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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P51795: Variant p.Trp617Gly

H(+)/Cl(-) exchange transporter 5
Gene: CLCN5
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Variant information Variant position: help 617 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 Tryptophan (W) to Glycine (G) at position 617 (W617G, p.Trp617Gly). 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 aromatic (W) to glycine (G) 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 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 reduced 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 617 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 ELTGGLEYIVPLMAAAMTSK W VADALGREGIYDAHIRLNGY 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                         ELTGGLEYIVPLMAAAMTSKWVADALGREGIYDAHIRLNGY

Mouse                         ELTGGLEYIVPLMAAAMTSKWVADALGREGIYDAHIRLNGY

Rat                           ELTGGLEYIVPLMAAAMTSKWVADALGREGIYDAHIRLNGY

Pig                           ELTGGLEYIVPLMAAAMTSKWVADALGREGIYDAHIRLNGY

Rabbit                        ELTGGLEYIVPLMAAAMTSKWVADALGREGIYDAHIRLNGY

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 605 – 622 Helical
Binding site 628 – 628



Literature citations
A missense mutation in the chloride/proton ClC-5 antiporter gene results in increased expression of an alternative mRNA form that lacks exons 10 and 11. Identification of seven new CLCN5 mutations in patients with Dent's disease.
Ramos-Trujillo E.; Gonzalez-Acosta H.; Flores C.; Garcia-Nieto V.; Guillen E.; Gracia S.; Vicente C.; Espinosa L.; Maseda M.A.; Santos F.; Camacho J.A.; Claverie-Martin F.;
J. Hum. Genet. 52:255-261(2007)
Cited for: VARIANTS DENT1 ARG-289; LEU-343 AND GLY-617; 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 XLRHR 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.