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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P51795: Variant p.Gly330Val

H(+)/Cl(-) exchange transporter 5
Gene: CLCN5
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Variant information Variant position: help 330 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 Valine (V) at position 330 (G330V, p.Gly330Val). 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 medium size and hydrophobic (V) 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 DENT1; delayed in processing of the protein and decrease in the stability of the mature complex glycosylated form causing lower cell surface expression; the early endosome distribution is normal; shows abolished current at the plasma membrane. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 330 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 REVLSAAAAAGVSVAFGAPI G GVLFSLEEVSYYFPLKTLWR 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                         REVLSAAAAAGVSVAFGAPIGGVLFSLEEVSYYFPLKTLWR

Mouse                         REVLSAAAAAGVSVAFGAPIGGVLFSLEEVSYYFPLKTLWR

Rat                           REVLSAAAAAGVSVAFGAPIGGVLFSLEEVSYYFPLKTLWR

Pig                           REVLSAAAAAGVSVAFGAPIGGVLFSLEEVSYYFPLKTLWR

Rabbit                        REVLSAAAAAGVSVAFGAPIGGVLFSLEEVSYYFPLKTLWR
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 328 – 336 Helical
Site 338 – 338 Mediates proton transfer from the protein to the inner aqueous phase



Literature citations
Dent's disease and prevalence of renal stones in dialysis patients in Northeastern Italy.
Tosetto E.; Graziotto R.; Artifoni L.; Nachtigal J.; Cascone C.; Conz P.; Piva M.; Dell'Aquila R.; De Paoli Vitali E.; Citron L.; Nalesso F.; Antonello A.; Vertolli U.; Zagatti R.; Lupo A.; D'Angelo A.; Anglani F.; Gambaro G.;
J. Hum. Genet. 51:25-30(2006)
Cited for: VARIANT DENT1 VAL-330; 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.