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UniProtKB/Swiss-Prot P01130: Variant p.Cys338Ser

Low-density lipoprotein receptor
Gene: LDLR
Variant information

Variant position:  338
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 338 (C338S, p.Cys338Ser).
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 patients.
Any additional useful information about the variant.

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

Sequence information

Variant position:  338
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  860
The length of the canonical sequence.

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.





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.

Chain 22 – 860 Low-density lipoprotein receptor
Topological domain 22 – 788 Extracellular
Domain 314 – 353 EGF-like 1
Disulfide bond 325 – 338
Beta strand 337 – 339

Literature citations

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;

Identification of recurrent and novel mutations in the LDL receptor gene in Japanese familial hypercholesterolemia.
Hattori H.; Nagano M.; Iwata F.; Homma Y.; Egashira T.; Okada T.;
Hum. Mutat. 14:87-87(1999)
Cited for: VARIANTS FHCL1 SER-338; LEU-403; THR-431; VAL-568 AND LYS-714;

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.