Sequence information
Variant position: 589 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 911 The length of the canonical sequence.
Location on the sequence:
NTALLSLVLMAGTFFFAMML
R KFKNSSYFPGKLRRVIGDFG
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 NTALLSLVLMAGTFFFAMMLR KFKNSSYFPGKLRRVIGDFG
Mouse NTALFSLVLMAGTFLLAMTLR KFKNSTYFPGKLRRVIGDFG
Rat NTALLSLVLMVGTFLLAMMLR KFKNSTYFPGKLRRVIGDFG
Chicken NTALLSLVLMAGTFFLALFLR QFKNSVFLPGKVRRLIGDFG
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
Chain
1 – 911
Band 3 anion transport protein
Transmembrane
571 – 591
Helical; Name=6
Region
559 – 630
Involved in anion transport
Site
590 – 590
Important for anion transport
Helix
570 – 593
Literature citations
Mutations in the chloride-bicarbonate exchanger gene AE1 cause autosomal dominant but not autosomal recessive distal renal tubular acidosis.
Karet F.E.; Gainza F.J.; Gyory A.Z.; Unwin R.J.; Wrong O.; Tanner M.J.A.; Nayir A.; Alpay H.; Santos F.; Hulton S.A.; Bakkaloglu A.; Ozen S.; Cunningham M.J.; di Pietro A.; Walker W.G.; Lifton R.P.;
Proc. Natl. Acad. Sci. U.S.A. 95:6337-6342(1998)
Cited for: VARIANTS DRTA1 HIS-589 AND SER-589;
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.