Variant position: 268 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 DIEVLSVLASLGASVHKICT DIRLLANLKEMEEPFEKQQIG
Mouse DIEVLSVLASLGASVHKICT DIRLLANLKEMEEPFEKQQIG
Bovine DIEVLSVLASLGASVHKICT DIRLLANLKEMEEPFEKQQIG
Chicken DIEVLSVLASLGASVHKICT DIRLLANLKEIEEPFEKDQIG
Caenorhabditis elegans DSQLVFSLSLLGAAAKKVCT DIRVLQAFGELLEPFEKDQIG
Slime mold VASLLDAFKRINTILIDLCR DIWTYISMEYFNQKLVKGEVG
Baker's yeast DIDVLAPLSSFAATAHKMAT DIRLLANLKEVEEPFEKSQIG
Fission yeast DIDVLQPLASFGATAHKIAT DIRLLANLKEVEEPFEAGQIG
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); VARIANTS ADSL DEFICIENCY VAL-3; HIS-114; GLN-190; CYS-194; ASN-268; HIS-426 AND ASN-430;
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.