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UniProtKB/Swiss-Prot P43080 : Variant p.Asn104Lys
Guanylyl cyclase-activating protein 1
Gene: GUCA1A
Variant information
Variant position: 104 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: LP/P [Disclaimer : Variants classification is intended for research purposes only, not for clinical and diagnostic use . The label disease variant is assigned according to literature reports on probable disease-association that can be based on theoretical reasons. This label must not be considered as a definitive proof for the pathogenic role of a variant. ]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 Asparagine (N) to Lysine (K) at position 104 (N104K, p.Asn104Lys).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 polar (N) to large size and basic (K)The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: 0The 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; results in impaired guanylate cyclase regulator activity; at low calcium concentrations the mutant protein stimulates GUCY2D less efficiently than the wild-type but it remains active at high calcium concentrations causing persistent GUCY2D stimulation.Any additional useful information about the variant.
Sequence information
Variant position: 104 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:
LKGKVEQKLRWYFKLYDVDG
N GCIDRDELLTIIQAIRAINP
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 LKGKVEQKLRWYFKLYDVDGN GCIDRDELLTIIQAIRAINP
Mouse LKGKVEQKLRWYFKLYDVDGN GCIDRDELLTIIRAIRTINP
Bovine LKGKVEQKLRWYFKLYDVDGN GCIDRDELLTIIRAIRAINP
Chicken LKGKVDQKLRWYFKLYDVDGN GCIDRGELLNIIKAIRAINR
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.
Literature citations
A novel GCAP1(N104K) mutation in EF-hand 3 (EF3) linked to autosomal dominant cone dystrophy.
Jiang L.; Wheaton D.; Bereta G.; Zhang K.; Palczewski K.; Birch D.G.; Baehr W.;
Vision Res. 48:2425-2432(2008)
Cited for: VARIANT COD3 LYS-104; CHARACTERIZATION OF VARIANT COD3 LYS-104; FUNCTION;
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.