UniProtKB/Swiss-Prot P29120: Variant p.Gln665Glu

Neuroendocrine convertase 1
Gene: PCSK1
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Variant information Variant position:

665 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B The variants are classified into three categories: LP/P, LB/B and US.

LP/P: likely pathogenic or pathogenic.
LB/B: likely benign or benign.
US: uncertain significance

Residue change:

From Glutamine (Q) to Glutamate (E) at position 665 (Q665E, p.Gln665Glu). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties:

Change from medium size and polar (Q) to medium size and acidic (E) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

2 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:

Lowest score: -4 (low probability of substitution).
Highest score: 11 (high probability of substitution).

More information can be found on the following page
Polymorphism:

Genetic variations in PCSK1 define the body mass index quantitative trait locus 12 (BMIQ12) [MIM:612362]. Variance in body mass index is a susceptibility factor for obesity. Additional information on the polymorphism described.
Other resources:

Links to websites of interest for the variant.

Variant rs6234 [ dbSNP | Ensembl ]

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                         SPSSSSVGGRRDELEEGAPSQAMLRLLQSAFSKNSPPKQSP

Mouse                         NSSSSNVEGRRDEQVQGTPSKAMLRLLQSAFSKNALSKQSP

Rat                           NSSSSSVEDRRDEQVQGAPSKAMLRLLQSAFSKNTPSKQSS

Bovine                        SPSGSGVGGRRDELAEGAPSEAMLRLLQSAFSKNSPSKQSP

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.