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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9Y345: Variant p.Gly449Glu

Sodium- and chloride-dependent glycine transporter 2
Gene: SLC6A5
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Variant information Variant position: help 449 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 Glycine (G) to Glutamate (E) at position 449 (G449E, p.Gly449Glu). 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 glycine (G) to medium size and acidic (E) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -2 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; likely pathogenic; loss of glycine transport; the mutant does not localize to the cell membrane. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 449 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 PYVVLVILLIRGVTLPGAGA G IWYFITPKWEKLTDATVWKD 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                         PYVVLVILLIRGVTLPGAGAGIWYFITPKWEKLTDATVWKD

Mouse                         PYVVLVILLIRGVTLPGAGAGIWYFITPKWEKLTDATVWKD

Rat                           PYVVLVILLIRGVTLPGAGAGIWYFITPKWEKLTDATVWKD

Xenopus laevis                PYVVLVILLFRGVTLPGAGDGIWWFIMPKWEKLMDATVWKD
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
Mutagenesis 449 – 449 G -> A. Loss of glycine transport.



Literature citations
A New GlyT2 Variant Associated with Hyperekplexia.
Sarmiento-Jimenez J.; Felipe R.; Nunez E.; Ferrando-Munoz A.; Benito-Munoz C.; Gago F.; Vazquez J.; Camafeita E.; Clement E.; Wilson B.; Lopez-Corcuera B.;
Int. J. Mol. Sci. 26:0-0(2025)
Cited for: VARIANT HKPX3 GLU-449; CHARACTERIZATION OF VARIANT HKPX3 GLU-449; FUNCTION; SUBCELLULAR LOCATION; MUTAGENESIS OF GLY-449; INVOLVEMENT IN HKPX3;
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.