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Fig. 3 | BMC Pediatrics

Fig. 3

From: Relevance of polymorphisms in MC4R and BDNF in short normal stature

Fig. 3

Structural homology model of MC4R with positions of naturally occurring mutations. MC4R homology model [58] was used to visualize the wild-type positions of known pathogenic single side-chain substitutions (according to the review of [31], magenta side-chains, only few are labeled as examples). The MC4R mutant p.Met215Ile is highlighted. The methionine (red stick side-chain) is located in the transmembrane (TM) helix 5. Several mutations are reported to have selective influence on different signalling pathways induced by MC4R [31]. Those which are characterized by a selective impairment of the ERK pathway are coloured in cyan

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