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UniProtKB/Swiss-Prot P01130: Variant p.Glu140Lys

Low-density lipoprotein receptor
Gene: LDLR
Variant information

Variant position:  140
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 Glutamate (E) to Lysine (K) at position 140 (E140K, p.Glu140Lys).
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 large size and basic (K)
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; Philippines/Durban-2/Japan.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  140
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:   KCISRQFVCDSDRDCLDGSD  E ASCPVLTCGPASFQCNSSTC
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                         KCISRQFVCDSDRDCLDGSDEASCPVLTCGPASFQCNSSTC

Mouse                         KCISPQFVCDGDRDCLDGSDEAHCQATTCGPAHFRCNSSIC

Rat                           KCISRQFVCDQDWDCLDGSDEAHCAATTCGPAHFRCNSSSC

Bovine                        KCIAPKFVCDLDLDCLDGSDEASCPMPTCGPANFQCNSSMC

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.

TypePositionsDescription
Chain 22 – 860 Low-density lipoprotein receptor
Topological domain 22 – 788 Extracellular
Domain 107 – 145 LDL-receptor class A 3
Glycosylation 156 – 156 N-linked (GlcNAc...) asparagine
Disulfide bond 128 – 143
Alternative sequence 35 – 155 Missing. In isoform 6.
Alternative sequence 105 – 272 Missing. In isoform 3.
Alternative sequence 106 – 232 Missing. In isoform 2.
Turn 138 – 142


Literature citations

Identification of two new LDL-receptor mutations causing homozygous familial hypercholesterolemia in a South African of Indian origin.
Rubinsztein D.C.; Jialal I.; Leitersdorf E.; Coetzee G.A.; van der Westhuyzen D.R.;
Biochim. Biophys. Acta 1182:75-82(1993)
Cited for: VARIANTS FHCL1 TYR-90 AND LYS-140;

Common mutations in the low-density-lipoprotein-receptor gene causing familial hypercholesterolemia in the Japanese population.
Maruyama T.; Miyake Y.; Tajima S.; Harada-Shiba M.; Yamamura T.; Tsushima M.; Kishino B.; Horiguchi Y.; Funahashi T.; Matsuzawa Y.; Yamamoto A.;
Arterioscler. Thromb. Vasc. Biol. 15:1713-1718(1995)
Cited for: VARIANTS FHCL1 LYS-140; SER-338 AND LEU-685;

Spectrum of LDL receptor gene mutations in Denmark: implications for molecular diagnostic strategy in heterozygous familial hypercholesterolemia.
Jensen H.K.; Jensen L.G.; Meinertz H.; Hansen P.S.; Gregersen N.; Faergeman O.;
Atherosclerosis 146:337-344(1999)
Cited for: VARIANTS FHCL1 GLY-87; LYS-140; ASN-172; ARG-243; LEU-306; PRO-404; HIS-564; SER-577; ASN-579; ILE-726 AND LYS-825;

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.