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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q13351: Variant p.Ala298Pro

Krueppel-like factor 1
Gene: KLF1
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Variant information Variant position: help 298 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help US 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 Alanine (A) to Proline (P) at position 298 (A298P, p.Ala298Pro). 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 small size and hydrophobic (A) to medium size and hydrophobic (P) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -1 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 Found in a patient with autosomal recessive microcytic hypochromic anemia and increased fetal hemoglobin; uncertain significance; no effect on protein abundance; no effect on protein localization; decreased transcriptional activity. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 298 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 362 The length of the canonical sequence.
Location on the sequence: help AHTCAHPGCGKSYTKSSHLK A HLRTHTGEKPYACTWEGCGW 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                         AHTCA-----------------------------------------HP---GCGKSYTKSSHLKAHL-----------------RTHTGEKPYACTW---EGCGW

Mouse                         AHTCG------------------------------------

Zebrafish                     VHSCE------------------------------------

Caenorhabditis elegans        LHHCT------------------------------------

Fission yeast                 LGIVENIMQNNGTNLKNWRILLKASYKFWLRTYRVFFLNNG

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 1 – 362 Krueppel-like factor 1
Zinc finger 279 – 303 C2H2-type 1
Modified residue 288 – 288 N6-acetyllysine



Literature citations
KLF1 mutations are relatively more common in a thalassemia endemic region and ameliorate the severity of beta-thalassemia.
Liu D.; Zhang X.; Yu L.; Cai R.; Ma X.; Zheng C.; Zhou Y.; Liu Q.; Wei X.; Lin L.; Yan T.; Huang J.; Mohandas N.; An X.; Xu X.;
Blood 124:803-811(2014)
Cited for: VARIANTS LYS-5; PRO-298; ASP-299; ARG-334 AND TYR-341; Compound heterozygosity for KLF1 mutations is associated with microcytic hypochromic anemia and increased fetal hemoglobin.
Huang J.; Zhang X.; Liu D.; Wei X.; Shang X.; Xiong F.; Yu L.; Yin X.; Xu X.;
Eur. J. Hum. Genet. 23:1341-1348(2015)
Cited for: VARIANTS PRO-298 AND SER-338; CHARACTERIZATION OF VARIANTS PRO-298 AND SER-338; FUNCTION; SUBCELLULAR LOCATION;
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.