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UniProtKB/Swiss-Prot Q8WWI5: Variant p.Ser644Ala

Choline transporter-like protein 1
Gene: SLC44A1
Variant information

Variant position:  644
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  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:  From Serine (S) to Alanine (A) at position 644 (S644A, p.Ser644Ala).
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 small size and polar (S) to small size and hydrophobic (A)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  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

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  644
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  657
The length of the canonical sequence.

Location on the sequence:   EFVENSRKAMKEAGKGGVAD  S RELKPMASGASSA
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                         EFVENSRKAMKEAGKGGVADSRELKPMASGASSA

Mouse                         EFVENSRKAMKEAGKGGAADARELKPMLRKR---

Rat                           EFVENSRKAMKEAGKGGAADARKLKPMASGASSA

Xenopus laevis                EFVEDSRRALKEP--GSTAEGRELKPMASGTSTA

Baker's yeast                 SFLNASDLIRKAAERDNMLTT-------------

Fission yeast                 QLFESNGY--------------------------

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 2 – 657 Choline transporter-like protein 1
Topological domain 588 – 653 Mitochondrial intermembrane
Region 635 – 657 Disordered
Modified residue 652 – 652 Phosphoserine


Literature citations

Characterization of CDw92 as a member of the choline transporter-like protein family regulated specifically on dendritic cells.
Wille S.; Szekeres A.; Majdic O.; Prager E.; Staffler G.; Stoeckl J.; Kunthalert D.; Prieschl E.E.; Baumruker T.; Burtscher H.; Zlabinger G.J.; Knapp W.; Stockinger H.;
J. Immunol. 167:5795-5804(2001)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3); TISSUE SPECIFICITY; VARIANT ALA-644;

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.