Variant position: 90 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 EVWEILLTSMRVHEVAEFWC DTIHTGVYPILSRSLRQMAQG
Rhesus macaque EVWEILLTSMRVHEVAEFWC DTIHTGVYPILSRSLRQMAQG
Mouse EVWETLLTSMRLGEVAEFWC DTIHTGVYPMLSRSLRQVAEG
Rat EVWETLLTSMRLGEVAEFWC DTIHTGVYPMLSRSLRQVAEG
Bovine EVWEILLTSMRVSEVAEFWC DTIHTGVYPILSRSLRQMAEG
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
53 – 145 PPIase FKBP-type
33 – 92 Missing. In isoform 2.
79 – 79 M -> T. No interaction with NUB1.
96 – 96 V -> I. No interaction with NUB1.
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;
Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis.
Li L.; Xiao X.; Li S.; Jia X.; Wang P.; Guo X.; Jiao X.; Zhang Q.; Hejtmancik J.F.;
PLoS ONE 6:E19458-E19458(2011)
Cited for: VARIANTS HIS-90 AND GLU-309 DELINS ASP-LEU-ASN-ARG-ARG-GLU-LEU;
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.