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UniProtKB/Swiss-Prot Q9NZ94: Variant p.Arg451Cys

Neuroligin-3
Gene: NLGN3
Chromosomal location: Xq13
Variant information

Variant position:  451
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Arginine (R) to Cysteine (C) at position 451 (R451C, p.Arg451Cys).
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:  Change from large size and basic (R) to medium size and polar (C)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -3
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

Involvement in disease:  Asperger syndrome, X-linked, 1 (ASPGX1) [MIM:300494]: A syndrome with features similar to autism. Affected individuals exhibit qualitative impairment in social interaction, as manifest by impairment in the use of non-verbal behaviors such as eye-to-eye gaze, facial expression, body postures, and gestures, failure to develop appropriate peer relationships, and lack of social sharing or reciprocity. Patients also exhibit restricted, repetitive and stereotyped patterns of behavior, interests, and activities, including abnormal preoccupation with certain activities and inflexible adherence to routines or rituals. Asperger syndrome is primarily distinguished from autism by the higher cognitive abilities and a more normal and timely development of language and communicative phrases. {ECO:0000269|PubMed:12669065}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Involvement in disease:  Autism, X-linked 1 (AUTSX1) [MIM:300425]: A complex multifactorial, pervasive developmental disorder characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age. Most individuals with autism also manifest moderate mental retardation. {ECO:0000269|PubMed:12669065}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  In AUTSX1 and ASPGX1.
Any additional useful information about the variant.



Sequence information

Variant position:  451
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  848
The length of the canonical sequence.

Location on the sequence:   YSVSNFVDNLYGYPEGKDTL  R ETIKFMYTDWADRDNPETRR
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                         YSVSNFVDNLYGYPEGKDTLRETIKFMYTDWADRDNPETRR

Mouse                         YSVSNFVDNLYGYPEGKDTLRETIKFMYTDWADRDNPETRR

Rat                           YSVSNFVDNLYGYPEGKDTLRETIKFMYTDWADRDNPETRR

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.

TypePositionsDescription
Chain 38 – 848 Neuroligin-3
Topological domain 38 – 709 Extracellular


Literature citations

Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism.
Jamain S.; Quach H.; Betancur C.; Rastam M.; Colineaux C.; Gillberg I.C.; Soderstrom H.; Giros B.; Leboyer M.; Gillberg C.; Bourgeron T.; Nyden A.; Philippe A.; Cohen D.; Chabane N.; Mouren-Simeoni M.C.; Brice A.; Sponheim E.; Spurkland I.; Skjeldal O.H.; Coleman M.; Pearl P.L.; Cohen I.L.; Tsiouris J.; Zappella M.; Menchetti G.; Pompella A.; Aschauer H.; Van Maldergem L.;
Nat. Genet. 34:27-29(2003)
Cited for: VARIANT AUTSX1 CYS-451; VARIANT ASPGX1 CYS-451;

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.