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Fig. 1 | BMC Medical Genetics

Fig. 1

From: Homozygous missense variant in the TTN gene causing autosomal recessive limb-girdle muscular dystrophy type 10

Fig. 1

a A consanguineous pedigree showing two affected members (IV:3 and IV:5) in the fourth generation having limb girdle muscular dystrophy. Affected individuals in the pedigree are shown with shaded symbols and unaffected with open symbols. Double lines indicate consanguineous union. b Sequence chromatogram of the TTN gene is showing segregation of c.98807G > A; p. Arg32936His in all family members c Ribbon representation of three-dimensional structure of human titin with close-up view of mutant (right) and wild type (left) at position 32,936 showing the local conformation induced by the substitution of arginine by histidine. d Ramachandran plots of wild and mutant types. e Schematic view of the functional domain of the TTN gene and localization of known mutation (Arg32936His). The novel missense variant p. Arg32936His reported here is indicated in red localized in the M domain. f The panel also shows the evolutionary conservation of Arg32936 across different species

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