Sequence information
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:
RKFKNSSYFPGKLRRVIGDF
G VPISILIMVLVDFFIQDTYT
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 RKFKNSSYFPGKLRRVIGDFG VPISILIMVLVDFFIQDTYT
Mouse RKFKNSTYFPGKLRRVIGDFG VPISILIMVLVDSFIKGTYT
Rat RKFKNSTYFPGKLRRVIGDFG VPISILIMVLVDTFIKNTYT
Chicken RQFKNSVFLPGKVRRLIGDFG VPISIFVMALADFFIKDTYT
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
Site
590 – 590
Important for anion transport
Helix
609 – 623
Literature citations
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;
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.