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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9Y653: Variant p.Leu640Arg

Adhesion G-protein coupled receptor G1
Gene: ADGRG1
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Variant information Variant position: help 640 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance
Residue change: help From Leucine (L) to Arginine (R) at position 640 (L640R, p.Leu640Arg). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Change from medium size and hydrophobic (L) to large size and basic (R) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -2 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page
Variant description: help In CDCBM14A; unclear effects on cell surface localization; blocks downstream RhoA activation. Any additional useful information about the variant.


Sequence information Variant position: help 640 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 693 The length of the canonical sequence.
Location on the sequence: help GLPWALIFFSFASGTFQLVV L YLFSIITSFQGFLIFIWYWS 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         GLPWALIFFSFASGTFQLVVLYLFSIITSFQGFLIFIWYWS

Gorilla                       GLPWALIFFSFASGTFQLVVLYLFSIITSFQGFLIFIWYWS

Rhesus macaque                GLPWALIFFSFASGTFQLVVLYLFSIITSFQGFLIFLWYWS

Chimpanzee                    GLPWALIFFSFASGTFQLVILYLFSIITSFQGFLIFIWYWS

Mouse                         GLPWALVFFSFASGTFQLVILYLFSIITSFQGFLIFLWYWS

Rat                           GLPWALVFFSFASGTFQLVIIYLFSIMTSFQGFLIFLWYWS
Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 26 – 693 Adhesion G-protein coupled receptor G1
Chain 383 – 693 ADGRG1 C-terminal fragment
Transmembrane 637 – 657 Helical; Name=7
Helix 636 – 648



Literature citations
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 CDCBM14A 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 CDCBM14A 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 CDCBM14A ARG-640; LIGAND-BINDING; SUBCELLULAR LOCATION; ACTIVITY REGULATION;
Disclaimer: 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.