Variant position: 302 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 384 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 EAKADLQKVLELEPSMQKAV RRELRLLENRMAEKQEEERLR
Rhesus macaque EAKADLQKVLELEPSMQKAV RRELRLLENRMAEKQEEERLR
Mouse EAKADLEKVLELEPSMRKAV LRELRLLESRLADKQEEERQR
Rat EAKADLEKVLELEPSMRKAV LRELRLLESRLADKQEEERQR
Bovine EAKADLEKVLELEPSMRKAV QRELRLLENRLEEKREEERLR
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 – 384 Aryl-hydrocarbon-interacting protein-like 1
298 – 312
The inherited blindness associated protein AIPL1 interacts with the cell cycle regulator protein NUB1.
Akey D.T.; Zhu X.; Dyer M.; Li A.; Sorensen A.; Blackshaw S.; Fukuda-Kamitani T.; Daiger S.P.; Craft C.M.; Kamitani T.; Sohocki M.M.;
Hum. Mol. Genet. 11:2723-2733(2002)
Cited for: INTERACTION WITH NUB1; SUBCELLULAR LOCATION; TISSUE SPECIFICITY; MUTAGENESIS OF ARG-53; MET-79; VAL-96; ALA-197; ILE-206 AND GLY-262; CHARACTERIZATION OF VARIANT LEU-302; CHARACTERIZATION OF VARIANT LCA4 ARG-239;
Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients.
Simonelli F.; Ziviello C.; Testa F.; Rossi S.; Fazzi E.; Bianchi P.E.; Fossarello M.; Signorini S.; Bertone C.; Galantuomo S.; Brancati F.; Valente E.M.; Ciccodicola A.; Rinaldi E.; Auricchio A.; Banfi S.;
Invest. Ophthalmol. Vis. Sci. 48:4284-4290(2007)
Cited for: VARIANT LCA4 HIS-270; VARIANT LEU-302;
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.