Variant position: 954 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 ASGLPQRNGQRHAAEIANMS LDILSAVGTFRMRHMPEVPVR
Rat ASGLPRRNGNRHAAEIANMA LEILSYAGNFRMRHAPDVPIR
Bovine ASGLPQRNGHRHAAEIANMA LDILSAVGTFRMRHMPEVPVR
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
880 – 1010 Guanylate cyclase
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;
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.