Variant position: 731 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 GMGGVAALFGMPWLSATTVR SVTHANALTVMGKASTPGAAA
Mouse GMGGVAALFGMPWLSATTVR SVTHANALTVMGKASGPGAAA
Rat GMGGVAALFGMPWLSATTVR SVTHANALTVMGKASGPGAAA
Chicken AMGGLAALFGMPWLSATTVR TITHANALTVVGKSAVPGERA
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
720 – 737 Discontinuously helical; Name=10
728 – 735
Monovalent cation leaks in human red cells caused by single amino-acid substitutions in the transport domain of the band 3 chloride-bicarbonate exchanger, AE1.
Bruce L.J.; Robinson H.C.; Guizouarn H.; Borgese F.; Harrison P.; King M.-J.; Goede J.S.; Coles S.E.; Gore D.M.; Lutz H.U.; Ficarella R.; Layton D.M.; Iolascon A.; Ellory J.C.; Stewart G.W.;
Nat. Genet. 37:1258-1263(2005)
Cited for: INVOLVEMENT IN CHC AND SPH4; VARIANT GLU-56; VARIANTS CHC PRO-687; PRO-731 AND ARG-734; VARIANTS SPH4 TYR-705 AND GLN-760; CHARACTERIZATION OF VARIANTS CHC PRO-687; PRO-731 AND ARG-734; CHARACTERIZATION OF VARIANTS SPH4 TYR-705 AND GLN-760;
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.