Variant position: 463 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1881 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 MAARAGHTEVAKYLLQNKAK VNAKAKDDQTPLHCAARIGHT
Mouse MAARAGHTEVAKYLLQNKAK ANAKAKDDQTPLHCAARIGHT
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 – 1881 Ankyrin-1
436 – 465 ANK 13
1 – 827 89 kDa domain
464 – 464 (3S)-3-hydroxyasparagine; by HIF1AN; partial
1 – 1725 Missing. In isoform Mu17, isoform Mu18, isoform Mu19, isoform Mu20, isoform 22 and isoform 23.
Ankyrin-1 mutations are a major cause of dominant and recessive hereditary spherocytosis.
Eber S.W.; Gonzalez J.M.; Lux M.L.; Scarpa A.L.; Tse W.T.; Dornwell M.; Herbers J.; Kugler W.; Oezcan R.; Pekrun A.; Gallagher P.G.; Schroeter W.; Forget B.G.; Lux S.E.;
Nat. Genet. 13:214-218(1996)
Cited for: VARIANT SPH1 ILE-463;
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