Variant position: 33 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 2225 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 RGQPFG-------AAVSTAGEVVFQTG MVGYPEALTDPSYKAQILVLT
Mouse QGRPFG-------AAVSTAGEVVFQTG MVGYPEALTDPSYK
Caenorhabditis elegans VGSIYG-------ATKSVVGEIVFQTG MVGYVESLTDPSYA
Drosophila PGYSFGYVPSENESKVGFGGEVVFQTG MVGYTEALTDRSYS
Slime mold SGYSFG-------SERSVAGECVFSTG MVGYNESISDPSYT
Baker's yeast QGYSFG-------AEKSVAGELVFQTG MVGYPESVTDPSYE
Fission yeast QGYSFG-------ADHSVSGELVFQTG MVGYPESLTDPSYR
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 – 2225 CAD protein
2 – 365 GATase (Glutamine amidotransferase)
Novel GNB1 mutations disrupt assembly and function of G protein heterotrimers and cause global developmental delay in humans.
Lohmann K.; Masuho I.; Patil D.N.; Baumann H.; Hebert E.; Steinruecke S.; Trujillano D.; Skamangas N.K.; Dobricic V.; Huening I.; Gillessen-Kaesbach G.; Westenberger A.; Savic-Pavicevic D.; Muenchau A.; Oprea G.; Klein C.; Rolfs A.; Martemyanov K.A.;
Hum. Mol. Genet. 26:1078-1086(2017)
Cited for: VARIANTS EIEE50 ARG-33 AND 1789-ARG--PHE-2225 DEL;
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