Variant position: 151 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 TAEEFTDTVFSKIDVNGDGE LSLEEFIEGVQKDQMLLDTLT
Mouse SAEEFTDTVFAKIDINGDGE LSLEEFMEGVQKDQMLLDTLT
Bovine TAEEFTDTVFSKIDVNGDGE LSLEEFMEGVQKDQMLLDTLT
Chicken TAEEFTNMVFDKIDINGDGE LSLEEFMEGVQKDEVLLDILT
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.
A novel GCAP1 missense mutation (L151F) in a large family with autosomal dominant cone-rod dystrophy (adCORD).
Sokal I.; Dupps W.J.; Grassi M.A.; Brown J. Jr.; Affatigato L.M.; Roychowdhury N.; Yang L.; Filipek S.; Palczewski K.; Stone E.M.; Baehr W.;
Invest. Ophthalmol. Vis. Sci. 46:1124-1132(2005)
Cited for: VARIANT CORD14 PHE-151;
Autosomal dominant cone dystrophy caused by a novel mutation in the GCAP1 gene (GUCA1A).
Jiang L.; Katz B.J.; Yang Z.; Zhao Y.; Faulkner N.; Hu J.; Baird J.; Baehr W.; Creel D.J.; Zhang K.;
Mol. Vis. 11:143-151(2005)
Cited for: VARIANT COD3 PHE-151;
Mutations in the GUCA1A gene involved in hereditary cone dystrophies impair calcium-mediated regulation of guanylate cyclase.
Kitiratschky V.B.D.; Behnen P.; Kellner U.; Heckenlively J.R.; Zrenner E.; Jaegle H.; Kohl S.; Wissinger B.; Koch K.-W.;
Hum. Mutat. 30:E782-E796(2009)
Cited for: VARIANTS COD3 LYS-89; GLU-100; PHE-151 AND VAL-159; CHARACTERIZATION OF VARIANTS COD3 LYS-89; GLU-100 AND VAL-159; FUNCTION;
Characterization of GUCA1A-associated dominant cone/cone-rod dystrophy: low prevalence among Japanese patients with inherited retinal dystrophies.
Mizobuchi K.; Hayashi T.; Katagiri S.; Yoshitake K.; Fujinami K.; Yang L.; Kuniyoshi K.; Shinoda K.; Machida S.; Kondo M.; Ueno S.; Terasaki H.; Matsuura T.; Tsunoda K.; Iwata T.; Nakano T.;
Sci. Rep. 9:16851-16851(2019)
Cited for: VARIANTS COD3 ILE-42; GLU-68; ILE-80; ASN-99; SER-99; PHE-151 AND ARG-184;
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.