smoothelin-like 1

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NCBI Description of SMTNL1

SMTNL1, which is a member of the smoothelin (SMTN; MIM 602127) family, regulates contraction and relaxation of skeletal and smooth muscle fibers and mediates vascular adaptation to exercise (Wooldridge et al., 2008 [PubMed 18310078]).[supplied by OMIM, Dec 2010]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments.

Community Annotation of SMTNL1 Add / Edit SMTNL1: 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).


SMTNL1 is highly significantly mutated in
SMTNL1 is significantly mutated in
SMTNL1 is near significance in

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Data details

Mutation list for SMTNL1