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:
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 NTALLSLVLMAGTFFFAMML RKFKNSSYFPGKLRRVIGDFG
Mouse NTALFSLVLMAGTFLLAMTL RKFKNSTYFPGKLRRVIGDFG
Rat NTALLSLVLMVGTFLLAMML RKFKNSTYFPGKLRRVIGDFG
Chicken NTALLSLVLMAGTFFLALFL RQFKNSVFLPGKVRRLIGDFG
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 – 911 Band 3 anion transport protein
571 – 591 Helical; Name=6
559 – 630 Involved in anion transport
590 – 590 Important for anion transport
570 – 593
Familial distal renal tubular acidosis is associated with mutations in the red cell anion exchanger (Band 3, AE1) gene.
Bruce L.J.; Cope D.L.; Jones G.K.; Schofield A.E.; Burley M.; Povey S.; Unwin R.J.; Wrong O.; Tanner M.J.;
J. Clin. Invest. 100:1693-1707(1997)
Cited for: VARIANTS AD-DRTA CYS-589; HIS-589 AND PHE-613;
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