UniProtKB/Swiss-Prot P01130: Variant p.Pro699Leu

Low-density lipoprotein receptor
Gene: LDLR
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Variant information Variant position:

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

US 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 Proline (P) to Leucine (L) at position 699 (P699L, p.Pro699Leu). 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:

Similar physico-chemical property. Both residues are medium size and hydrophobic. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-3 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; uncertain significance. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs201573863 [ dbSNP | Ensembl ]

Sequence information Variant position:

699 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:

YLCLPAPQINPHSPKFTCAC P DGMLLARDMRSCLTEAEAAV 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                         YLCLPAPQINPHSPKFTCACPDGMLLARDMRSCLTEAEAAV

Mouse                         YLCLPAPQIGPHSPKFTCACPDGMLLAKDMRSCLTEVDTVL

Rat                           YMCLPAPQISAHSPKFTCACPDGMLLAKDMRSCLPEVDTVP

Bovine                        YLCLPAPQINPRSPKFTCACPDGMLLAKDMRSCLTESESAV

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	663 – 712	EGF-like 3
Disulfide bond	698 – 711
Alternative sequence	663 – 713	Missing. In isoform 2.

Literature citations
Predominance of a 6 bp deletion in exon 2 of the LDL receptor gene in Africans with familial hypercholesterolaemia.
Thiart R.; Scholtz C.L.; Vergotine J.; Hoogendijk C.F.; de Villiers J.N.P.; Nissen H.; Brusgaard K.; Gaffney D.; Hoffs M.S.; Vermaak W.J.H.; Kotze M.J.;
J. Med. Genet. 37:514-519(2000)
Cited for: VARIANTS FHCL1 47-ASP-GLY-48 DEL AND TRP-253; VARIANTS HIS-172; GLN-406; LYS-408; LEU-699 AND GLN-814; Presence and type of low density lipoprotein receptor (LDLR) mutation influences the lipid profile and response to lipid-lowering therapy in Brazilian patients with heterozygous familial hypercholesterolemia.
Santos P.C.; Morgan A.C.; Jannes C.E.; Turolla L.; Krieger J.E.; Santos R.D.; Pereira A.C.;
Atherosclerosis 233:206-210(2014)
Cited for: VARIANTS FHCL1 TYR-160; ALA-168; LEU-177; TYR-184; GLY-221; GLN-228; LYS-228; TRP-276; TYR-285; GLY-301; PHE-318; CYS-326; SER-343; TYR-368; ASP-373; TRP-406; MET-429; ASN-492; ASP-549; HIS-564; HIS-574; TRP-595; HIS-601; LEU-685; LEU-699; MET-797 AND GLN-814;

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.