UniProtKB/SwissProt variant VAR

Variant information

Variant position:

212

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 Tryptophan (W) to Arginine (R) at position 212 (W212R, p.Trp212Arg).

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 large size and aromatic (W) to large size and basic (R)

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 HLD1.

Any additional useful information about the variant.

Sequence information

Variant position:

212

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

Protein sequence length:

277

The length of the canonical sequence.

Location on the sequence:

KTSASIGSLCADARMYGVLP W NAFPGKVCGSNLLSICKTAE

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.

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	2 – 277	Myelin proteolipid protein
Topological domain	178 – 233	Extracellular
Lipidation	199 – 199	O-palmitoyl serine
Disulfide bond	184 – 228
Disulfide bond	201 – 220

Literature citations

Proteolipoprotein gene analysis in 82 patients with sporadic Pelizaeus-Merzbacher Disease: duplications, the major cause of the disease, originate more frequently in male germ cells, but point mutations do not.
Mimault C.; Giraud G.; Courtois V.; Cailloux F.; Boire J.Y.; Dastugue B.; Boespflug-Tanguy O.; Baethmann M.; Bertini E.; Cuisset J.M.; Gaertner J.; Hanefeld F.; Kohlschutter A.; Landrieu P.; Mayer M.; Peudenier S.; Rodriguez D.; Rating D.; Surtees R.; Uziel G.; Vallee L.; Voit T.;
Am. J. Hum. Genet. 65:360-369(1999)
Cited for: VARIANTS HLD1 TYR-35; THR-39; CYS-60; ARG-74; ARG-169; CYS-175; CYS-181; ASN-183; ASN-203; GLU-203; GLY-203; HIS-210; ARG-212; SER-216; TYR-228; PRO-234; GLU-246 AND GLU-248;

Genotype-phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutations.
Cailloux F.; Gauthier-Barichard F.; Mimault C.; Isabelle V.; Courtois V.; Giraud G.; Dastugue B.; Boespflug-Tanguy O.; Baethmann M.; Bertini E.; Cuisset J.M.; Gaertner J.; Hanefeld F.; Kohlschutter A.; Landrieu P.; Mayer M.; Peudenier S.; Rodriguez D.; Rating D.; Surtees R.; Uziel G.; Vallee L.; Voit T.;
Eur. J. Hum. Genet. 8:837-845(2000)
Cited for: VARIANTS HLD1 PRO-31; LEU-32; SER-51; ARG-74; CYS-181; GLU-203; ARG-212 AND ALA-216; VARIANT SPG2 TYR-130;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P60201: Variant p.Trp212Arg