UniProtKB/SwissProt variant VAR

Variant information

Variant position:

46

The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:

LP/P [Disclaimer]

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 Cysteine (C) to Serine (S) at position 46 (C46S, p.Cys46Ser).

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 (C) to small size and polar (S)

The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:

-1

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

Variant description:

In FHCL1; Japanese patient.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs121908041 [ dbSNP | Ensembl ]

Sequence information

Variant position:

46

The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:

860

The length of the canonical sequence.

Location on the sequence:

RCERNEFQCQDGKCISYKWV C DGSAECQDGSDESQETCLSV

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                         RCERNEFQCQDGKCISYKWVCDGSAECQDGSDESQETCLSV

Mouse                         SCSRNEFQCRDGKCIASKWVCDGSPECPDGSDESPETCMSV

Rat                           SCGKNEFQCRDGKCIVSKWVCDGSRECPDGSDESPETCMSV

Bovine                        NCGRNEFQCQDGKCISYKWVCDGTAECQDGSDESQETCKSV

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	22 – 860	Low-density lipoprotein receptor
Topological domain	22 – 788	Extracellular
Domain	25 – 65	LDL-receptor class A 1
Disulfide bond	34 – 52
Disulfide bond	46 – 63
Alternative sequence	35 – 155	Missing. In isoform 6.
Turn	42 – 46

Literature citations

A novel mutation in exon 2 of the low-density lipoprotein-receptor gene in a patient with homozygous familial hypercholesterolemia.
Takahashi M.; Ikeda U.; Takahashi S.; Hattori H.; Iwasaki T.; Ishihara M.; Egashira T.; Honma S.; Asano Y.; Shimada K.A.;
Clin. Genet. 59:290-292(2001)
Cited for: VARIANT FHCL1 SER-46;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P01130: Variant p.Cys46Ser