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UniProtKB/Swiss-Prot P43080: Variant p.Leu84Phe

Guanylyl cyclase-activating protein 1
Gene: GUCA1A
Variant information

Variant position:  84
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 84 (L84F, p.Leu84Phe).
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 CORD14; affects guanylate cyclase regulator activity resulting in constitutive activation of GUCY2D at physiologic calcium concentrations; altered tertiary structure; no change of affinity for calcium ions; increased affinity for magnesium ions.
Any additional useful information about the variant.

Sequence information

Variant position:  84
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  201
The length of the canonical sequence.

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.





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.

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
Binding site 102 – 102
Binding site 104 – 104

Literature citations

Novel GUCA1A mutations suggesting possible mechanisms of pathogenesis in cone, cone-rod, and macular dystrophy patients.
Kamenarova K.; Corton M.; Garcia-Sandoval B.; Fernandez-San Jose P.; Panchev V.; Avila-Fernandez A.; Lopez-Molina M.I.; Chakarova C.; Ayuso C.; Bhattacharya S.S.;
Biomed. Res. Int. 2013:517570-517570(2013)
Cited for: VARIANTS CORD14 PHE-84 AND THR-107;

Two retinal dystrophy-associated missense mutations in GUCA1A with distinct molecular properties result in a similar aberrant regulation of the retinal guanylate cyclase.
Marino V.; Scholten A.; Koch K.W.; Dell'Orco D.;
Hum. Mol. Genet. 24:6653-6666(2015)

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.