Sequence information
Variant position: 89 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 863 The length of the canonical sequence.
Location on the sequence:
LNNEILGPVIQFLGVPYAAP
P TGERRFQPPEPPSPWSDIRN
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 LNNEILGPVIQFLGVPYAAPP TGERRFQPPEPPSPWSDI-RN
Mouse LNNEILGPVIQFLGVPYAAPP TGEHRFQPPEPPSPWSDI-R
Rat LNNEILGPVIQFLGVPYAAPP TGEHRFQPPEPPSPWSDI-R
Caenorhabditis elegans PEGDDLPPVAQYLGIPYGVAP TGQYRFNMAISAAKWTHMPK
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
Chain
46 – 863
Neuroligin-1
Topological domain
46 – 717
Extracellular
Glycosylation
109 – 109
N-linked (GlcNAc...) (complex) asparagine
Literature citations
Functional significance of rare neuroligin 1 variants found in autism.
Nakanishi M.; Nomura J.; Ji X.; Tamada K.; Arai T.; Takahashi E.; Bucan M.; Takumi T.;
PLoS Genet. 13:e1006940-e1006940(2017)
Cited for: FUNCTION; SUBCELLULAR LOCATION; TISSUE SPECIFICITY; VARIANTS AUTS20 LEU-89; ILE-90; PRO-309; GLU-337 AND TYR-835; VARIANT HIS-756; CHARACTERIZATION OF VARIANTS AUTS20 LEU-89; ILE-90; PRO-309; GLU-337 AND TYR-835; CHARACTERIZATION OF VARIANT HIS-756;
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.