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Fig. 6 | BMC Medical Genetics

Fig. 6

From: Novel mutations in TPM2 and PIEZO2 are responsible for distal arthrogryposis (DA) 2B and mild DA in two Chinese families

Fig. 6

Three substitutions in position 2718 of PIEZO2 are simulated by means of SWISS-MODEL and are represented with Ribbon. a The wild-type amino acid at position 2718 is depicted, with H-bonds shown by yellow dashed lines. b The p.R2718Q substitution maintains the most parts of H-bonding interactions. c Leucine tends to lose H-bond with D2713, and the nearby α-helical structure is disrupted. d Substitution with proline eliminates most of the H-bonds with neighboring amino acids

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BMC Medical Genetics

ISSN: 1471-2350

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