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Fig. 5 | BMC Medical Genetics

Fig. 5

From: Novel mutations identified in Chinese families with autosomal dominant congenital cataracts by targeted next-generation sequencing

Fig. 5

Three missense mutations (F52 L in GJA8 of Family 1, T511 M in EPHA2 of Family 4 and R119H in HSF4 of Family 5) were simulated by means of SWISS-MODEL and were represented with Ribbon model. The proteins were colored by element: a-helix = blue, b-stand = purple, turn = pink. Wild and mutated amino acids were labeled in green. The amino acids that interacted with the mutation sites with hydrogen bonding were marked in yellow. (a). Substitution of F52 L in GJA8 disturbed the core structure domain and influenced the conformation of the protein. (b). Substitutions of T511 M in EPHA2 destroyed the H-bonding between T511 and N435/Q515. (c). Substitution of R119H in HSF4 destroyed the H-bonding between wild-type R119 and L124

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BMC Medical Genetics

ISSN: 1471-2350

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