The domain within your query sequence starts at position 2894 and ends at position 3207; the E-value for the Joubert domain shown below is 1.9e-136.
QLQVTGLTDIADIIGDLITKSGVSSHELGLTECQARSISRIQRPPDRGPRRTAEERREIK AWMRRKQKERMSEYLGQLAERRGRERNPFCPTSSPFYMTSRQIRQRQKMKREKDRLQLSK HYSQRLSQAYSLMNELLSDSAHITAPAENPLPPGPYRRQRGSSPKRENAHGQSLPVNRPG GDRHISRSSHLCKGQPRGSSQLRGSQPPCQSQKPLRSRGAAGVGPPVQQACREDEREEMV VSPWTLPSEIHRILHGRPESLLQDMSPADEEEPEPPLLAGGMDSVSESTGSILSKLDWKA VEDMVASVEDKNLS
Joubert |
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PFAM accession number: | PF15392 |
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Interpro abstract (IPR028236): | This family of proteins, which is found in eukaryotes, has no known function. However, mutations in the gene lead to Joubert's Syndrome, a ciliopathy characterised by a distinctive mid-hindbrain malformation, developmental delay with hypotonia, ocular-motor apraxia, and breathing abnormalities [ (PUBMED:22425360) (PUBMED:25877302) ]. |
This is a PFAM domain. For full annotation and more information, please see the PFAM entry Joubert