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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q8WZ55: Variant p.Gly10Ser

Barttin
Gene: BSND
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Variant information Variant position: help 10 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 Serine (S) at position 10 (G10S, p.Gly10Ser). 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 small size and polar (S) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 0 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 BARTS4A; intracellular but some plasma membrane localization as well; fails to activate CLCNKA and CLCNKB channels. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 10 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 320 The length of the canonical sequence.
Location on the sequence: help MADEKTFRI G FIVLGLFLLALGTFLMSHDR 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                         MADEKTFRIGFIVLGLFLLALGTFLMSHDR

Mouse                         MADEKTFRIGFIVLGLFLLSLGTFLMSHDR

Rat                           MADEKTFRIGFIVLGLFLLSLGTFLMSHDR
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 – 320 Barttin
Transmembrane 6 – 26 Helical
Region 1 – 72 Regulates channel membrane trafficking and ion conductance



Literature citations
Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure.
Birkenhaeger R.; Otto E.; Schuermann M.J.; Vollmer M.; Ruf E.-M.; Maier-Lutz I.; Beekmann F.; Fekete A.; Omran H.; Feldmann D.; Milford D.V.; Jeck N.; Konrad M.; Landau D.; Knoers N.V.A.M.; Antignac C.; Sudbrak R.; Kispert A.; Hildebrandt F.;
Nat. Genet. 29:310-314(2001)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; TISSUE SPECIFICITY; VARIANTS BARTS4A LEU-8; TRP-8 AND SER-10; Barttin is a Cl- channel beta-subunit crucial for renal Cl-reabsorption and inner ear K+ secretion.
Estevez R.; Boettger T.; Stein V.; Birkenhaeger R.; Otto E.; Hildebrandt F.; Jentsch T.J.;
Nature 414:558-561(2001)
Cited for: FUNCTION; MUTAGENESIS OF TYR-98; VARIANT BARTS4A SER-10; CHARACTERIZATION OF VARIANTS BARTS4A LEU-8; TRP-8 AND ARG-47; Barttin increases surface expression and changes current properties of ClC-K channels.
Waldegger S.; Jeck N.; Barth P.; Peters M.; Vitzthum H.; Wolf K.; Kurtz A.; Konrad M.; Seyberth H.W.;
Pflugers Arch. 444:411-418(2002)
Cited for: FUNCTION; SUBUNIT; INTERACTION WITH CLCNKA AND CLCNKB; VARIANT BARTS4A SER-10; CHARACTERIZATION OF VARIANTS BARTS4A LEU-8 AND TRP-8; Molecular mechanisms of Bartter syndrome caused by mutations in the BSND gene.
Hayama A.; Rai T.; Sasaki S.; Uchida S.;
Histochem. Cell Biol. 119:485-493(2003)
Cited for: MUTAGENESIS OF TYR-98; CHARACTERIZATION OF VARIANTS BARTS4A LEU-8 AND SER-10; Disease-causing dysfunctions of barttin in Bartter syndrome type IV.
Janssen A.G.; Scholl U.; Domeyer C.; Nothmann D.; Leinenweber A.; Fahlke C.;
J. Am. Soc. Nephrol. 20:145-153(2009)
Cited for: FUNCTION; SUBCELLULAR LOCATION; CHARACTERIZATION OF VARIANTS BARTS4A LEU-8; TRP-8; SER-10; 32-GLN--GLY-320 DEL; ARG-47 AND 88-GLU--GLY-320 DEL;
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.