Variant position: 430 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 AASVVKQEGGDNDLIERIQV DAYFSPIHSQLDHLLD-PSSFT
Mouse AAAVVKQEGGDNDLIERIRA DAYFSPIHSQLEHLLD-PSSF
Bovine AAAVVKQEGGDNDLIERIQA DAYFSPIHSQLDHLLD-PSSF
Chicken AAAVVKQEGGDNDFIARVRA DPYFSPIHEHLDSLLD-PSSF
Caenorhabditis elegans AKQLQATQKVD---IRQTMA DPFFDSVRDRVVGLVNNPINF
Slime mold SGSKKITESDIQTFIDSLSI P---DDIKSELK-LIT-PFNY
Baker's yeast AAAVVKEEGGENDLIERVKR DEFFKPIWEELDSLLE-PSTF
Fission yeast AGRVVKEEGGDNDLIERIKN TPYFAPIYDELDSLLD-ASTF
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.
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;
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.