Variant position: 341 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 ASIRIPRTVGQEKKGYFEDR RPSANCDPFSVTEALIRT-CLL
Mouse ASIRIPRTVGQEKKGYFEDR RPSANCDPYAVTEAIVRT-CL
Rat ASIRIPRIVGQEKKGYFEDR RPSANCDPYAVTEAIVRT-CL
Pig ASIRIPRTGGQEKKGYFEDR RPSANCDPFAVTEALIRT-CL
Bovine ASIRIPRTVGQEKKGYFEDR RPSANCDPFAVTEALIRT-CL
Chicken ASIRIPRNVGHEKKGYFEDR GPSANCDPYAVTEALVRT-CL
Xenopus laevis ASIRIPRQVGQEGYGYFEDR RPAANCDPYAVTEALVRT-TI
Caenorhabditis elegans CSIRIPRQVAAERKGYLEDR RPSSNCDPYQVTAMIAQS---
Baker's yeast SSIRIPRSVAKEGYGYFEDR RPASNIDPYLVTGIMCETVCG
Fission yeast ASVRIPRSVAMNGCGYFEDR RPASSIDPYLVTGIITET---
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 – 373 Glutamine synthetase
113 – 373 GS catalytic
338 – 338 Manganese 1
324 – 324 ATP
340 – 340 L-glutamate
343 – 343 Phosphoserine
324 – 324 R -> AC. Decreases ribolosomal 40S subunit synthesis. Loss of nucleolar location of BYSL.
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.