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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P55011: Variant p.Ala379Leu

Solute carrier family 12 member 2
Gene: SLC12A2
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Variant information Variant position: help 379 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 Alanine (A) to Leucine (L) at position 379 (A379L, p.Ala379Leu). 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 small size and hydrophobic (A) to medium size and hydrophobic (L) 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 DELMNES; requires 2 nucleotide substitutions. Any additional useful information about the variant.


Sequence information Variant position: help 379 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1212 The length of the canonical sequence.
Location on the sequence: help SLGPEFGGAIGLIFAFANAV A VAMYVVGFAETVVELLKEHS 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                         SLGPEFGGAIGLIFAFANAVAVAMYVVGFAETVVELLKEHS

Mouse                         SLGPEFGGAIGLIFAFANAVAVAMYVVGFAETVVELLKEHS

Zebrafish                     SLGPEFGGSIGLIFAFANAVAVAMYVVGFAETVVELLMDSG
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 – 1212 Solute carrier family 12 member 2
Transmembrane 368 – 395 Helical; Name=3
Binding site 372 – 372
Binding site 383 – 383
Mutagenesis 383 – 383 Y -> FS. Impairs transporter activity.
Mutagenesis 389 – 389 E -> QR. Strongly reduced cation-chloride cotransporter activity.
Helix 362 – 397



Literature citations
SLC12A2 variants cause a neurodevelopmental disorder or cochleovestibular defect.
McNeill A.; Iovino E.; Mansard L.; Vache C.; Baux D.; Bedoukian E.; Cox H.; Dean J.; Goudie D.; Kumar A.; Newbury-Ecob R.; Fallerini C.; Renieri A.; Lopergolo D.; Mari F.; Blanchet C.; Willems M.; Roux A.F.; Pippucci T.; Delpire E.;
Brain 143:2380-2387(2020)
Cited for: INVOLVEMENT IN DFNA78; INVOLVEMENT IN DELMNES; VARIANTS DELMNES VAL-327; ILE-376; LEU-379; GLN-410; 892-TRP--SER-1212 DEL AND LYS-980; VARIANT DFNA78 LYS-979;
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.