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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P43080: Variant p.Tyr99Cys

Guanylyl cyclase-activating protein 1
Gene: GUCA1A
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Variant information Variant position: help 99 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Tyrosine (Y) to Cysteine (C) at position 99 (Y99C, p.Tyr99Cys). 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: help Change from large size and aromatic (Y) to medium size and polar (C) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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: help In COD3; results in impaired guanylate cyclase regulator activity; at high calcium ion concentrations the mutant protein stimulates GUCY2D activity while the wild-type inhibits it. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 99 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 201 The length of the canonical sequence.
Location on the sequence: help ALSLVLKGKVEQKLRWYFKL Y DVDGNGCIDRDELLTIIQAI 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         ALSLVLKGKVEQKLRWYFKLYDVDGNGCIDRDELLTIIQAI

Mouse                         ALSLVLKGKVEQKLRWYFKLYDVDGNGCIDRDELLTIIRAI

Bovine                        ALSLVLKGKVEQKLRWYFKLYDVDGNGCIDRDELLTIIRAI

Chicken                       ALSLVLKGKVDQKLRWYFKLYDVDGNGCIDRGELLNIIKAI
Sequence annotation in neighborhood: help 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.
TypePositionsDescription
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 mutation in guanylate cyclase activator 1A (GUCA1A) in an autosomal dominant cone dystrophy pedigree mapping to a new locus on chromosome 6p21.1.
Payne A.M.; Downes S.M.; Bessant D.A.R.; Taylor R.; Holder G.E.; Warren M.J.; Bird A.C.; Bhattacharya S.S.;
Hum. Mol. Genet. 7:273-277(1998)
Cited for: VARIANT COD3 CYS-99; Ca(2+)-binding proteins in the retina: from discovery to etiology of human disease.
Sokal I.; Li N.; Verlinde C.L.M.J.; Haeseleer F.; Baehr W.; Palczewski K.;
Biochim. Biophys. Acta 1498:233-251(2000)
Cited for: CHARACTERIZATION OF VARIANTS COD3 LEU-50 AND CYS-99; Autosomal dominant cone and cone-rod dystrophy with mutations in the guanylate cyclase activator 1A gene-encoding guanylate cyclase activating protein-1.
Downes S.M.; Holder G.E.; Fitzke F.W.; Payne A.M.; Warren M.J.; Bhattacharya S.S.; Bird A.C.;
Arch. Ophthalmol. 119:96-105(2001)
Cited for: VARIANTS COD3 LEU-50 AND CYS-99;
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.