Fig. 4
From: Clinical relevance of targeted exome sequencing in patients with rare syndromic short stature
Pedigree and molecular and protein structural analyses of patient K16 with MED13L syndrome. a A novel missense variant, c.5444C>T (p.T1815M) (NM_015335.4), in the MED13L gene, was identified in the mother and three daughters. T1815M is located on the mediator complex subunit 13 C-terminus and is highly conserved across species. Sequences were aligned using blastp [https://blast.ncbi.nlm.nih.gov/]; b wild-type and mutant residues (T185M) in the MED13L protein are shown in light green and are also represented as sticks alongside the surrounding residues, indicating any type of interaction. Red dots represent hydrogen bonds, orange dots indicate weak hydrogen bonds, and green dots hydrophobic contacts. Protein crystallization predicted that the T1815M variant on the surface of the protein affects hydrogen bonds and hydrophobic interactions with a nearby residue to decrease the stability of an alpha-helix. The crystal structure of the domain from wild-type MED13L was generated using SWISS-MODEL [https://swissmodel.expasy.org/] and depicted as a cartoon representation. All structural images were generated using PyMOL (https://pymol.org/)