Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9Y345: Variant p.Thr425Met

Sodium- and chloride-dependent glycine transporter 2
Gene: SLC6A5
Feedback?
Variant information Variant position: help 425 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 Threonine (T) to Methionine (M) at position 425 (T425M, p.Thr425Met). 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 polar (T) to medium size and hydrophobic (M) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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
Variant description: help In HKPX3; no effect on subcellular location; impairs glycine transport. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 425 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 797 The length of the canonical sequence.
Location on the sequence: help VIVYASLAKGIKTSGKVVYF T ATFPYVVLVILLIRGVTLPG 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                         VIVYASLAKGIKTSGKVVYFTATFPYVVLVILLIRGVTLPG

Mouse                         VIVYASLAKGIKSSGKVVYFTATFPYVVLVILLIRGVTLPG

Rat                           VIVYASLAKGIKTSGKVVYFTATFPYVVLVILLIRGVTLPG

Xenopus laevis                IIVYASLAKGIKTSGKVVYSTATFPYVVLVILLFRGVTLPG
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 – 797 Sodium- and chloride-dependent glycine transporter 2
Transmembrane 421 – 438 Helical; Name=5



Literature citations
Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease.
Rees M.I.; Harvey K.; Pearce B.R.; Chung S.K.; Duguid I.C.; Thomas P.; Beatty S.; Graham G.E.; Armstrong L.; Shiang R.; Abbott K.J.; Zuberi S.M.; Stephenson J.B.; Owen M.J.; Tijssen M.A.; van den Maagdenberg A.M.; Smart T.G.; Supplisson S.; Harvey R.J.;
Nat. Genet. 38:801-806(2006)
Cited for: VARIANTS HKPX3 VAL-306; MET-425; CYS-482; CYS-491; SER-509 AND ARG-510; VARIANT GLU-89; CHARACTERIZATION OF VARIANTS HKPX3 VAL-306; MET-425; CYS-482; CYS-491; SER-509 AND ARG-510; CHARACTERIZATION OF VARIANT GLU-89; FUNCTION; TRANSPORTER ACTIVITY; SUBCELLULAR LOCATION; BIOPHYSICOCHEMICAL PROPERTIES;
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.