UniProtKB/Swiss-Prot P58012: Variant p.Trp98Arg

Forkhead box protein L2
Gene: FOXL2
Chromosomal location: 3q23
Variant information

Variant position:  98
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants have been found in patients and disease-association is reported in literature. However, this classification is not a definitive assessment of variant pathogenicity.
  • Polymorphism: No disease-association has been reported.
  • Unclassified: Variants have been found in patients but disease-association remains unclear.

Residue change:  From Tryptophan (W) to Arginine (R) at position 98 (W98R, p.Trp98Arg).
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 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:  -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

Involvement in disease:  Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]: A disorder characterized by eyelid dysplasia, small palpebral fissures, drooping eyelids and a skin fold curving in the mediolateral direction, inferior to the inner canthus. In type I BPSE (BPES1) eyelid abnormalities are associated with female infertility. Affected females show an ovarian deficit due to primary amenorrhea or to premature ovarian failure (POF). In type II BPSE (BPES2) affected individuals show only the eyelid defects. Note=The disease is caused by mutations affecting the gene represented in this entry. There is a mutational hotspot in the region coding for the poly-Ala domain, since 30% of all mutations in the ORF lead to poly-Ala expansions, resulting mainly in BPES type II.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  In BPES.
Any additional useful information about the variant.



Sequence information

Variant position:  98
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  376
The length of the canonical sequence.

Location on the sequence:   SGIYQYIIAKFPFYEKNKKG  W QNSIRHNLSLNECFIKVPRE
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                         SGIYQYIIAKFPFYEKNKKGWQNSIRHNLSLNECFIKVPRE

Mouse                         SGIYQYIIAKFPFYEKNKKGWQNSIRHNLSLNECFIKVPRE

Pig                           SGIYQYIIAKFPFYEKNKKGWQNSIRHNLSLNECFIKVPRE

Bovine                        SGIYQYIIAKFPFYEKNKKGWQNSIRHNLSLNECFIKVPRE

Rabbit                        SGIYQYIIAKFPFYEKNKKGWQNSIRHNLSLNECFIKVPRE

Goat                          SGIYQYIIAKFPFYEKNKKGWQNSIRHNLSLNECFIKVPRE

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.

TypePositionsDescription
Chain 1 – 376 Forkhead box protein L2
DNA binding 54 – 148 Fork-head


Literature citations

Differential functional effects of novel mutations of the transcription factor FOXL2 in BPES patients.
Nallathambi J.; Laissue P.; Batista F.; Benayoun B.A.; Lesaffre C.; Moumne L.; Pandaranayaka P.E.; Usha K.; Krishnaswamy S.; Sundaresan P.; Veitia R.A.;
Hum. Mutat. 29:E123-E131(2008)
Cited for: VARIANTS BPES ARG-98; PRO-108; CYS-215; CYS-217 AND ALA-ALA-ALA-ALA-ALA-ALA-ALA-ALA-ALA-ALA-234 INS; VARIANT GLY-179; CHARACTERIZATION OF VARIANTS BPES PRO-108 AND CYS-217;

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.