Fig. 2
From: COLQ-Congenital myasthenic syndrome in an Iranian cohort: the clinical and genetics spectrum
(A) Mutations in the COLQ gene identified in our patients. The yellow boxes represent the exons but do not reflect the exon length. The novel mutations are marked in red. (B) Three COLQ domains [1]: conserved domains of COLQ include an N-terminal proline-rich attachment domain (PRAD) [2], a central collagen domain that contains two heparan sulfate proteoglycan binding (HSPBD) domains, and [3] a C-terminal region