Variant position: 395 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 QELPFMATENIIMAMVKAGG SRQDCHEKIRVLSQQAASVVK
Mouse QELPFMATENIIMAMVKAGG SRQDCHEKIRVLSQQAAAVVK
Bovine QELPFMATENIIMAMVKAGG NRQDCREKIRVLSQQAAAVVK
Chicken QELPFMATENIIMAMVKAGG NRQDCHEKIRVLSQQAAAVVK
Caenorhabditis elegans DEIAFLGLEKAMMMLTEEGV DRQQAHAVIRKTALEAKQLQA
Slime mold ANWAVV-SEAIQTILRREGF PKP--YEALKELTRVSGSKKI
Baker's yeast GELPFMATENIIMAMVEKNA SRQEVHERIRVLSHQAAAVVK
Fission yeast AELPFMATENIIMAMTKHGA SRHECHEQIRVLSHQAGRVVK
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
Mutation analysis in adenylosuccinate lyase deficiency: eight novel mutations in the re-evaluated full ADSL coding sequence.
Marie S.; Cuppens H.; Heuterspreute M.; Jaspers M.; Tola E.Z.; Gu X.X.; Legius E.; Vincent M.-F.; Jaeken J.; Cassiman J.-J.; van den Berghe G.;
Hum. Mutat. 13:197-202(1999)
Cited for: VARIANTS ADSL DEFICIENCY VAL-72; TRP-141; GLN-190; GLU-246; CYS-303; ARG-395 AND HIS-426;
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 ADSL DEFICIENCY VAL-2; LEU-26; TRP-141; CYS-303; ARG-395; HIS-426 AND SER-450;
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.