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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P51795: Variant p.Ser314Leu

H(+)/Cl(-) exchange transporter 5
Gene: CLCN5
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Variant information Variant position: help 314 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 Serine (S) to Leucine (L) at position 314 (S314L, p.Ser314Leu). 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 small size and polar (S) to medium size and hydrophobic (L) 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 XLHRR; trafficks normally to the cell surface and to early endosomes; displays complex glycosylation at the cell surface like wild-type protein; exhibits reduced current. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 314 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 ILCHCFNKYRKNEAKRREVL S AAAAAGVSVAFGAPIGGVLF 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                         ILCHCFNKYRKNEAKRREVLSAAAAAGVSVAFGAPIGGVLF

Mouse                         ILCHCFNKYRKNEAKRREVLSAAAAAGVSVAFGAPIGGVLF

Rat                           ILCHCFNKYRKNEAKRREVLSAAAAAGVSVAFGAPIGGVLF

Pig                           ILCHCFNKYRKNEAKRREVLSAAAAAGVSVAFGAPIGGVLF

Rabbit                        ILCHRFNKYRKNEAKRREVLSAAAAAGVSVAFGAPIGGVLF
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
Intramembrane 312 – 324 Helical



Literature citations
A common molecular basis for three inherited kidney stone diseases.
Lloyd S.E.; Pearce S.H.S.; Fisher S.E.; Steinmeyer K.; Schwappach B.; Schelnman S.J.; Harding B.; Bolino A.; Devoto M.; Goodyer P.; Rigden S.P.A.; Wrong O.; Jentsch T.J.; Craig I.W.; Thakker R.V.;
Nature 379:445-449(1996)
Cited for: VARIANT XLHRR LEU-314; VARIANT XRN GLU-576; VARIANTS DENT1 ARG-270 AND PRO-590; A second family with XLRH displays the mutation S244L in the CLCN5 gene.
Oudet C.; Martin-Coignard D.; Pannetier S.; Praud E.; Champion G.; Hanauer A.;
Hum. Genet. 99:781-784(1997)
Cited for: VARIANT DENT1 LEU-314; Evidence for genetic heterogeneity in Dent's disease.
Hoopes R.R. Jr.; Raja K.M.; Koich A.; Hueber P.; Reid R.; Knohl S.J.; Scheinman S.J.;
Kidney Int. 65:1615-1620(2004)
Cited for: VARIANTS DENT1 ARG-291; LEU-314; ALA-337; GLY-340; ASP-532; ARG-583; TRP-586; ASN-615; GLU-616 AND SER-727; Phenotypic and genetic heterogeneity in Dent's disease -- the results of an Italian collaborative study.
Tosetto E.; Ghiggeri G.M.; Emma F.; Barbano G.; Carrea A.; Vezzoli G.; Torregrossa R.; Cara M.; Ripanti G.; Ammenti A.; Peruzzi L.; Murer L.; Ratsch I.M.; Citron L.; Gambaro G.; D'angelo A.; Anglani F.;
Nephrol. Dial. Transplant. 21:2452-2463(2006)
Cited for: VARIANTS DENT1 LEU-314; VAL-330; GLU-337 DEL; CYS-342 AND LYS-410; Family history may be misleading in the diagnosis of Dent's disease.
Anglani F.; Bernich P.; Tosetto E.; Cara M.; Lupo A.; Nalesso F.; D'Angelo A.; Gambaro G.;
Urol. Res. 34:61-63(2006)
Cited for: VARIANTS DENT1 LEU-314 AND VAL-330; 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.