UniProtKB/Swiss-Prot Q9NZN9: Variant p.Asp90His

Aryl-hydrocarbon-interacting protein-like 1
Gene: AIPL1
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Variant information Variant position:

90 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B The variants are classified into three categories: LP/P, LB/B and US.

LP/P: likely pathogenic or pathogenic.
LB/B: likely benign or benign.
US: uncertain significance

Residue change:

From Aspartate (D) to Histidine (H) at position 90 (D90H, p.Asp90His). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties:

Change from medium size and acidic (D) to medium size and polar (H) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-1 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:

Lowest score: -4 (low probability of substitution).
Highest score: 11 (high probability of substitution).

More information can be found on the following page
Other resources:

Links to websites of interest for the variant.

Variant rs12449580 [ dbSNP | Ensembl ]

Sequence information 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:

EVWEILLTSMRVHEVAEFWC D TIHTGVYPILSRSLRQMAQG 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                         EVWEILLTSMRVHEVAEFWCDTIHTGVYPILSRSLRQMAQG

Rhesus macaque                EVWEILLTSMRVHEVAEFWCDTIHTGVYPILSRSLRQMAQG

Mouse                         EVWETLLTSMRLGEVAEFWCDTIHTGVYPMLSRSLRQVAEG

Rat                           EVWETLLTSMRLGEVAEFWCDTIHTGVYPMLSRSLRQVAEG

Bovine                        EVWEILLTSMRVSEVAEFWCDTIHTGVYPILSRSLRQMAEG

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
Chain	1 – 384	Aryl-hydrocarbon-interacting protein-like 1
Domain	53 – 145	PPIase FKBP-type
Alternative sequence	33 – 92	Missing. In isoform 2.
Mutagenesis	79 – 79	M -> T. No interaction with NUB1.
Mutagenesis	96 – 96	V -> I. No interaction with NUB1.

Literature citations
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;

Disclaimer: 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.