Variant position: 613 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 NSSYFPGKLRRVIGDFGVPI SILIMVLVDFFIQDTYTQKLS
Mouse NSTYFPGKLRRVIGDFGVPI SILIMVLVDSFIKGTYTQKLS
Rat NSTYFPGKLRRVIGDFGVPI SILIMVLVDTFIKNTYTQKLS
Chicken NSVFLPGKVRRLIGDFGVPI SIFVMALADFFIKDTYTQKLK
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
603 – 623 Helical; Name=7
559 – 630 Involved in anion transport
609 – 623
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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