Variant position: 426 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 LSQQAASVVKQEGGDNDLIE RIQVDAYFSPIHSQLDHLLD-P
Mouse LSQQAAAVVKQEGGDNDLIE RIRADAYFSPIHSQLEHLLD-
Bovine LSQQAAAVVKQEGGDNDLIE RIQADAYFSPIHSQLDHLLD-
Chicken LSQQAAAVVKQEGGDNDFIA RVRADPYFSPIHEHLDSLLD-
Caenorhabditis elegans TALEAKQLQATQKVD---IR QTMADPFFDSVRDRVVGLVNN
Slime mold LTRVSGSKKITESDIQTFID SLSIP---DDIKSELK-LIT-
Baker's yeast LSHQAAAVVKEEGGENDLIE RVKRDEFFKPIWEELDSLLE-
Fission yeast LSHQAGRVVKEEGGDNDLIE RIKNTPYFAPIYDELDSLLD-
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
415 – 415 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1)
398 – 456 Missing. In isoform 2.
423 – 429
Human adenylosuccinate lyase (ADSL), cloning and characterization of full-length cDNA and its isoform, gene structure and molecular basis for ADSL deficiency in six patients.
Kmoch S.; Hartmannova H.; Stiburkova B.; Krijt J.; Zikanova M.; Sebesta I.;
Hum. Mol. Genet. 9:1501-1513(2000)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2); FUNCTION; VARIANTS ADSLD VAL-3; HIS-114; GLN-190; CYS-194; ASN-268; HIS-426 AND ASN-430;
Adenylosuccinase deficiency presenting with epilepsy in early infancy.
Maaswinkel-Mooij P.D.; Laan L.A.E.M.; Onkenhout W.; Brouwer O.F.; Jaeken J.; Poorthuis B.J.H.M.;
J. Inherit. Metab. Dis. 20:606-607(1997)
Cited for: VARIANT ADSLD HIS-426;
Mutation analysis in adenylosuccinate lyase deficiency: eight novel mutations in the re-evaluated full ADSL coding sequence.
Marie S.; Cuppens H.; Heuterspreute M.; Jaspers M.; Tola E.Z.; Gu X.X.; Legius E.; Vincent M.-F.; Jaeken J.; Cassiman J.-J.; van den Berghe G.;
Hum. Mutat. 13:197-202(1999)
Cited for: VARIANTS ADSLD VAL-72; TRP-141; GLN-190; GLU-246; CYS-303; ARG-395 AND HIS-426;
Clinical, biochemical and molecular genetic correlations in adenylosuccinate lyase deficiency.
Race V.; Marie S.; Vincent M.-F.; Van den Berghe G.;
Hum. Mol. Genet. 9:2159-2165(2000)
Cited for: CHARACTERIZATION OF VARIANTS ADSLD VAL-2; LEU-26; TRP-141; CYS-303; ARG-395; HIS-426 AND SER-450;
Intrafamilial variability in the phenotypic expression of adenylosuccinate lyase deficiency: a report on three patients.
Edery P.; Chabrier S.; Ceballos-Picot I.; Marie S.; Vincent M.-F.; Tardieu M.;
Am. J. Med. Genet. A 120:185-190(2003)
Cited for: VARIANT ADSLD HIS-426;
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