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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9H156: Variant p.Leu74Ser

SLIT and NTRK-like protein 2
Gene: SLITRK2
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Variant information Variant position: help 74 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 Serine (S) at position 74 (L74S, p.Leu74Ser). 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 small size and polar (S) 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 XLID111; likely pathogenic; severely decreased surface expression; severely decreased localization to dendrites; loss-of-function variant unable to rescue defects of excitatory synapse development and synaptic transmission when expressed in SLITRK2 knockout-out mouse hippocampal neurons; no effect on interaction with NTRK2. Any additional useful information about the variant.


Sequence information Variant position: help 74 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 845 The length of the canonical sequence.
Location on the sequence: help VSLLQPPQYRIYQLFLNGNL L TRLYPNEFVNYSNAVTLHLG 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                         VSLLQPPQYRIYQLFLNGNLLTRLYPNEFVNYSNAVTLHLG

Mouse                         VSLLQPPQYRIYQLFLNGNLLTRLYPNEFVNYSNAVTLHLG
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 22 – 845 SLIT and NTRK-like protein 2
Topological domain 22 – 621 Extracellular
Repeat 63 – 84 LRR 1
Glycosylation 84 – 84 N-linked (GlcNAc...) asparagine



Literature citations
SLITRK2 variants associated with neurodevelopmental disorders impair excitatory synaptic function and cognition in mice.
El Chehadeh S.; Han K.A.; Kim D.; Jang G.; Bakhtiari S.; Lim D.; Kim H.Y.; Kim J.; Kim H.; Wynn J.; Chung W.K.; Vitiello G.; Cutcutache I.; Page M.; Gecz J.; Harper K.; Han A.R.; Kim H.M.; Wessels M.; Bayat A.; Jaen A.F.; Selicorni A.; Maitz S.; de Brouwer A.P.M.; Silfhout A.V.; Armstrong M.; Symonds J.; Kuery S.; Isidor B.; Cogne B.; Nizon M.; Feger C.; Muller J.; Torti E.; Grange D.K.; Willems M.; Kruer M.C.; Ko J.; Piton A.; Um J.W.;
Nat. Commun. 13:4112-4112(2022)
Cited for: INVOLVEMENT IN XLID111; VARIANTS XLID111 SER-74; LYS-210; ALA-312; ARG-374; CYS-426; 461-GLU--LEU-845 DEL AND MET-511; CHARACTERIZATION OF VARIANTS XLID111 SER-74; LYS-210; ALA-312; ARG-374; CYS-426; 461-GLU--LEU-845 DEL AND MET-511; VARIANTS ILE-9; GLU-15; ILE-201; ALA-311; GLN-484; ASP-555 AND CYS-792; CHARACTERIZATION OF VARIANTS ILE-9; GLU-15; ILE-201; ALA-311; ASN-323; GLN-484; ASP-555; ILE-589 AND CYS-792; FUNCTION; SUBCELLULAR LOCATION; INTERACTION WITH NTRK2;
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.