEELETR 139
gi 122065801  77 TIQMGGDILGEMVIFIIGATLIVGEFKRQAKNDRLKHEKHKMHREKLEERIGNLTNKVARQTKE 140
gi 121991117  78 AIELGANLLGEFIIFTIGAGLLIFEYSRQSIKETKKTEELQMEKMQMTNTLTEMNFRLERQDAQ 141
gi 122094951  77 AIELGANLLGEIVIFTIGAGLLLLEYQRQVRKEANKEEMVMQEKLELQATINELIFQVQRQDTQ 140
gi 74854035   71 AIDLGTEIVSEAFLLSVAIGLLLYETSRSSEKDKKKEEALQNRFKNLEEK---LEVQQETINNL 131
gi 156384835  77 AVELTAEMLGEGFIFGVGVATLLFEYRRSAKKEEQKEAAQNSKILALQSQVSDLGIAMEVQAAE 140
gi 156083445  74 SVVIGTELFGEIIVFGVATLLVLSEYARGIRKESKKEAKLQERLGTLEAQQSRIEFLIKDEVER 137
Citing CDD
Marchler-Bauer A et al. (2013), "CDD: conserved domains and protein three-dimensional structure.", Nucleic Acids Res. 41(D1):D384-52.
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