Sequence information
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:
KIRVLSQQAASVVKQEGGDN
D LIERIQVDAYFSPIHSQLDH
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 KIRVLSQQAASVVKQEGGDND LIERIQVDAYFSPIHSQLDH
Mouse KIRVLSQQAAAVVKQEGGDND LIERIRADAYFSPIHSQLEH
Bovine KIRVLSQQAAAVVKQEGGDND LIERIQADAYFSPIHSQLDH
Chicken KIRVLSQQAAAVVKQEGGDND FIARVRADPYFSPIHEHLDS
Caenorhabditis elegans VIRKTALEAKQLQATQKVD-- -IRQTMADPFFDSVRDRVVG
Slime mold ALKELTRVSGSKKITESDIQT FIDSLSIP---DDIKSELK-
Baker's yeast RIRVLSHQAAAVVKEEGGEND LIERVKRDEFFKPIWEELDS
Fission yeast QIRVLSHQAGRVVKEEGGDND LIERIKNTPYFAPIYDELDS
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
Chain
2 – 484
Adenylosuccinate lyase
Cross
415 – 415
Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1)
Alternative sequence
398 – 456
Missing. In isoform 2.
Literature citations
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 ADSLD ALA-100 AND TYR-422;
Disclaimer:
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.