UniProtKB/Swiss-Prot Q13351: Variant p.Pro338Ser

Krueppel-like factor 1
Gene: KLF1
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Variant information Variant position:

338 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B 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:

From Proline (P) to Serine (S) at position 338 (P338S, p.Pro338Ser). 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:

Change from medium size and hydrophobic (P) to small size and polar (S) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-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
Polymorphism:

Genetic variations in KLF1 underlie the fetal hemoglobin quantitative trait locus 6 (HBFQTL6) [MIM:613566]. Classic hereditary persistence of fetal hemoglobin (HPFH) is characterized by a substantial elevation of fetal hemoglobin (HbF) in adult red blood cells. There are no other phenotypic or hematologic manifestations. In healthy adults, fetal hemoglobin (HbF) is present at residual levels (less than 0.06% of total hemoglobin) with over 20-fold variation. Ten to fifteen percent of adults fall within the upper tail of the distribution.Genetic variations in KLF1 underlie the blood group-Lutheran inhibitor (In(Lu)) phenotype [MIM:111150]; also known as dominant Lu (a-b-) phenotype. In(Lu) is characterized phenotypically by the apparent absence of the Lu antigen (BCAM) on red blood cells during serologic tests: Lu(a-b-). - Additional information on the polymorphism described.
Variant description:

Found in a patient with autosomal recessive microcytic hypochromic anemia and increased fetal hemoglobin; with microcytic hypochromic anemia; no effect on protein abundance; no effect on protein localization; decreased transcriptional activity. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs387907599 [ dbSNP | Ensembl ]

Sequence information Variant position:

338 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

362 The length of the canonical sequence.
Location on the sequence:

WRFARSDELTRHYRKHTGQR P FRCQLCPRAFSRSDHLALHM 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                         WRFARSDELTRHY---------RKHTG-QRPFR------------------CQL-------CPRAFS-------------RSDHLALHM

Mouse                         WRFARSDELTRHY---------RKHTG-HRPFC--------

Zebrafish                     WKFARSDELTRHF---------RKHTG-QKPYE--------

Caenorhabditis elegans        WRFARSDELTRHY---------RKHTG-DRPFK--------

Fission yeast                 VSIKHAVDMVEAFLGGDMEYDVQNETGLHRPWCLYVSTLIL

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 – 362	Krueppel-like factor 1

Literature citations
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.