Variant position: 640 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 693 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 GLPWALIFFSFASGTFQLVV LYLFSIITSFQGFLIFIWYWS
Gorilla GLPWALIFFSFASGTFQLVV LYLFSIITSFQGFLIFIWYWS
Rhesus macaque GLPWALIFFSFASGTFQLVV LYLFSIITSFQGFLIFLWYWS
Chimpanzee GLPWALIFFSFASGTFQLVI LYLFSIITSFQGFLIFIWYWS
Mouse GLPWALVFFSFASGTFQLVI LYLFSIITSFQGFLIFLWYWS
Rat GLPWALVFFSFASGTFQLVI IYLFSIMTSFQGFLIFLWYWS
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
26 – 693 Adhesion G-protein coupled receptor G1
383 – 693 ADGRG1 C-terminal fragment
637 – 657 Helical; Name=7
Disease-associated GPR56 mutations cause bilateral frontoparietal polymicrogyria via multiple mechanisms.
Chiang N.Y.; Hsiao C.C.; Huang Y.S.; Chen H.Y.; Hsieh I.J.; Chang G.W.; Lin H.H.;
J. Biol. Chem. 286:14215-14225(2011)
Cited for: SUBUNIT; SUBCELLULAR LOCATION (ADGRG1 N-TERMINAL FRAGMENT); GLYCOSYLATION; CHARACTERIZATION OF VARIANTS BFPP TRP-38; CYS-88; SER-91; SER-346; SER-349; TRP-565 AND ARG-640; MUTAGENESIS OF THR-383;
Genotype-phenotype analysis of human frontoparietal polymicrogyria syndromes.
Piao X.; Chang B.S.; Bodell A.; Woods K.; Benzeev B.; Topcu M.; Guerrini R.; Goldberg-Stern H.; Sztriha L.; Dobyns W.B.; Barkovich A.J.; Walsh C.A.;
Ann. Neurol. 58:680-687(2005)
Cited for: VARIANTS BFPP GLN-38; TRP-38; SER-349; TRP-565 AND ARG-640;
Mechanism for adhesion G protein-coupled receptor GPR56-mediated RhoA activation induced by collagen III stimulation.
Luo R.; Jeong S.J.; Yang A.; Wen M.; Saslowsky D.E.; Lencer W.I.; Arac D.; Piao X.;
PLoS ONE 9:E100043-E100043(2014)
Cited for: CHARACTERIZATION OF VARIANT BFPP ARG-640; LIGAND-BINDING; SUBCELLULAR LOCATION; ACTIVITY REGULATION;
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