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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P11277: Variant p.Trp202Arg

Spectrin beta chain, erythrocytic
Gene: SPTB
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Variant information Variant position: help 202 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance
Residue change: help From Tryptophan (W) to Arginine (R) at position 202 (W202R, p.Trp202Arg). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Change from large size and aromatic (W) to large size and basic (R) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -3 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page
Variant description: help In SPH2; spectrin Kissimmee. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 202 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 2137 The length of the canonical sequence.
Location on the sequence: help WCQMKTAGYPHVNVTNFTSS W KDGLAFNALIHKHRPDLIDF 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         WCQMKTAGYPHVNVTNFTSSWKDGLAFNALIHKHRPDLIDF

Mouse                         WCQMKTAGYPHVNVTNFTSSWKDGLAFNALIHKHRPDLIDF
Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 2 – 2137 Spectrin beta chain, erythrocytic
Domain 173 – 278 Calponin-homology (CH) 2
Region 2 – 275 Actin-binding



Literature citations
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.;
Blood 84:303-308(1994)
Cited for: VARIANTS EL3 VAL-2023 AND ARG-2024; Mutation of a highly conserved residue of betaI spectrin associated with fatal and near-fatal neonatal hemolytic anemia.
Gallagher P.G.; Petruzzi M.J.; Weed S.A.; Zhang Z.; Marchesi S.L.; Mohandas N.; Morrow J.S.; Forget B.G.;
J. Clin. Invest. 99:267-277(1997)
Cited for: VARIANT EL3 ARG-2025;
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.