Variant position: 311 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 AMPYKRNPMRSERCCSLARH LMTLVMDPLQTASVQWFERTL
Mouse AMPYKRNPMRSERCCSLARH LMALTMDPLQTASVQWFERTL
Bovine AMPYKRNPMRSERCCSLARH LMALVMDPLQTASVQWFERTL
Chicken AMPYKRNPMRSERCCSLARH LMTLVLDPLQTASVQWFERTL
Caenorhabditis elegans AMPYKKNPMKSERCCALSRK LINAPQEALTILADQGLERTL
Slime mold TMPHKVNPIDFENAEGNMGV ANALYEHLSAKLPISRLQRDL
Baker's yeast AMAYKRNPMRCERVCSLARH LGSLFSDAVQTASVQWFERTL
Fission yeast AMAYKRNPMRCERICSQARY IMNLIPNALNTASVQWFERTL
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
303 – 303 Substrate; shared with neighboring subunit
329 – 329 Substrate
295 – 295 N6-acetyllysine
299 – 313
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.