UniProtKB/Swiss-Prot P43080: Variant p.Leu80Ile

Guanylyl cyclase-activating protein 1
Gene: GUCA1A
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Variant information Variant position:

80 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 Leucine (L) to Isoleucine (I) at position 80 (L80I, p.Leu80Ile). 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:

Similar physico-chemical property. Both residues are medium size and hydrophobic. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

2 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; uncertain significance. Any additional useful information about the variant.

Sequence information Variant position:

80 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:

FETFDFNKDGYIDFMEYVAA L SLVLKGKVEQKLRWYFKLYD 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                         FETFDFNKDGYIDFMEYVAALSLVLKGKVEQKLRWYFKLYD

Mouse                         FETFDFNKDGYIDFMEYVAALSLVLKGKVEQKLRWYFKLYD

Bovine                        FETFDFNKDGYIDFMEYVAALSLVLKGKVEQKLRWYFKLYD

Chicken                       FETFDFNKDGYIDFMEYVAALSLVLKGKVDQKLRWYFKLYD

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	51 – 86	EF-hand 2
Binding site	64 – 64
Binding site	66 – 66
Binding site	68 – 68
Binding site	70 – 70
Binding site	75 – 75
Binding site	100 – 100

Literature citations
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;

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.