UniProtKB/Swiss-Prot Q13351: Variant p.Ser102Pro

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

102 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 Serine (S) to Proline (P) at position 102 (S102P, p.Ser102Pro). 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 small size and polar (S) to medium size and hydrophobic (P) 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.
Other resources:

Links to websites of interest for the variant.

Variant rs2072597 [ dbSNP | Ensembl ]

Sequence information Variant position:

102 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:

FSGPEPGGAPQTCALAPSEA S GAQYPPPPETLGAYAGGPGL 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                         FSGPEPGGAPQT------------CALA-----P------------------------------------SEASGAQY-----------------PPPPETLGAYAGGPGL---

Mouse                         FPGSESPGTSRT------------CALA-----P-------

Zebrafish                     W-----------------------ASMS-----P-------

Caenorhabditis elegans        TFGNDSGAATSSSSSSVFERQSDFSAFA-----PYKNSHFD

Fission yeast                 FNEGLQSAIAQTGNNYMFTTSRRNNSISGSITIPESDQQIN

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
Region	1 – 110	Disordered

Literature citations
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]; VARIANT PRO-102; A dominant mutation in the gene encoding the erythroid transcription factor KLF1 causes a congenital dyserythropoietic anemia.
Arnaud L.; Saison C.; Helias V.; Lucien N.; Steschenko D.; Giarratana M.C.; Prehu C.; Foliguet B.; Montout L.; de Brevern A.G.; Francina A.; Ripoche P.; Fenneteau O.; Da Costa L.; Peyrard T.; Coghlan G.; Illum N.; Birgens H.; Tamary H.; Iolascon A.; Delaunay J.; Tchernia G.; Cartron J.P.;
Am. J. Hum. Genet. 87:721-727(2010)
Cited for: ROLE IN ERYTHROPOIESIS; FUNCTION AS TRANSCRIPTIONAL ACTIVATOR OF CD44 AND AQP1; SUBCELLULAR LOCATION; VARIANT PRO-102; VARIANT CDAN4 LYS-325; CHARACTERIZATION OF VARIANT CDAN4 LYS-325;

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.