UniProtKB/Swiss-Prot P01130: Variant p.Gly2Arg

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

2 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 Glycine (G) to Arginine (R) at position 2 (G2R, p.Gly2Arg). 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 glycine (G) to large size and basic (R) 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
Other resources:

Links to websites of interest for the variant.

Variant rs5931 [ dbSNP | Ensembl ]

Sequence information Variant position:

2 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:

M G PWGWKLRWTVALLLAAAGTA 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                         MGPWGWKLRWTVALLLAAAGTA

Mouse                         MSTADLMRRWVIALLLAAAGVA

Rat                           MSTADLMLRWAIALLLAAAGVA

Bovine                        MRLAGWGLRWAIALLIAVGEAA

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
Signal peptide	1 – 21

Literature citations
Molecular genetics of the LDL receptor gene in familial hypercholesterolemia.
Hobbs H.H.; Brown M.S.; Goldstein J.L.;
Hum. Mutat. 1:445-466(1992)
Cited for: VARIANTS FHCL1 TYR-52; ARG-109; GLY-155; ARG-173; PHE-197; TYR-197; ASN-224; GLY-224; PRO-226; LYS-240; PHE-248; GLY-256; GLU-266; TYR-270; ARG-286; ASN-304; GLU-304; TYR-318; SER-335; GLU-342; SER-343; TYR-352; VAL-354; GLY-354; LYS-357; ARG-364; ARG-379; ASN-441; MET-441; CYS-443; ARG-478; ARG-485; VAL-565; SER-599; PRO-682; PHE-792 AND ILE-827; Spectrum of LDL receptor gene mutations in heterozygous familial hypercholesterolemia.
Day I.N.M.; Whittall R.A.; O'Dell S.D.; Haddad L.; Bolla M.K.; Gudnason V.; Humphries S.E.;
Hum. Mutat. 10:116-127(1997)
Cited for: VARIANTS FHCL1 TRP-27; CYS-78; GLY-87; TYR-89; ASN-90; GLY-90; LYS-101; TYR-160; ASN-168; LEU-177; GLY-221; GLU-227; ARG-286; TYR-313; TYR-327; ASN-342; PRO-350; ASP-399; TRP-416; HIS-482; ARG-483; SER-526; ASP-549; CYS-633; LEU-649 AND ILE-726; 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; Characterization of single-nucleotide polymorphisms in coding regions of human genes.
Cargill M.; Altshuler D.; Ireland J.; Sklar P.; Ardlie K.; Patil N.; Shaw N.; Lane C.R.; Lim E.P.; Kalyanaraman N.; Nemesh J.; Ziaugra L.; Friedland L.; Rolfe A.; Warrington J.; Lipshutz R.; Daley G.Q.; Lander E.S.;
Nat. Genet. 22:231-238(1999)
Cited for: VARIANTS ARG-2; ILE-468 AND GLN-814; Clinical expression of familial hypercholesterolemia in clusters of mutations of the LDL receptor gene that cause a receptor-defective or receptor-negative phenotype.
Bertolini S.; Cantafora A.; Averna M.; Cortese C.; Motti C.; Martini S.; Pes G.; Postiglione A.; Stefanutti C.; Blotta I.; Pisciotta L.; Rolleri M.; Langheim S.; Ghisellini M.; Rabbone I.; Calandra S.;
Arterioscler. Thromb. Vasc. Biol. 20:E41-E52(2000)
Cited for: VARIANTS FHCL1 PHE-134; TRP-134; TYR-222; PRO-254; ARG-276; ARG-318; THR-370; GLY-415 AND TYR-579; Diagnosis of families with familial hypercholesterolaemia and/or Apo B-100 defect by means of DNA analysis of LDL-receptor gene mutations.
Widhalm K.; Dirisamer A.; Lindemayr A.; Kostner G.;
J. Inherit. Metab. Dis. 30:239-247(2007)
Cited for: VARIANTS FHCL1 THR-50; LEU-211; GLY-221; GLU-266; LYS-277; ARG-286; ARG-314; ARG-352; LYS-408; THR-431; HIS-442; MET-523; GLY-577; THR-585 AND LEU-685;

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.