Variant position: 452 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 YFSPIHSQLDHLLD-PSSFTG RASQQVQRFLEEEVYPLLKPY
Mouse YFSPIHSQLEHLLD-PSSFTG RAPQQVHRFLEEEVRPLLKP
Bovine YFSPIHSQLDHLLD-PSSFTG RASQQVQRFLEEEVCPLLKP
Chicken YFSPIHEHLDSLLD-PSSFTG RAPQQVAKFLKEEVRPALIP
Caenorhabditis elegans FFDSVRDRVVGLVNNPINFTG RCVSQTESFIAKELKPTIDK
Slime mold --DDIKSELK-LIT-PFNYIG IIPDF---------------
Baker's yeast FFKPIWEELDSLLE-PSTFVG RAPQQVEKFVQKDVNNALQP
Fission yeast YFAPIYDELDSLLD-ASTFVG RAPEQTESFVNKDVSQALAP
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
398 – 456 Missing. In isoform 2.
Screening for adenylosuccinate lyase deficiency: clinical, biochemical and molecular findings in four patients.
Castro M.; Perez-Cerda C.; Merinero B.; Garcia M.J.; Bernar J.; Gil Nagel A.; Torres J.; Bermudez M.; Garavito P.; Marie S.; Vincent F.; Van den Berghe G.; Ugarte M.;
Cited for: VARIANTS ADSL DEFICIENCY VAL-311; MET-364; HIS-396 AND PRO-452;
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