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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P51795: Variant p.Leu348Phe

H(+)/Cl(-) exchange transporter 5
Gene: CLCN5
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Variant information Variant position: help 348 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 Phenylalanine (F) at position 348 (L348F, p.Leu348Phe). 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 medium size and hydrophobic (L) to large size and aromatic (F) 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 DENT1; associated with a marked reduction to about 30% of wild-type chloride currents; no significant differences between the expression of the mutated and wild-type protein. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 348 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 816 The length of the canonical sequence.
Location on the sequence: help PIGGVLFSLEEVSYYFPLKT L WRSFFAALVAAFTLRSINPF 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                         PIGGVLFSLEEVSYYFPLKTLWRSFFAALVAAFTLRSINPF

Mouse                         PIGGVLFSLEEVSYYFPLKTLWRSFFAALVAAFTLRSINPF

Rat                           PIGGVLFSLEEVSYYFPLKTLWRSFFAALVAAFTLRSINPF

Pig                           PIGGVLFSLEEVSYYFPLKTLWRSFFAALVAAFTLRSINPF

Rabbit                        PIGGVLFSLEEVSYYFPLKTLWRSFFAALVAAFTLRSINPF
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 – 816 H(+)/Cl(-) exchange transporter 5
Transmembrane 348 – 366 Helical
Site 338 – 338 Mediates proton transfer from the protein to the inner aqueous phase



Literature citations
Functional characterization of renal chloride channel, CLCN5, mutations associated with Dent'sJapan disease.
Igarashi T.; Gunther W.; Sekine T.; Inatomi J.; Shiraga H.; Takahashi S.; Suzuki J.; Tsuru N.; Yanagihara T.; Shimazu M.; Jentsch T.J.; Thakker R.V.;
Kidney Int. 54:1850-1856(1998)
Cited for: VARIANTS DENT1 ARG-340 AND PHE-348; CHARACTERIZATION OF VARIANTS DENT1 ARG-340 AND PHE-348; Heterogeneity in the processing of CLCN5 mutants related to Dent disease.
Grand T.; L'Hoste S.; Mordasini D.; Defontaine N.; Keck M.; Pennaforte T.; Genete M.; Laghmani K.; Teulon J.; Lourdel S.;
Hum. Mutat. 32:476-483(2011)
Cited for: CHARACTERIZATION OF VARIANTS DENT1 PRO-295; VAL-330; CYS-342; PHE-348; LYS-410; ARG-583; GLU-616 AND GLY-617; CHARACTERIZATION OF VARIANT XLHRR LEU-314;
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.