Variant position: 190 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 KRCCLWIQDLCMDLQNLKR-V RDDLRFRGVKGT-TGTQASFLQ
Mouse KRCCLWIQDLCMDLQNLKR-V RDELRFRGVKGT-TGTQASF
Bovine KRCCLWIQDLCMDLQNLKR-V RDELRFRGVKGT-TGTQASF
Chicken KRCCLWIQDLCMDLQNLER-A RDDLRFRGVKGT-TGTQASF
Caenorhabditis elegans KRGVLWAQELLMAFQSLSE-F RDKMRFRGIKGA-TGTQDSF
Slime mold KELMVFIERLENQINHLEQSV PHTCKFGGATGNLNAHKVSY
Baker's yeast KRATLWIQELLWDLRNFER-A RNDIGLRGVKGT-TGTQASF
Fission yeast KRATLWIQELLWDLRNFVR-A RNDIGFRGVKGT-TGTQASF
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.
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;
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;
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.