| Entry |
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| Gene name |
DARS2, ASPRS, LBSL, MT-ASPRS, RP3-383J4.2
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| Definition |
aspartyl-tRNA synthetase 2, mitochondrial (EC:6.1.1.12)
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| Orthology |
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| Organism |
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| Pathway |
| Aminoacyl-tRNA biosynthesis |
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| Module |
| Aminoacyl-tRNA biosynthesis, eukaryotes |
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| Disease |
| Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation (LBSL) |
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| Class |
Genetic Information Processing; Translation; Aminoacyl-tRNA biosynthesis [PATH: hsa00970]
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| SSDB |
   |
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| Motif |
 |
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| Other DBs |
NCBI-GI: NCBI-GeneID: OMIM: HGNC: HPRD: Ensembl: Vega: UniProt: |
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| Structure |
PDB: |
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| Position |
1q25.1
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| AA seq |
645 aa  
MYFPSWLSQLYRGLSRPIRRTTQPIWGSLYRSLLQSSQRRIPEFSSFVVRTNTCGELRSS
HLGQEVTLCGWIQYRRQNTFLVLRDFDGLVQVIIPQDESAASVKKILCEAPVESVVQVSG
TVISRPAGQENPKMPTGEIEIKVKTAELLNACKKLPFEIKNFVKKTEALRLQYRYLDLRS
FQMQYNLRLRSQMVMKMREYLCNLHGFVDIETPTLFKRTPGGAKEFLVPSREPGKFYSLP
QSPQQFKQLLMVGGLDRYFQVARCYRDEGSRPDRQPEFTQIDIEMSFVDQTGIQSLIEGL
LQYSWPNDKDPVVVPFPTMTFAEVLATYGTDKPDTRFGMKIIDISDVFRNTEIGFLQDAL
SKPHGTVKAICIPEGAKYLKRKDIESIRNFAADHFNQEILPVFLNANRNWNSPVANFIME
SQRLELIRLMETQEEDVVLLTAGEHNKACSLLGKLRLECADLLETRGVVLRDPTLFSFLW
VVDFPLFLPKEENPRELESAHHPFTAPHPSDIHLLYTEPKKARSQHYDLVLNGNEIGGGS
IRIHNAELQRYILATLLKEDVKMLSHLLQALDYGAPPHGGIALGLDRLICLVTGSPSIRD
VIAFPKSFRGHDLMSNTPDSVPPEELKPYHIRVSKPTDSKAERAH |
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| NT seq |
1938 nt  +upstreamnt +downstreamnt
atgtacttcccttcttggttaagtcagctgtacaggggtttatccagacccatcagaagg
accacccaaccgatctggggttctctctacagaagtctgttgcagagttcacagaggaga
attccagaattcagtagctttgttgtccggaccaacacatgtggagagttgcgttcgtct
cacttaggccaagaagtcaccttgtgtggatggattcagtaccgaaggcaaaacacattc
ttggtcctaagagatttcgatgggcttgttcaagttatcattccccaggatgagtcggca
gcctctgtgaagaagattttatgtgaagcccctgtggaatctgtggtgcaagtgtctggt
acagtcatttcccgtcctgcaggacaagagaatccaaaaatgccaacaggtgagattgaa
atcaaagttaaaacagctgagcttctgaatgcctgcaagaagctgccctttgaaattaag
aacttcgtgaagaaaacagaggctcttcggttgcagtatcgctacttagacttgcgtagt
ttccaaatgcagtataacctgcgactgaggtcccagatggtcatgaaaatgcgggaatat
ctctgtaatctgcatgggtttgtggatatagaaacccccacattgtttaagaggacccca
gggggtgccaaagagtttttagtaccatccagggaacctggaaagttttattctctccct
cagagtcctcaacagtttaagcaacttctgatggttggcggtttagacagatattttcag
gttgcccgatgttatcgagatgaaggttcaagaccagacagacagcctgagtttactcag
attgacatagagatgtcatttgtagaccagactgggatccagagtttaattgagggtttg
ctccagtattcctggcccaatgacaaagatcctgtggttgttccttttcctactatgact
tttgctgaggtgctggccacctatggaactgataaacctgacactcgctttggaatgaag
attatagatatcagtgatgtgtttagaaacacagagattggatttcttcaagatgcactt
agtaagccccatggaactgtgaaagccatatgtatccctgaaggagcaaaatacttaaaa
aggaaagacattgaatccattagaaactttgcagctgaccattttaatcaggaaatctta
cctgtattccttaacgccaatagaaactggaattctccagttgctaatttcataatggag
tcacaaagactggaattaatcagactaatggagacccaagaggaagatgtggtcctacta
actgctggagagcacaataaagcatgctctttgttaggaaaattacgactggaatgtgct
gaccttctagaaacaagaggagtggtgctccgtgaccccactctgttctctttcctttgg
gtggtagatttcccactcttcctgcccaaggaggaaaatcccagagagctggaatcggcc
caccacccatttactgctccccaccccagtgacatacatctcctgtacactgagcccaaa
aaggcccgtagccaacactatgacttggttttaaatggcaatgaaataggaggtggttca
attcgaattcacaatgcagagctgcagcgttatatcctggcaaccttactaaaggaggat
gtgaaaatgctctcccatctgctccaggctttagattatggggcaccccctcatggagga
attgccttagggttagacagactgatatgccttgtcactggatctccaagcatcagagat
gtcatagccttcccaaagtccttccggggacatgacctcatgagcaataccccagattct
gtccctcctgaggaactgaagccctatcatatccgagtctccaagccaacagactccaaa
gcagaaagagctcattga |
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