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:

LP/P [Disclaimer]

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 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

Variant description:

In COD3 and CORD14.

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 CORD14 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;

Characterization of GUCA1A-associated dominant cone/cone-rod dystrophy: low prevalence among Japanese patients with inherited retinal dystrophies.
Mizobuchi K.; Hayashi T.; Katagiri S.; Yoshitake K.; Fujinami K.; Yang L.; Kuniyoshi K.; Shinoda K.; Machida S.; Kondo M.; Ueno S.; Terasaki H.; Matsuura T.; Tsunoda K.; Iwata T.; Nakano T.;
Sci. Rep. 9:16851-16851(2019)
Cited for: VARIANTS COD3 ILE-42; GLU-68; ILE-80; ASN-99; SER-99; PHE-151 AND ARG-184;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P43080: Variant p.Leu151Phe