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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q02846: Variant p.Leu954Pro

Retinal guanylyl cyclase 1
Gene: GUCY2D
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Variant information Variant position: help 954 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 Leucine (L) to Proline (P) at position 954 (L954P, p.Leu954Pro). 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 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: help -3 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; severely impairs basal and GUCA1A induced guanylate cyclase. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 954 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 ASGLPQRNGQRHAAEIANMS L DILSAVGTFRMRHMPEVPVR 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                         ASGLPQRNGQRHAAEIANMSLDILSAVGTFRMRHMPEVPVR

                              ASGLPQRNGQRHAAEIANMALDILSAVGSFRMRHMPEVPVR

Mouse                         ASGLPRRNGNRHAAEIANLALDILSYAGNFRMRHAPDVPIR

Rat                           ASGLPRRNGNRHAAEIANMALEILSYAGNFRMRHAPDVPIR

Bovine                        ASGLPQRNGHRHAAEIANMALDILSAVGTFRMRHMPEVPVR

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 488 – 1103 Cytoplasmic
Domain 880 – 1010 Guanylate cyclase



Literature citations
Electroretinographic abnormalities in parents of patients with Leber congenital amaurosis who have heterozygous GUCY2D mutations.
Koenekoop R.K.; Fishman G.A.; Iannaccone A.; Ezzeldin H.; Ciccarelli M.L.; Baldi A.; Sunness J.S.; Lotery A.J.; Jablonski M.M.; Pittler S.J.; Maumenee I.;
Arch. Ophthalmol. 120:1325-1330(2002)
Cited for: VARIANT LCA1 PRO-954; Functional analyses of mutant recessive GUCY2D alleles identified in Leber congenital amaurosis patients: protein domain comparisons and dominant negative effects.
Tucker C.L.; Ramamurthy V.; Pina A.-L.; Loyer M.; Dharmaraj S.; Li Y.; Maumenee I.H.; Hurley J.B.; Koenekoop R.K.;
Mol. Vis. 10:297-303(2004)
Cited for: CHARACTERIZATION OF VARIANTS LCA1 TYR-105; PRO-325; SER-858 AND PRO-954; CATALYTIC ACTIVITY; FUNCTION;
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.