Variant position: 202 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 2137 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 WCQMKTAGYPHVNVTNFTSS WKDGLAFNALIHKHRPDLIDF
Mouse WCQMKTAGYPHVNVTNFTSS WKDGLAFNALIHKHRPDLIDF
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
2 – 2137 Spectrin beta chain, erythrocytic
173 – 278 Calponin-homology (CH) 2
2 – 275 Actin-binding
Beta spectrin Kissimmee: a spectrin variant associated with autosomal dominant hereditary spherocytosis and defective binding to protein 4.1.
Becker P.S.; Tse W.T.; Lux S.E.; Forget B.G.;
J. Clin. Invest. 92:612-616(1993)
Cited for: INVOLVEMENT IN SPH2; VARIANT SPH2 ARG-202;
Identification of three novel spectrin alpha I/74 mutations in hereditary elliptocytosis: further support for a triple-stranded folding unit model of the spectrin heterodimer contact site.
Parquet N.; Devaux I.; Boulanger L.; Galand C.; Boivin P.; Lecomte M.-C.; Dhermy D.; Garbarz M.;
Cited for: VARIANTS EL3 VAL-2023 AND ARG-2024;
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