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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q8WZ55: Variant p.Gly47Arg

Barttin
Gene: BSND
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Variant information Variant position: help 47 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 Arginine (R) at position 47 (G47R, p.Gly47Arg). 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 large size and basic (R) 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 BARTS4A; atypical; decreases the number of channels; almost complete loss of ion conductance. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 47 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 SHDRPQVYGTFYAMGSVMVI G GIIWSMCQCYPKITFVPADS 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                         SHDRPQVYGTFYAMGSVMVIGGIIWSMCQCYPKITFVPADS

Mouse                         SHDRPQVYGTFYAMGSVMVIGGVIWSMCQCYPKITFVPADS

Rat                           SHDRPQVYGTFYAMGSIMVIGGVLWSMCQCYPKITFVPADS
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 33 – 53 Helical
Region 1 – 72 Regulates channel membrane trafficking and ion conductance
Lipidation 54 – 54 S-palmitoyl cysteine
Lipidation 56 – 56 S-palmitoyl cysteine
Mutagenesis 54 – 54 C -> S. 38% reduction in palmitoylation. Abolishes palmitoylation; when associated with S-56.
Mutagenesis 56 – 56 C -> S. 74% reduction in palmitoylation. Abolishes palmitoylation; when associated with S-54.



Literature citations
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; 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; Atypical Bartter syndrome with sensorineural deafness with G47R mutation of the beta-subunit for ClC-Ka and ClC-Kb chloride channels, barttin.
Miyamura N.; Matsumoto K.; Taguchi T.; Tokunaga H.; Nishikawa T.; Nishida K.; Toyonaga T.; Sakakida M.; Araki E.;
J. Clin. Endocrinol. Metab. 88:781-786(2003)
Cited for: INVOLVEMENT IN BARTS4A; VARIANT BARTS4A ARG-47; FUNCTION; A compound heterozygous mutation in the BSND gene detected in Bartter syndrome type IV.
Kitanaka S.; Sato U.; Maruyama K.; Igarashi T.;
Pediatr. Nephrol. 21:190-193(2006)
Cited for: INVOLVEMENT IN BARTS4A; VARIANTS BARTS4A 32-GLN--GLY-320 DEL AND ARG-47;
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.