Variant position: 324 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 373 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 HETSNINDFSAGVANRSASI RIPRTVGQEKKGYFEDRRPSA
Mouse HETSNINDFSAGVANRGASI RIPRTVGQEKKGYFEDRRPSA
Rat HETSNINDFSAGVANRSASI RIPRIVGQEKKGYFEDRRPSA
Pig HETSNINDFSAGVANRGASI RIPRTGGQEKKGYFEDRRPSA
Bovine HETSNINDFSAGVANRGASI RIPRTVGQEKKGYFEDRRPSA
Chicken HETSSIHEFSAGVANRGASI RIPRNVGHEKKGYFEDRGPSA
Xenopus laevis HETSSIHEFSAGVANRGASI RIPRQVGQEGYGYFEDRRPAA
Caenorhabditis elegans HETSSADKFSWGVANRGCSI RIPRQVAAERKGYLEDRRPSS
Baker's yeast HETASMTAFSSGVANRGSSI RIPRSVAKEGYGYFEDRRPAS
Fission yeast HETGSIDKFTYGVADRGASV RIPRSVAMNGCGYFEDRRPAS
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.
Congenital glutamine deficiency with glutamine synthetase mutations.
Haeberle J.; Goerg B.; Rutsch F.; Schmidt E.; Toutain A.; Benoist J.-F.; Gelot A.; Suc A.-L.; Hoehne W.; Schliess F.; Haeussinger D.; Koch H.G.;
N. Engl. J. Med. 353:1926-1933(2005)
Cited for: VARIANTS CSGD CYS-324 AND CYS-341; CHARACTERIZATION OF VARIANTS CSGD CYS-324 AND CYS-341; FUNCTION; CATALYTIC ACTIVITY;
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.