Variant position: 99 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 ALSLVLKGKVEQKLRWYFKL YDVDGNGCIDRDELLTIIQAI
Mouse ALSLVLKGKVEQKLRWYFKL YDVDGNGCIDRDELLTIIRAI
Bovine ALSLVLKGKVEQKLRWYFKL YDVDGNGCIDRDELLTIIRAI
Chicken ALSLVLKGKVDQKLRWYFKL YDVDGNGCIDRGELLNIIKAI
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
87 – 122 EF-hand 3
A mutation in guanylate cyclase activator 1A (GUCA1A) in an autosomal dominant cone dystrophy pedigree mapping to a new locus on chromosome 6p21.1.
Payne A.M.; Downes S.M.; Bessant D.A.R.; Taylor R.; Holder G.E.; Warren M.J.; Bird A.C.; Bhattacharya S.S.;
Hum. Mol. Genet. 7:273-277(1998)
Cited for: VARIANT COD3 CYS-99;
Ca(2+)-binding proteins in the retina: from discovery to etiology of human disease.
Sokal I.; Li N.; Verlinde C.L.M.J.; Haeseleer F.; Baehr W.; Palczewski K.;
Biochim. Biophys. Acta 1498:233-251(2000)
Cited for: CHARACTERIZATION OF VARIANTS COD3 LEU-50 AND CYS-99;
Autosomal dominant cone and cone-rod dystrophy with mutations in the guanylate cyclase activator 1A gene-encoding guanylate cyclase activating protein-1.
Downes S.M.; Holder G.E.; Fitzke F.W.; Payne A.M.; Warren M.J.; Bhattacharya S.S.; Bird A.C.;
Arch. Ophthalmol. 119:96-105(2001)
Cited for: VARIANTS COD3 LEU-50 AND CYS-99;
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.