Variant position: 396 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 ELPFMATENIIMAMVKAGGS RQDCHEKIRVLSQQAASVVKQ
Mouse ELPFMATENIIMAMVKAGGS RQDCHEKIRVLSQQAAAVVKQ
Bovine ELPFMATENIIMAMVKAGGN RQDCREKIRVLSQQAAAVVKQ
Chicken ELPFMATENIIMAMVKAGGN RQDCHEKIRVLSQQAAAVVKQ
Caenorhabditis elegans EIAFLGLEKAMMMLTEEGVD RQQAHAVIRKTALEAKQLQAT
Slime mold NWAVV-SEAIQTILRREGFP KP--YEALKELTRVSGSKKIT
Baker's yeast ELPFMATENIIMAMVEKNAS RQEVHERIRVLSHQAAAVVKE
Fission yeast ELPFMATENIIMAMTKHGAS RHECHEQIRVLSHQAGRVVKE
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.
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;
Biochemical and biophysical analysis of five disease-associated human adenylosuccinate lyase mutants.
Ariyananda Lde Z.; Lee P.; Antonopoulos C.; Colman R.F.;
Cited for: CHARACTERIZATION OF VARIANTS ADSL DEFICIENCY CYS-194; GLU-246; VAL-311; CYS-396 AND HIS-396; ENZYME REGULATION;
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.