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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q02846: Variant p.Lys846Asn

Retinal guanylyl cyclase 1
Gene: GUCY2D
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Variant information Variant position: help 846 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 Lysine (K) to Asparagine (N) at position 846 (K846N, p.Lys846Asn). 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 basic (K) to medium size and polar (N) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 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: help In CORD6; decreases basal and GUCA1A-induced guanylate cyclase activity; inhibition by RD3 is less effective; does not affect endoplasmic reticulum membrane localization. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 846 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 QYSSNLEDLIRERTEELELE K QKTDRLLTQMLPPSVAEALK 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                         QYSSNLEDLIRERTEELELEKQKTDRLLTQMLPPSVAEALK

                              QYSSNLEDLIRERTEELELEKQKTDRLLTQMLPPSVAEALK

Mouse                         KYSESLEDLVQERTEELELERRKTERLLSQMLPPSVAHALK

Rat                           KYSQSLEGLVQERTEELELERRKTERLLSQMLPPSVAHALK

Bovine                        QYSSNLEDLIRERTEELELEKQKTDRLLTQMLPPSVAEALK
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



Literature citations
Photoreceptor Guanylate Cyclase (GUCY2D) Mutations Cause Retinal Dystrophies by Severe Malfunction of Ca2+-Dependent Cyclic GMP Synthesis.
Wimberg H.; Lev D.; Yosovich K.; Namburi P.; Banin E.; Sharon D.; Koch K.W.;
Front. Mol. Neurosci. 11:348-348(2018)
Cited for: CATALYTIC ACTIVITY; FUNCTION; SUBCELLULAR LOCATION; VARIANT LCA1 LEU-902; CHARACTERIZATION OF VARIANT LCA1 VAL-710 AND LEU-902; VARIANT CORD6 ARG-873; CHARACTERIZATION OF VARIANTS CORD6 LYS-841; ASN-846 AND ARG-873; Whole exome sequencing reveals GUCY2D as a major gene associated with cone and cone-rod dystrophy in Israel.
Lazar C.H.; Mutsuddi M.; Kimchi A.; Zelinger L.; Mizrahi-Meissonnier L.; Marks-Ohana D.; Boleda A.; Ratnapriya R.; Sharon D.; Swaroop A.; Banin E.;
Invest. Ophthalmol. Vis. Sci. 56:420-430(2014)
Cited for: VARIANTS CORD6 CYS-838; LYS-841 AND ASN-846;
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.