Fig. 1: Collagen IV α5 chain. | European Journal of Human Genetics

Fig. 1: Collagen IV α5 chain.

From: Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria

Fig. 1

a Schematic of collagen IV α5 chain with amino and carboxy non-collagenous domains, and intermediate collagenous sequence with Gly-Xaa-Yaa repeats and 23 non-collagenous interruptions. Gly substitutions adjacent to the interruptions are often hypomorphic with a milder clinical phenotype. b Clustal sequence demonstrating that the collagen IV α5 chain is highly conserved between different species both in the collagenous and in the carboxy non-collagenous domains. This sequence also includes a non-collagenous interruption as well as the carboxy terminus (both in boxes). c Clustal sequence demonstrating that the human collagen IV α5, α3 and α4 chains are also conserved.

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