Journal: Human Genetics

Article Title: Identification and functional analysis of rare HECTD1 missense variants in human neural tube defects

doi: 10.1007/s00439-024-02647-4

Figure Lengend Snippet: NTD-associated missense variants in HECTD1 . a Domain structure of HECTD1 showing armadillo (ARM, orange) and ankyrin repeats (ANK, blue), Sad1/UNC (SUN, yellow), mind-bomb domain (MIB, green), Basic Tilted Helix Bundle (BTHB, light blue), and Homologous to the E6-AP Carboxyl Terminus domain (HECT, red) domains. The position of human NTD-associated missense variants and the putative benign p.P2474L variant are indicated. b The multiple-sequence protein alignment was done using MUSCLE. The amino acid sequences adjacent to the NTD-associated missense variants are shown in the various HECTD1 orthologues. Sequences were obtained through Blastp. The accession numbers, % query coverage, and E -value are listed in Table . The amino acids altered by missense variants are absolutely conserved among vertebrates, with some conservation into invertebrate taxonomic groups

Article Snippet: A multiple sequence alignment was performed (Fig. b) utilizing MUSCLE (MUltiple Sequence Comparison by Log- Expectation) to align the sequences of selected species (Starr and Fridolfsson ).

Techniques: Variant Assay, Sequencing