Variant position: 84 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 DFNKDGYIDFMEYVAALSLV LKGKVEQKLRWYFKLYDVDGN
Mouse DFNKDGYIDFMEYVAALSLV LKGKVEQKLRWYFKLYDVDGN
Bovine DFNKDGYIDFMEYVAALSLV LKGKVEQKLRWYFKLYDVDGN
Chicken DFNKDGYIDFMEYVAALSLV LKGKVDQKLRWYFKLYDVDGN
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
Novel GUCA1A mutations suggesting possible mechanisms of pathogenesis in cone, cone-rod, and macular dystrophy patients.
Kamenarova K.; Corton M.; Garcia-Sandoval B.; Fernandez-San Jose P.; Panchev V.; Avila-Fernandez A.; Lopez-Molina M.I.; Chakarova C.; Ayuso C.; Bhattacharya S.S.;
Biomed. Res. Int. 2013:517570-517570(2013)
Cited for: VARIANTS CORD14 PHE-84 AND THR-107;
Two retinal dystrophy-associated missense mutations in GUCA1A with distinct molecular properties result in a similar aberrant regulation of the retinal guanylate cyclase.
Marino V.; Scholten A.; Koch K.W.; Dell'Orco D.;
Hum. Mol. Genet. 24:6653-6666(2015)
Cited for: CHARACTERIZATION OF VARIANTS CORD14 PHE-84 AND THR-107;
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