Variant position: 147 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 480 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human ELPKAFLN-EKAGEGGGVIQG SASEATLVALLAARTKVIHRL
Mouse ELPEAFLA-GRAGEGGGVIQG SASEATLVALLAARTKVIRQ
Rat ELPEAFLA-GRAGEGGGVIQG SASEATLVALLAARTKMIRQ
Pig QLPEAFLA-GEAGEGGGVIQG SASEATLVALLAARTKVVRR
Bovine QLPEAFLA-GEAGEGGGVIQG TASEATLVALLAARTKVTRH
Caenorhabditis elegans ALPKEFLLFPEASRGGGCMQR SDTESNFLVLVAARTDMIRR
Drosophila ELPAEFLA-CSGGKGGGVIQG TASESTLVALLGAKAKKLKE
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
1 – 480 Aromatic-L-amino-acid decarboxylase
118 – 178 2
58 – 178 2 X approximate tandem repeats
148 – 148 Pyridoxal phosphate; via amide nitrogen
149 – 149 Pyridoxal phosphate
146 – 238 Missing. In isoform 4.
Mutations in the human aromatic L-amino acid decarboxylase gene.
Chang Y.T.; Mues G.; McPherson J.D.; Bedell J.; Marsh J.L.; Hyland K.; Courtwright K.H.; Summers J.W.;
Cited for: VARIANTS AADCD VAL-91; SER-102; ARG-147; PHE-250; THR-275 AND LEU-309;
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