UniProtKB/Swiss-Prot O15078: Variant p.Ala1566Pro

Centrosomal protein of 290 kDa
Gene: CEP290
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Variant information Variant position:

1566 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

US 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 Alanine (A) to Proline (P) at position 1566 (A1566P, p.Ala1566Pro). 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 small size and hydrophobic (A) to medium size and hydrophobic (P) 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
Variant description:

In LCA10; uncertain significance. Any additional useful information about the variant.

Sequence information Variant position:

1566 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

2479 The length of the canonical sequence.
Location on the sequence:

QARLNQKEEVLKKYQRLLEK A REEQREIVKKHEEDLHILHH 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                         QARLNQKEEVLKKYQRLLEKAREEQREIVKKH---EEDLHILHH

Mouse                         QARLNHKEEVLKKYQHLLEKAREEQREIVKKH---EEDLHV

Zebrafish                     QGRLDQKEEVLKKYQNLLGKARQEQEEIAKRH---EEEVRA

Drosophila                    HTLLLEKDQSIQKYQDLLQTERDQSQQALSKQVAENESLRA

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 – 2479	Centrosomal protein of 290 kDa
Coiled coil	1533 – 1584

Literature citations
Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes.
Coppieters F.; Casteels I.; Meire F.; De Jaegere S.; Hooghe S.; van Regemorter N.; Van Esch H.; Matuleviciene A.; Nunes L.; Meersschaut V.; Walraedt S.; Standaert L.; Coucke P.; Hoeben H.; Kroes H.Y.; Vande Walle J.; de Ravel T.; Leroy B.P.; De Baere E.;
Hum. Mutat. 31:E1709-E1766(2010)
Cited for: VARIANTS SLSN6 CYS-7; 1465-ARG--TYR-2479 DEL AND 1575-LYS--TYR-2479 DEL; VARIANTS LCA10 108-ARG--TYR-2479 DEL; 899-GLN--TYR-2479 DEL; 1465-ARG--TYR-2479 DEL; PRO-1566; 1575-LYS--TYR-2479 DEL; PRO-1694 AND 1782-ARG--TYR-2479 DEL;

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.