COL3A1 Back

collagen, type III, alpha 1 (Ehlers-Danlos syndrome type IV, autosomal dominant)

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NCBI Description of COL3A1
This gene encodes the pro-alpha1 chains of type III collagen, a fibrillar collagen that is found in extensible connective tissues such as skin, lung, uterus, intestine and the vascular system, frequently in association with type I collagen. Mutations in this gene are associated with Ehlers-Danlos syndrome types IV, and with aortic and arterial aneurysms. Two transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene. [provided by R. Dalgleish, Feb 2008].

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Figure notes


• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


Legend

COL3A1 is highly significantly mutated in
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COL3A1 is significantly mutated in
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COL3A1 is near significance in
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Click on a tumor type to see its full list of significant genes.

Data details


• Mutation list for COL3A1