Variant position: 347 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 RLDPTYLKHSHQDSGLITDY RHWQIPLGRRFRSLKMWFVFR
Mouse NMDPVYLKHSHQDSGFITDY RHWQIPLGRRFRSLKMWFVFR
Rat NMDPVYLRHSHQDSGLITDY RHWQIPLGRRFRSLKMWFVFR
Pig KLDPVYLKHSHQGSGLITDY RHWQLPLGRRFRSLKMWFVFR
Bovine RLDPVYLRHSHQDSGLITDY RHWQLPLGRRFRSLKMWFVFR
Caenorhabditis elegans ------LQHASLENH--PDL PFKGLPTSQRVGALKIWFMIR
Drosophila NVDPLYLKHDMQGSA--PDY RHWQIPLGRRFRALKLWFVLR
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
339 – 480 Missing. In isoform 2.
Aromatic L-amino acid decarboxylase deficiency: clinical features, treatment, and prognosis.
Pons R.; Ford B.; Chiriboga C.A.; Clayton P.T.; Hinton V.; Hyland K.; Sharma R.; De Vivo D.C.;
Cited for: VARIANTS AADCD HIS-47; PHE-250; GLN-347 AND ILE-408;
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