Sequence information
Variant position: 285 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:
LFVLLGPEAPHIDYTQLGRA
A ATLMSERVFRIDAYMAQSRG
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 LFVLLGPEAPHIDYTQLGRAA ATLMSERVFRIDAYMAQSRG
Mouse LLVLLGPEAPHVDYTQLGRAA ATLMTERVFRITASMAHNRE
Rat LLVLLGPEAPHIDYTQLGRAA ATLMTERVFRVTASLAQSRG
Chicken VLTVLGPDSPRLSYHEIRRAA ATVMADRVFRRDAYLCGGRA
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
Topological domain
1 – 403
Cytoplasmic
Region
55 – 290
Globular
Mutagenesis
283 – 283
R -> AES. Impairs expression at the cell membrane.
Helix
278 – 290
Literature citations
Characterization of 13 novel band 3 gene defects in hereditary spherocytosis with band 3 deficiency.
Jarolim P.; Murray J.L.; Rubin H.L.; Taylor W.M.; Prchal J.T.; Ballas S.K.; Snyder L.M.; Chrobak L.; Melrose W.D.; Brabec V.; Palek J.;
Blood 88:4366-4374(1996)
Cited for: VARIANTS SPH4 ASP-285; GLU-455; PRO-707; PRO-834 AND MET-837;
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.