Sequence information
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:
NSSYFPGKLRRVIGDFGVPI
S ILIMVLVDFFIQDTYTQKLS
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 NSSYFPGKLRRVIGDFGVPIS ILIMVLVDFFIQDTYTQKLS
Mouse NSTYFPGKLRRVIGDFGVPIS ILIMVLVDSFIKGTYTQKLS
Rat NSTYFPGKLRRVIGDFGVPIS ILIMVLVDTFIKNTYTQKLS
Chicken NSVFLPGKVRRLIGDFGVPIS IFVMALADFFIKDTYTQKLK
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
603 – 623
Helical; Name=7
Region
559 – 630
Involved in anion transport
Helix
609 – 623
Literature citations
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 DRTA1 CYS-589; HIS-589 AND PHE-613;
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.