UniProtKB/SwissProt variant VAR

Variant information

Variant position:

104

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 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:

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; 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                         LKGKVEQKLRWYFKLYDVDGNGCIDRDELLTIIQAIRAINP

Mouse                         LKGKVEQKLRWYFKLYDVDGNGCIDRDELLTIIRAIRTINP

Bovine                        LKGKVEQKLRWYFKLYDVDGNGCIDRDELLTIIRAIRAINP

Chicken                       LKGKVDQKLRWYFKLYDVDGNGCIDRGELLNIIKAIRAINR

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	87 – 122	EF-hand 3
Binding site	100 – 100
Binding site	102 – 102
Binding site	104 – 104
Binding site	106 – 106
Binding site	111 – 111

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;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P43080: Variant p.Asn104Lys