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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q92581: Variant p.Leu188Pro

Sodium/hydrogen exchanger 6
Gene: SLC9A6
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Variant information Variant position: help 188 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 Leucine (L) to Proline (P) at position 188 (L188P, p.Leu188Pro). 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 Similar physico-chemical property. Both residues are medium size and hydrophobic. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -3 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 MRXSCH; reduces oligosaccharide maturation; decreases protein stability; partially accumulated in the ER; impairs acidification of endosomes; reduces localization to recycling endosomes; impairs trafficking to plasma membrane; reduces uptake of recycling endosomal cargo. Any additional useful information about the variant.


Sequence information Variant position: help 188 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 701 The length of the canonical sequence.
Location on the sequence: help QDNEMLRKVTFDPEVFFNIL L PPIIFYAGYSLKRRHFFRNL 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                         QDNEMLRKVTFDPEVFFNILLPPIIFYAGYSLKRRHFFRNL

Mouse                         QDNEMLRKVTFDPEVFFNILLPPIIFYAGYSLKRRHFFRNL

Rat                           QDNEMLRKVTFDPEVFFNILLPPIIFYAGYSLKRRHFFRNL
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 – 701 Sodium/hydrogen exchanger 6
Transmembrane 176 – 196 Helical; Name=3



Literature citations
Genetic and phenotypic diversity of NHE6 mutations in Christianson syndrome.
Pescosolido M.F.; Stein D.M.; Schmidt M.; El Achkar C.M.; Sabbagh M.; Rogg J.M.; Tantravahi U.; McLean R.L.; Liu J.S.; Poduri A.; Morrow E.M.;
Ann. Neurol. 76:581-593(2014)
Cited for: VARIANTS MRXSCH PRO-188; ASP-383; 547-GLU--ALA-701 DEL AND 570-TRP--ALA-701 DEL; Assorted dysfunctions of endosomal alkali cation/proton exchanger SLC9A6 variants linked to Christianson syndrome.
Ilie A.; Boucher A.; Park J.; Berghuis A.M.; McKinney R.A.; Orlowski J.;
J. Biol. Chem. 295:7075-7095(2020)
Cited for: VARIANTS MRXSCH PRO-188; ASP-383; 547-GLU--ALA-701 DEL AND 570-TRP--ALA-701 DEL; CHARACTERIZATION OF VARIANTS MRXSCH PRO-188; ASP-383; 547-GLU--ALA-701 DEL AND 570-TRP--ALA-701 DEL; SUBCELLULAR LOCATION; GLYCOSYLATION; SUBUNIT; FUNCTION; VARIANTS SER-9 AND GLN-568; CHARACTERIZATION OF VARIANTS SER-9 AND GLN-568;
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.