Variant position: 86 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 201 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 NKDGYIDFMEYVAALSLVLK GKVEQKLRWYFKLYDVDGNGC
Mouse NKDGYIDFMEYVAALSLVLK GKVEQKLRWYFKLYDVDGNGC
Bovine NKDGYIDFMEYVAALSLVLK GKVEQKLRWYFKLYDVDGNGC
Chicken NKDGYIDFMEYVAALSLVLK GKVDQKLRWYFKLYDVDGNGC
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
2 – 201 Guanylyl cyclase-activating protein 1
51 – 86 EF-hand 2
A G86R mutation in the calcium-sensor protein GCAP1 alters regulation of retinal guanylyl cyclase and causes dominant cone-rod degeneration.
Peshenko I.V.; Cideciyan A.V.; Sumaroka A.; Olshevskaya E.V.; Scholten A.; Abbas S.; Koch K.W.; Jacobson S.G.; Dizhoor A.M.;
J. Biol. Chem. 294:3476-3488(2019)
Cited for: VARIANT CORD14 ARG-86; CHARACTERIZATION OF VARIANT CORD14 ARG-86; FUNCTION;
Constitutive activation of guanylate cyclase by the G86R GCAP1 variant is due to 'locking' cation-pi interactions that impair the activator-to-inhibitor structural transition.
Abbas S.; Marino V.; Bielefeld L.; Koch K.W.; Dell'Orco D.;
Int. J. Mol. Sci. 21:0-0(2020)
Cited for: CHARACTERIZATION OF VARIANT CORD14 ARG-86;
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