Variant position: 194 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 LWIQDLCMDLQNLKR-VRDDL RFRGVKGT-TGTQASFLQLFEG
Mouse LWIQDLCMDLQNLKR-VRDEL RFRGVKGT-TGTQASFLQLF
Bovine LWIQDLCMDLQNLKR-VRDEL RFRGVKGT-TGTQASFLQLF
Chicken LWIQDLCMDLQNLER-ARDDL RFRGVKGT-TGTQASFLQLF
Caenorhabditis elegans LWAQELLMAFQSLSE-FRDKM RFRGIKGA-TGTQDSFLTLF
Slime mold VFIERLENQINHLEQSVPHTC KFGGATGNLNAHKVSYPAI-
Baker's yeast LWIQELLWDLRNFER-ARNDI GLRGVKGT-TGTQASFLALF
Fission yeast LWIQELLWDLRNFVR-ARNDI GFRGVKGT-TGTQASFLALF
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
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); VARIANTS ADSL DEFICIENCY VAL-3; HIS-114; GLN-190; CYS-194; ASN-268; HIS-426 AND ASN-430;
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 ADSL DEFICIENCY CYS-194; GLU-246; VAL-311; CYS-396 AND HIS-396; ENZYME 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.