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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P31645: Variant p.Lys201Asn

Sodium-dependent serotonin transporter
Gene: SLC6A4
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Variant information Variant position: help 201 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LB/B 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 Lysine (K) to Asparagine (N) at position 201 (K201N, p.Lys201Asn). 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 large size and basic (K) to medium size and polar (N) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 0 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

Polymorphism: help A polymorphism in the promoter region (5-HTT gene-linked polymorphic region, 5-HTTLPR) is located approximately 1 kb upstream of the transcription initiation site and is composed of 16 repeat elements. The polymorphism consists of a 44-bp insertion or deletion involving repeat elements 6 to 8. The short allele is associated with lower transcriptional efficiency of the promoter compared with the long allele. Over half of the Caucasian population has a short allele. Individuals with one or two copies of the short allele exhibit more depressive symptoms, diagnosable depression and suicidality in relation to stressful life events than individuals homozygous for the long allele.The 5-HTTLPR polymorphism may influence susceptibility to anxiety [MIM:607834]. - The polymorphism Val-425 seems to be linked to a susceptibility to obsessive-compulsive disorder (OCD) [MIM:164230]. - Genetic variations in SLC6A4 determine the genetic susceptibility to alcoholism [MIM:103780]. - Polymorphisms that alter SLC6A4 expression or function may increase the susceptibility to autism. - Additional information on the polymorphism described.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 201 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 630 The length of the canonical sequence.
Location on the sequence: help AWALYYLISSFTDQLPWTSC K NSWNTGNCTNYFSEDNITWT 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                         AWALYYLISSFTDQLPWTSCKNSWNTGNCTNYFSEDNITWT

Rhesus macaque                AWALYYLISSFTDQLPWTSCKNSWNTGNCTNYFSEDNITWT

Mouse                         AWALYYLISSFTDQLPWTSCKNSWNTGNCTNYFAQDNITWT

Rat                           AWALYYLISSLTDRLPWTSCTNSWNTGNCTNYFAQDNITWT

Bovine                        AWALYYLISSFTEQLPWTSCENSWNTGNCTNYFSEDNITWT

Drosophila                    GWAVYYLFASFTSKLPWTSCDNPWNTENCMQVTSEN---FT

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 1 – 630 Sodium-dependent serotonin transporter
Topological domain 187 – 252 Extracellular
Glycosylation 208 – 208 N-linked (GlcNAc...) asparagine
Glycosylation 217 – 217 N-linked (GlcNAc...) asparagine
Disulfide bond 200 – 209



Literature citations
No reference for the current variant in UniProtKB/Swiss-Prot.
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.