Variant position: 472 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 831 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human KTELKQNNQSLASKKYQSDM YWAQSQDGLGDSAYGSHPGPA
Mouse KPEVKPNHQGLASKKYQSDM YWAQSQDGLGDSAYGSHPGPA
Rat KPEAKQNHQSLASKKYQSDM YWAQSQDGLGDSAYGSHPGPA
Xenopus tropicalis DLQRNSRNQSLASKKYQSDM YWAQSQDGLGDSAYGSHPGPA
Drosophila NLDAAWSAKPTNSYHLQRQL LENPHTASMPELAGKLVAPPA
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
1 – 828 Prickle-like protein 1
Mutations in prickle orthologs cause seizures in flies, mice, and humans.
Tao H.; Manak J.R.; Sowers L.; Mei X.; Kiyonari H.; Abe T.; Dahdaleh N.S.; Yang T.; Wu S.; Chen S.; Fox M.H.; Gurnett C.; Montine T.; Bird T.; Shaffer L.G.; Rosenfeld J.A.; McConnell J.; Madan-Khetarpal S.; Berry-Kravis E.; Griesbach H.; Saneto R.P.; Scott M.P.; Antic D.; Reed J.; Boland R.; Ehaideb S.N.; El-Shanti H.; Mahajan V.B.; Ferguson P.J.; Axelrod J.D.; Lehesjoki A.E.; Fritzsch B.; Slusarski D.C.; Wemmie J.; Ueno N.; Bassuk A.G.;
Am. J. Hum. Genet. 88:138-149(2011)
Cited for: VARIANTS EPM1B GLN-104; HIS-144 AND HIS-472;
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