Variant position: 609 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 RKFKNSSYFPGKLRRVIGDF GVPISILIMVLVDFFIQDTYT
Mouse RKFKNSTYFPGKLRRVIGDF GVPISILIMVLVDSFIKGTYT
Rat RKFKNSTYFPGKLRRVIGDF GVPISILIMVLVDTFIKNTYT
Chicken RQFKNSVFLPGKVRRLIGDF GVPISIFVMALADFFIKDTYT
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
590 – 590 Important for anion transport
609 – 623
A novel missense mutation in AE1 causing autosomal dominant distal renal tubular acidosis retains normal transport function but is mistargeted in polarized epithelial cells.
Rungroj N.; Devonald M.A.J.; Cuthbert A.W.; Reimann F.; Akkarapatumwong V.; Yenchitsomanus P.-T.; Bennett W.M.; Karet F.E.;
J. Biol. Chem. 279:13833-13838(2004)
Cited for: VARIANT DRTA1 ARG-609; FUNCTION; SUBCELLULAR LOCATION; CHARACTERIZATION OF VARIANT DRTA1 ARG-609;
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.