Variant position: 471 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1079 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 KRKAPFFASDFYDALNIQAL SAILFIYLATVTNAITFGGLL
Mouse KRKAPFFASDFYDALNIQAL SAILFIYLATVTNAITFGGLL
Rat KRKAPFFASDFYDALNIQAL SAILFIYLATVTNAITFGGLL
Pig KRKAPFFASDFYDALNIQAL SAILFIYLATVTNAITFGGLL
Bovine KRKAPFFASDFYDALNIQAL SAILFIYLATVTNAITFGGLL
Rabbit KRKAPFFASDFYDALNIQSL SAILFIYLATVTNAITFGGLL
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 – 1079 Electrogenic sodium bicarbonate cotransporter 1
467 – 491 Helical; Name=1
477 – 477 Y -> F. Moderate reduction of the sodium-dependent ion transport activity.
A novel missense mutation in the sodium bicarbonate cotransporter (NBCe1/SLC4A4) causes proximal tubular acidosis and glaucoma through ion transport defects.
Dinour D.; Chang M.-H.; Satoh J.; Smith B.L.; Angle N.; Knecht A.; Serban I.; Holtzman E.J.; Romero M.F.;
J. Biol. Chem. 279:52238-52246(2004)
Cited for: VARIANT PRTA-OA LEU-471;
Missense mutations in Na+:HCO3- cotransporter NBC1 show abnormal trafficking in polarized kidney cells: a basis of proximal renal tubular acidosis.
Li H.C.; Szigligeti P.; Worrell R.T.; Matthews J.B.; Conforti L.; Soleimani M.;
Am. J. Physiol. 289:F61-F71(2005)
Cited for: VARIANTS PRTA-OA SER-342; LEU-471 AND HIS-554; MUTAGENESIS OF GLU-135;
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