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Fig. 2 | Human Genomics

Fig. 2

From: Functional analysis of a novel FOXL2 mutation in blepharophimosis, ptosis, and epicanthus inversus syndrome type II and elucidation of the genotype-phenotype correlation

Fig. 2

Analysis of FOXL2 protein structural alterations at mutation sites. (a) Missense 3D prediction of molecular modeling of the wild-type and mutant variations in FOXL2 c.313 A > C, pN105H. The blue box indicates the location of the amino acid mutation, the structure of the wild-type FOXL2 is shown in red, and the mutant type is shown in blue. (b) The sequence alignments were compared among humans, mice, pigs, cows, rabbits, and goats via UniProt. The results indicated that the residues surrounding N105 of the FOXL2 gene are significantly conserved in all of these species. (c) The FOXL2 protein has a forkhead domain and a poly-Ala tract. The arrow points to the location of the mutation identified in this study.

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Human Genomics

ISSN: 1479-7364