Sequence information
Variant position: 450 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:
DAYFSPIHSQLDHLLDPSSF
T GRASQQVQRFLEEEVYPLLK
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 DAYFSPIHSQLDHLLD-PSSFT GRASQQVQRFLEEEVYPLLK
Mouse DAYFSPIHSQLEHLLD-PSSFT GRAPQQVHRFLEEEVRPLL
Bovine DAYFSPIHSQLDHLLD-PSSFT GRASQQVQRFLEEEVCPLL
Chicken DPYFSPIHEHLDSLLD-PSSFT GRAPQQVAKFLKEEVRPAL
Caenorhabditis elegans DPFFDSVRDRVVGLVNNPINFT GRCVSQTESFIAKELKPTI
Slime mold P---DDIKSELK-LIT-PFNYI GIIPDF-------------
Baker's yeast DEFFKPIWEELDSLLE-PSTFV GRAPQQVEKFVQKDVNNAL
Fission yeast TPYFAPIYDELDSLLD-ASTFV GRAPEQTESFVNKDVSQAL
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
Chain
2 – 484
Adenylosuccinate lyase
Alternative sequence
398 – 456
Missing. In isoform 2.
Literature citations
Clinical, biochemical and molecular genetic correlations in adenylosuccinate lyase deficiency.
Race V.; Marie S.; Vincent M.-F.; Van den Berghe G.;
Hum. Mol. Genet. 9:2159-2165(2000)
Cited for: CHARACTERIZATION OF VARIANTS ADSLD VAL-2; LEU-26; TRP-141; CYS-303; ARG-395; HIS-426 AND SER-450;
Disclaimer:
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.