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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q02846: Variant p.Ala52Ser

Retinal guanylyl cyclase 1
Gene: GUCY2D
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Variant information Variant position: help 52 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Alanine (A) to Serine (S) at position 52 (A52S, p.Ala52Ser). 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 small size and hydrophobic (A) to small size and polar (S) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 1 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 LCA1; uncertain significance. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 52 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1103 The length of the canonical sequence.
Location on the sequence: help ALPRLPLLLLLLLLQPPALS A VFTVGVLGPWACDPIFSRAR 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                         ALPRL-PLLLLLLLLQPPALSA----VFTVGVLGPWACDPIFSRAR

                              PQPRL-RLLLLLLLLPPSALSA----VFTVGVLGPWACDPI

Mouse                         SVLSV-VFWSVLLWADSLSLLAWARETFTLGVLGPWDCDPI

Rat                           SVFSV-VFWGVLLWADSLSLPAWARETFTLGVLGPWDCDPI

Bovine                        PRLRLRPPLLLLLLLPRSVLSA----VFTVGVLGPWACDPI

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 52 – 1103 Retinal guanylyl cyclase 1
Topological domain 52 – 462 Extracellular



Literature citations
Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis.
Perrault I.; Rozet J.-M.; Calvas P.; Gerber S.; Camuzat A.; Dollfus H.; Chatelin S.; Souied E.; Ghazi I.; Leowski C.; Bonnemaison M.; le Paslier D.; Frezal J.; Dufier J.-L.; Pittler S.; Munnich A.; Kaplan J.;
Nat. Genet. 14:461-464(1996)
Cited for: VARIANT LCA1 SER-52; Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis.
Li L.; Xiao X.; Li S.; Jia X.; Wang P.; Guo X.; Jiao X.; Zhang Q.; Hejtmancik J.F.;
PLoS ONE 6:E19458-E19458(2011)
Cited for: VARIANTS LCA1 MET-55; VAL-103; MET-312; 405-LEU-ASP-406 DELINS PRO-ASN; CYS-438; LEU-640; GLN-660; HIS-728; ALA-734; TRP-768; ARG-784; LEU-1007 AND GLY-ILE-1027 INS; VARIANTS ARG-21; SER-52 AND SER-701;
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.