Variant position: 221 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 753 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 DPTNENKHGTRCAGEIAMQA NNHKCGVGVAYNSKVGGIRML
Mouse DLTNENKHGTRCAGEIAMQA NNHKCGVGVAYNSKVGGIRML
Rat DPTNENKHGTRCAGEIAMQA NNHKCGVGVAYNSKVGGIRML
Bovine DLINENKHGTRCAGEIAMQA NNHKCGVGVAYNSKVGGIRML
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
111 – 753 Neuroendocrine convertase 1
129 – 450 Peptidase S8
208 – 208 Charge relay system
Characterization of single-nucleotide polymorphisms in coding regions of human genes.
Cargill M.; Altshuler D.; Ireland J.; Sklar P.; Ardlie K.; Patil N.; Shaw N.; Lane C.R.; Lim E.P.; Kalyanaraman N.; Nemesh J.; Ziaugra L.; Friedland L.; Rolfe A.; Warrington J.; Lipshutz R.; Daley G.Q.; Lander E.S.;
Nat. Genet. 22:231-238(1999)
Cited for: VARIANTS ASP-221; GLU-665 AND THR-690;
Common nonsynonymous variants in PCSK1 confer risk of obesity.
Benzinou M.; Creemers J.W.M.; Choquet H.; Lobbens S.; Dina C.; Durand E.; Guerardel A.; Boutin P.; Jouret B.; Heude B.; Balkau B.; Tichet J.; Marre M.; Potoczna N.; Horber F.; Le Stunff C.; Czernichow S.; Sandbaek A.; Lauritzen T.; Borch-Johnsen K.; Andersen G.; Kiess W.; Koerner A.; Kovacs P.; Jacobson P.; Carlsson L.M.S.; Walley A.J.; Joergensen T.; Hansen T.; Pedersen O.; Meyre D.; Froguel P.;
Nat. Genet. 40:943-945(2008)
Cited for: VARIANT ASP-221; CHARACTERIZATION OF VARIANT ASP-221; POLYMORPHISM;
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.