UniProtKB/SwissProt variant VAR

Variant information

Variant position:

151

The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:

Disease [Disclaimer]

The variants are classified into three categories: Disease, Polymorphism and Unclassified.

Disease: Variants implicated in disease according to literature reports.
Polymorphism: Variants not reported to be implicated in disease.
Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:

From Leucine (L) to Phenylalanine (F) at position 151 (L151F, p.Leu151Phe).

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 hydrophobic (L) to large size and aromatic (F)

The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:

0

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

Involvement in disease:

Cone dystrophy 3 (COD3) [MIM:602093]: An autosomal dominant cone dystrophy. Cone dystrophies are retinal dystrophies characterized by progressive degeneration of the cone photoreceptors with preservation of rod function, as indicated by electroretinogram. However, some rod involvement may be present in some cone dystrophies, particularly at late stage. Affected individuals suffer from photophobia, loss of visual acuity, color vision and central visual field. Another sign is the absence of macular lesions for many years. Cone dystrophies are distinguished from the cone-rod dystrophies in which some loss of peripheral vision also occurs. {ECO:0000269|PubMed:11108966, ECO:0000269|PubMed:11146732, ECO:0000269|PubMed:11484154, ECO:0000269|PubMed:15505030, ECO:0000269|PubMed:15735604, ECO:0000269|PubMed:15790869, ECO:0000269|PubMed:19459154, ECO:0000269|PubMed:9425234}. Note=The disease is caused by mutations affecting the gene represented in this entry.

The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:

In COD3.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs121434631 [ dbSNP | Ensembl ]

Sequence information

Variant position:

151

The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:

201

The length of the canonical sequence.

Location on the sequence:

TAEEFTDTVFSKIDVNGDGE L SLEEFIEGVQKDQMLLDTLT

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                         TAEEFTDTVFSKIDVNGDGELSLEEFIEGVQKDQMLLDTLT

Mouse                         SAEEFTDTVFAKIDINGDGELSLEEFMEGVQKDQMLLDTLT

Bovine                        TAEEFTDTVFSKIDVNGDGELSLEEFMEGVQKDQMLLDTLT

Chicken                       TAEEFTNMVFDKIDINGDGELSLEEFMEGVQKDEVLLDILT

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	2 – 201	Guanylyl cyclase-activating protein 1
Domain	131 – 166	EF-hand 4
Calcium binding	144 – 155	3

Literature citations

A novel GCAP1 missense mutation (L151F) in a large family with autosomal dominant cone-rod dystrophy (adCORD).
Sokal I.; Dupps W.J.; Grassi M.A.; Brown J. Jr.; Affatigato L.M.; Roychowdhury N.; Yang L.; Filipek S.; Palczewski K.; Stone E.M.; Baehr W.;
Invest. Ophthalmol. Vis. Sci. 46:1124-1132(2005)
Cited for: VARIANT COD3 PHE-151;

Autosomal dominant cone dystrophy caused by a novel mutation in the GCAP1 gene (GUCA1A).
Jiang L.; Katz B.J.; Yang Z.; Zhao Y.; Faulkner N.; Hu J.; Baird J.; Baehr W.; Creel D.J.; Zhang K.;
Mol. Vis. 11:143-151(2005)
Cited for: VARIANT COD3 PHE-151;

Mutations in the GUCA1A gene involved in hereditary cone dystrophies impair calcium-mediated regulation of guanylate cyclase.
Kitiratschky V.B.D.; Behnen P.; Kellner U.; Heckenlively J.R.; Zrenner E.; Jaegle H.; Kohl S.; Wissinger B.; Koch K.-W.;
Hum. Mutat. 30:E782-E796(2009)
Cited for: VARIANTS COD3 LYS-89; GLU-100; PHE-151 AND VAL-159; CHARACTERIZATION OF VARIANTS COD3 LYS-89; GLU-100 AND VAL-159; FUNCTION;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P43080: Variant p.Leu151Phe