Variant position: 846 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1103 The length of the canonical sequence.
Location on the 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.
Human QYSSNLEDLIRERTEELELE KQKTDRLLTQMLPPSVAEALK
Mouse KYSESLEDLVQERTEELELE RRKTERLLSQMLPPSVAHALK
Rat KYSQSLEGLVQERTEELELE RRKTERLLSQMLPPSVAHALK
Bovine QYSSNLEDLIRERTEELELE KQKTDRLLTQMLPPSVAEALK
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.
Type Positions Description
52 – 1103 Retinal guanylyl cyclase 1
488 – 1103 Cytoplasmic
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;
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.