Variant position: 422 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 484 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 KIRVLSQQAASVVKQEGGDN DLIERIQVDAYFSPIHSQLDH
Mouse KIRVLSQQAAAVVKQEGGDN DLIERIRADAYFSPIHSQLEH
Bovine KIRVLSQQAAAVVKQEGGDN DLIERIQADAYFSPIHSQLDH
Chicken KIRVLSQQAAAVVKQEGGDN DFIARVRADPYFSPIHEHLDS
Caenorhabditis elegans VIRKTALEAKQLQATQKVD- --IRQTMADPFFDSVRDRVVG
Slime mold ALKELTRVSGSKKITESDIQ TFIDSLSIP---DDIKSELK-
Baker's yeast RIRVLSHQAAAVVKEEGGEN DLIERVKRDEFFKPIWEELDS
Fission yeast QIRVLSHQAGRVVKEEGGDN DLIERIKNTPYFAPIYDELDS
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
2 – 484 Adenylosuccinate lyase
398 – 456 Missing. In isoform 2.
Identification of new mutations in the adenylosuccinate lyase gene associated with impaired enzyme activity in lymphocytes and red blood cells.
Verginelli D.; Luckow B.; Crifo C.; Salerno C.; Gross M.;
Biochim. Biophys. Acta 1406:81-84(1998)
Cited for: VARIANTS ADSL DEFICIENCY ALA-100 AND TYR-422;
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