<p>(A). Schematic presentation of the distribution of <i>NR5A1</i> mutations associated with POF. DBD: DNA-binding domain, LBD: ligand binding domain, AF2: activation function domain 2. (B). Sequence alignment of SF1 among orthologs with tyrosine residue highlighted.</p
Alignment of genomic sequence surrounding the FIP1L1 c.-127G>T variant and DNA-binding motifs for ET...
<p>The physical map displays the order of functional segments (F), pseudogenes (Ψ), and open reading...
Maturity-onset diabetes of the young type 3 (MODY3) is a non-ketotic form of diabetes associated wit...
<p>(A). Distribution of <i>NR5A1</i> mutations in relation to the functional domains of the protein....
a<p>The table only refers to novel non-synonymous mutations and all mutations are heterozygous.</p><...
<p>Dots (.) indicate the same amino acids as in VR2332 and substitutions are indicated by the amino ...
<p><b>Copyright information:</b></p><p>Taken from "Functional analysis of human mutations in homeodo...
<p>(A) Secondary structure elements are shown at the top of the sequence alignment. Mutated residues...
<p><b>A</b>: 3D presentation of the human GDF5 homodimer (PDB 1waq). The topology of the GDF5 monome...
(A) Occurrence of natural loss-of-function mutations in the FDC1 gene across a collection of 76 POF-...
<p>The domain architecture of CFTR is shown with TMD-transmembrane domain, NBD-nucleotide binding do...
<p>(A). Domain structure of FUS with the C-terminal NLS. The ALS mutations are clustered in the NLS ...
<p>Expanded view of the region from position 0 to 3600 showing the clear plaque mutations. A physica...
<p>Scheme of the main regions of NRG1 isoform ß1 protein and the location of the three variants anal...
<p>(A) Number of polymorphisms (variants occurring in more than 1% sequences examined) at each posit...
Alignment of genomic sequence surrounding the FIP1L1 c.-127G>T variant and DNA-binding motifs for ET...
<p>The physical map displays the order of functional segments (F), pseudogenes (Ψ), and open reading...
Maturity-onset diabetes of the young type 3 (MODY3) is a non-ketotic form of diabetes associated wit...
<p>(A). Distribution of <i>NR5A1</i> mutations in relation to the functional domains of the protein....
a<p>The table only refers to novel non-synonymous mutations and all mutations are heterozygous.</p><...
<p>Dots (.) indicate the same amino acids as in VR2332 and substitutions are indicated by the amino ...
<p><b>Copyright information:</b></p><p>Taken from "Functional analysis of human mutations in homeodo...
<p>(A) Secondary structure elements are shown at the top of the sequence alignment. Mutated residues...
<p><b>A</b>: 3D presentation of the human GDF5 homodimer (PDB 1waq). The topology of the GDF5 monome...
(A) Occurrence of natural loss-of-function mutations in the FDC1 gene across a collection of 76 POF-...
<p>The domain architecture of CFTR is shown with TMD-transmembrane domain, NBD-nucleotide binding do...
<p>(A). Domain structure of FUS with the C-terminal NLS. The ALS mutations are clustered in the NLS ...
<p>Expanded view of the region from position 0 to 3600 showing the clear plaque mutations. A physica...
<p>Scheme of the main regions of NRG1 isoform ß1 protein and the location of the three variants anal...
<p>(A) Number of polymorphisms (variants occurring in more than 1% sequences examined) at each posit...
Alignment of genomic sequence surrounding the FIP1L1 c.-127G>T variant and DNA-binding motifs for ET...
<p>The physical map displays the order of functional segments (F), pseudogenes (Ψ), and open reading...
Maturity-onset diabetes of the young type 3 (MODY3) is a non-ketotic form of diabetes associated wit...