rs869312862
This is a variant in the AMOT gene that changes a glutamine to an histidine.
▶ClinVar annotation
Cerebral visual impairment and intellectual disability
View on ClinVar →About AMOT
This gene belongs to the motin family of angiostatin binding proteins characterized by conserved coiled-coil domains and C-terminal PDZ binding motifs. The encoded protein is expressed predominantly in endothelial cells of capillaries as well as larger vessels of the placenta where it may mediate the inhibitory effect of angiostatin on tube formation and the migration of endothelial cells toward growth factors during the formation of new blood vessels. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
View all AMOT variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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