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UniProtKB/Swiss-Prot Q9UMX6: Variant p.Gly157Arg

Guanylyl cyclase-activating protein 2
Gene: GUCA1B
Variant information

Variant position:  157
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 Glycine (G) to Arginine (R) at position 157 (G157R, p.Gly157Arg).
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 glycine (G) to large size and basic (R)
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 RP48.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  157
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  200
The length of the canonical sequence.

Location on the sequence:   GQLLTPEEVVDRIFLLVDEN  G DGQLSLNEFVEGARRDKWVM
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                         GQLLTPEEVVDRIFLLVDENGDGQLSLNEFVEGARRDKWVM

Mouse                         GQLLTPEEVVDRIFLLVDENGDGQLSLTEFIEGARRDKWVM

Bovine                        GKLLTPEEVVDRIFLLVDENGDGQLSLNEFVEGARRDKWVM

Chicken                       TPLLTPEEVVDRIFQLVDENGDGQLSLDEFIDGARKDKWVM

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.

TypePositionsDescription
Chain 2 – 200 Guanylyl cyclase-activating protein 2
Domain 141 – 176 EF-hand 4
Metal binding 154 – 154 Calcium 3
Metal binding 156 – 156 Calcium 3
Metal binding 158 – 158 Calcium 3
Metal binding 160 – 160 Calcium 3
Metal binding 165 – 165 Calcium 3


Literature citations

Mutations in the gene coding for guanylate cyclase-activating protein 2 (GUCA1B gene) in patients with autosomal dominant retinal dystrophies.
Sato M.; Nakazawa M.; Usui T.; Tanimoto N.; Abe H.; Ohguro H.;
Graefes Arch. Clin. Exp. Ophthalmol. 243:235-242(2005)
Cited for: VARIANT RP48 ARG-157;

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.