Variant position: 8 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 320 The length of the canonical sequence.
Location on the sequence:
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: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human MADEKTF RIGFIVLGLFLLALGTFLMSH
Mouse MADEKTF RIGFIVLGLFLLSLGTFLMSH
Rat MADEKTF RIGFIVLGLFLLSLGTFLMSH
Sequence annotation in neighborhood: 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.
Type Positions Description
1 – 320 Barttin
6 – 26 Helical
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 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; SUBCELLULAR LOCATION; CHARACTERIZATION OF VARIANTS BARTS4A LEU-8; TRP-8 AND SER-10;
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;
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