Variant position: 239 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 EVQWLKLEKMINTLILNYCQ CLLKKEEYYEVLEHTSDILRH
Rhesus macaque EVQWLKLEKMINTLTLNYCQ CLLKKEEYYEVLEHTSDILRH
Mouse EVEWLKLEKMINTLILNYCQ CLLKKEEYYEVLEHTSDILRH
Rat EVEWLKLEKMINTLILNYCQ CLLKKEEYYEVLEHTSDILRH
Bovine EVQWLKLEKMINTLILNYCQ CLLKKEEYYEVLEHTSDILRH
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.
Mutations in a novel photoreceptor-pineal gene on 17p cause Leber congenital amaurosis.
Sohocki M.M.; Bowne S.J.; Sullivan L.S.; Blackshaw S.; Cepko C.L.; Payne A.M.; Bhattacharya S.S.; Khaliq S.; Mehdi Q.; Birch D.G.; Harrison W.R.; Elder F.F.B.; Heckenlively J.R.; Daiger S.P.;
Nat. Genet. 24:79-83(2000)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1); VARIANT HIS-90; VARIANT LCA4 ARG-239;
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;
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.