UniProtKB/Swiss-Prot Q8NBP7: Variant p.Glu482Gly

Proprotein convertase subtilisin/kexin type 9
Gene: PCSK9
Feedback?

Variant information Variant position:

482 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 Glutamate (E) to Glycine (G) at position 482 (E482G, p.Glu482Gly). 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 acidic (E) to glycine (G) 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:

Variant Leu-23 ins polymorphism in PCSK9 might have a modifier effect on LDLR mutation and familial hypercholesterolemia.Genetic variations in PCSK9 define the low density lipoprotein cholesterol level quantitative trait locus 1 (LDLCQ1) [MIM:603776]. - Additional information on the polymorphism described.
Other resources:

Links to websites of interest for the variant.

Variant rs141995194 [ dbSNP | Ensembl ]

Sequence information Variant position:

482 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

692 The length of the canonical sequence.
Location on the sequence:

SAHSGPTRMATAVARCAPDE E LLSCSSFSRSGKRRGERMEA 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                         SAHSGPTRMATAVARCAPDEELLSCSSFSRSGKRRGERMEA

Gorilla                       SAHSGPTRMATAVARCAPDEELLSCSSFSRSGKRRGEHMEA

Rhesus macaque                SAHSGPTRMATAVARCAQDEELLSCSSFSRSGKRRGERIEA

Chimpanzee                    SAHSGPTRMATAVARCAPDEELLSCSSFSRSGKRRGERMEA

Mouse                         SAHSGPTRTATATARCAPEEELLSCSSFSRSGRRRGDWIEA

Rat                           SAHSGPTRTATATARCAPEEELLSCSSFSRSGRRRGDRIEA

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	153 – 692	Proprotein convertase subtilisin/kexin type 9
Region	450 – 692	C-terminal domain
Disulfide bond	457 – 527
Disulfide bond	477 – 526
Alternative sequence	366 – 692	Missing. In isoform 2.
Beta strand	482 – 489

Literature citations
A spectrum of PCSK9 alleles contributes to plasma levels of low-density lipoprotein cholesterol.
Kotowski I.K.; Pertsemlidis A.; Luke A.; Cooper R.S.; Vega G.L.; Cohen J.C.; Hobbs H.H.;
Am. J. Hum. Genet. 78:410-422(2006)
Cited for: VARIANTS LEU-46; VAL-53; LYS-57; TRP-237; PHE-253; ASN-391; GLN-417; SER-425; THR-443; TRP-469; ILE-474; GLY-482; LEU-515; ARG-553; GLU-554; PRO-619 AND GLU-670;

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.