Variant position: 547 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 746 The length of the canonical sequence.
Location on the sequence:
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: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human ELTGGLEYIVPLMAAAMTSK WVADALGREGIYDAHIRLNGY
Mouse ELTGGLEYIVPLMAAAMTSK WVADALGREGIYDAHIRLNGY
Rat ELTGGLEYIVPLMAAAMTSK WVADALGREGIYDAHIRLNGY
Pig ELTGGLEYIVPLMAAAMTSK WVADALGREGIYDAHIRLNGY
Rabbit ELTGGLEYIVPLMAAAMTSK WVADALGREGIYDAHIRLNGY
Sequence annotation in neighborhood: 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.
Type Positions Description
1 – 746 H(+)/Cl(-) exchange transporter 5
535 – 552 Helical
558 – 558 Chloride
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 NPHL2 ARG-219; LEU-273 AND GLY-547;
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 NPHL2 PRO-225; VAL-260; CYS-272; PHE-278; LYS-340; ARG-513; GLU-546 AND GLY-547; CHARACTERIZATION OF VARIANT XLRHR LEU-244;
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.