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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O94910: Variant p.Met1152Thr

Adhesion G protein-coupled receptor L1
Gene: ADGRL1
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Variant information Variant position: help 1152 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 Methionine (M) to Threonine (T) at position 1152 (M1152T, p.Met1152Thr). 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 (M) to medium size and polar (T) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -1 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 DEDBANP; decreased G protein-coupled receptor signaling; decreased cell surface localization. Any additional useful information about the variant.


Sequence information Variant position: help 1152 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1474 The length of the canonical sequence.
Location on the sequence: help TSAMRSNTRYYTGTQSRIRR M WNDTVRKQTESSFMAGDINS 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                         TSAMRSNTRYYTGTQ--------------------------------------------SRIRRMWNDTVRKQTESSFMAGDINS

Mouse                         TSAMRSNTRYYTGTQ--------------------------

Rat                           TSAMRSNTRYYTGTQVPGQGRHIHQVSLGPRGRSALPESQK

Bovine                        TSAMRSNARYYTGTQ--------------------------
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 25 – 1474 Adhesion G protein-coupled receptor L1
Topological domain 1097 – 1474 Cytoplasmic



Literature citations
ADGRL1 haploinsufficiency causes a variable spectrum of neurodevelopmental disorders in humans and alters synaptic activity and behavior in a mouse model.
Vitobello A.; Mazel B.; Lelianova V.G.; Zangrandi A.; Petitto E.; Suckling J.; Salpietro V.; Meyer R.; Elbracht M.; Kurth I.; Eggermann T.; Benlaouer O.; Lall G.; Tonevitsky A.G.; Scott D.A.; Chan K.M.; Rosenfeld J.A.; Nambot S.; Safraou H.; Bruel A.L.; Denomme-Pichon A.S.; Tran Mau-Them F.; Philippe C.; Duffourd Y.; Guo H.; Petersen A.K.; Granger L.; Crunk A.; Bayat A.; Striano P.; Zara F.; Scala M.; Thomas Q.; Delahaye A.; de Sainte Agathe J.M.; Buratti J.; Kozlov S.V.; Faivre L.; Thauvin-Robinet C.; Ushkaryov Y.;
Am. J. Hum. Genet. 109:1436-1457(2022)
Cited for: VARIANTS DEDBANP 9-TRP--LEU-1474 DEL; 278-TRP--LEU-1474 DEL; CYS-346; ARG-1005; 1136-ARG--LEU-1474 DEL; THR-1152; PHE-1164 AND 1178-ARG--LEU-1474 DEL; CHARACTERIZATION OF VARIANTS DEDBANP 9-TRP--LEU-1474 DEL; ARG-1005; THR-1152 AND PHE-1164; INVOLVEMENT IN DEDBANP; SUBCELLULAR LOCATION; FUNCTION;
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.