CARNS1 Back

carnosine synthase 1

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NCBI Description of CARNS1
CARNS1 (EC 6.3.2.11), a member of the ATP-grasp family of ATPases, catalyzes the formation of carnosine (beta-alanyl-L-histidine) and homocarnosine (gamma-aminobutyryl-L-histidine), which are found mainly in skeletal muscle and the central nervous system, respectively (Drozak et al., 2010 [PubMed 20097752]).[supplied by OMIM, Apr 2010].

Community Annotation of CARNS1 Add / Edit CARNS1: Annotations

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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

CARNS1 is highly significantly mutated in
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CARNS1 is significantly mutated in
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CARNS1 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 CARNS1