Variant position: 246 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 VTEKAGFKRAFIITGQTYTR KVDIEVLSVLASLGASVHKIC
Mouse VTEKAGFKRAFIITGQTYTR KVDIEVLSVLASLGASVHKIC
Bovine VTEKAGFKRAFIITGQTYTR KVDIEVLSVLASLGASVHKIC
Chicken VTAKAGFKRSYMVTGQTYSR KVDIEVLSVLASLGASVHKIC
Caenorhabditis elegans VTKKANFSNRFLITGQTYSR QQDSQLVFSLSLLGAAAKKVC
Slime mold VKVLHPSLKRMRFTTQIEHY DNVASLLDAFKRINTILIDLC
Baker's yeast VTELLGFDKVYPVTGQTYSR KIDIDVLAPLSSFAATAHKMA
Fission yeast VAKLSGFDNVYPVTGQTYDR KIDIDVLQPLASFGATAHKIA
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.
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;
Biochemical and biophysical analysis of five disease-associated human adenylosuccinate lyase mutants.
Ariyananda Lde Z.; Lee P.; Antonopoulos C.; Colman R.F.;
Cited for: CHARACTERIZATION OF VARIANTS ADSLD CYS-194; GLU-246; VAL-311; CYS-396 AND HIS-396; ACTIVITY REGULATION;
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.