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. 2013 Dec 6;23(8):2189–2197. doi: 10.1093/hmg/ddt616

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© The Author 2013. Published by Oxford University Press.

This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited.

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Figure 2. — Electropherogram of mutation and conservation of the P196T variant. (A) Representative electropherogram of the ITGB6 mutation in an affected member of family AI-23 alongside the wild-type sequence. Arrows indicate the localization of the variant. (B) Conservation of the P196 residue in orthologues (upper) and paralogues (lower). Conserved residues are highlighted. Human (NP_000879), Chimp (XP_001149234), Macaca (XP_001094740), Dog (XP_857148), Cat (XP_003990848), Horse (XP_001492914), African Elephant (XP_003406050), Wild Boar (NP_001090892), Cow (NP_777123), Guinea Pig (XP_003478725), Sheep (NP_001107244), Rat (NP_001004263), Mouse (NP_067334), Chicken (XP_422037), Zebra Finch (XP_002193421), Frog (NP_001090775), Zebrafish (XP_003199474), Human ITGB1 (NP_596867), ITGB2 (NP_001120963), ITGB3 (NP_000203), ITGB4 (NP_000204), ITGB5 (NP_002204), ITGB7 (NP_000880) and ITGB8 (NP_002205).