Sequence information
Variant position: 665 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:
SPSSSSVGGRRDELEEGAPS
Q AMLRLLQSAFSKNSPPKQSP
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 SPSSSSVGGRRDELEEGAPSQ AMLRLLQSAFSKNSPPKQSP
Mouse NSSSSNVEGRRDEQVQGTPSK AMLRLLQSAFSKNALSKQSP
Rat NSSSSSVEDRRDEQVQGAPSK AMLRLLQSAFSKNTPSKQSS
Bovine SPSGSGVGGRRDELAEGAPSE AMLRLLQSAFSKNSPSKQSP
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
Chain
111 – 753
Neuroendocrine convertase 1
Literature citations
Human prohormone convertase 3 gene: exon-intron organization and molecular scanning for mutations in Japanese subjects with NIDDM.
Ohagi S.; Sakaguchi H.; Sanke T.; Tatsuta H.; Hanabusa T.; Nanjo K.;
Diabetes 45:897-901(1996)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS GLN-80 AND GLU-665;
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;
Hyperphagia and early-onset obesity due to a novel homozygous missense mutation in prohormone convertase 1/3.
Farooqi I.S.; Volders K.; Stanhope R.; Heuschkel R.; White A.; Lank E.; Keogh J.; O'Rahilly S.; Creemers J.W.M.;
J. Clin. Endocrinol. Metab. 92:3369-3373(2007)
Cited for: VARIANT PC1 DEFICIENCY LEU-307; CHARACTERIZATION OF VARIANT PC1 DEFICIENCY LEU-307; VARIANTS GLU-665 AND THR-690;
Disclaimer:
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.