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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P51801: Variant p.Arg438Cys

Chloride channel protein ClC-Kb
Gene: CLCNKB
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Variant information Variant position: help 438 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 Arginine (R) to Cysteine (C) at position 438 (R438C, p.Arg438Cys). 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 large size and basic (R) to medium size and polar (C) 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 BARTS3; loss of channel conductance. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 438 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 687 The length of the canonical sequence.
Location on the sequence: help TIPMPAGYFMPIFVYGAAIG R LFGETLSFIFPEGIVAGGIT 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                         TIPMPAGYFMPIFVYGAAIGRLFGETLSFIFPEGIVAGGIT

Mouse                         TIPIPAGYFLPIFIYGAVIGRLFGEVLSVAFPEGIVAGGRV

Rat                           TIPIPAGYFLPIFVYGAAIGRLFGEVLSLAFPEGIVAGGKV

Rabbit                        TIPMPAGYFLPIFIIGAAIGRLLGEALSVAFPEGIVAGGVI

Xenopus laevis                TLPMPAGYFMPVFVFGAAIGRLVGETVALLYPEGIAADGIV
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 – 687 Chloride channel protein ClC-Kb
Transmembrane 421 – 440 Helical
Binding site 426 – 426



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; TRANSPORTER ACTIVITY; ACTIVITY REGULATION; CHARACTERIZATION OF VARIANTS BARTS3 LEU-124; THR-204; ASP-349; CYS-438; PRO-538 AND MET-560; Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III.
Simon D.B.; Bindra R.S.; Mansfield T.A.; Nelson-Williams C.; Mendonca E.; Stone R.; Schurman S.; Nayir A.; Alpay H.; Bakkaloglu A.; Rodriguez-Soriano J.; Morales J.M.; Sanjad S.A.; Taylor C.M.; Pilz D.; Brem A.; Trachtman H.; Griswold W.; Richard G.A.; John E.; Lifton R.P.;
Nat. Genet. 17:171-178(1997)
Cited for: INVOLVEMENT IN BARTS3; VARIANTS BARTS3 LEU-124; THR-204; ASP-349; HIS-432 AND CYS-438;
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.