UniProtKB/SwissProt variant VAR

Variant information

Variant position:

418

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

Type of variant:

Disease [Disclaimer]

The variants are classified into three categories: Disease, Polymorphism and Unclassified.

Disease: Variants implicated in disease according to literature reports.
Polymorphism: Variants not reported to be implicated in disease.
Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:

From Arginine (R) to Tryptophan (W) at position 418 (R418W, p.Arg418Trp).

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

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 ALD; AMN-type.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs128624220 [ dbSNP | Ensembl ]

Sequence information

Variant position:

418

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

Protein sequence length:

745

The length of the canonical sequence.

Location on the sequence:

AIERIMSSYKEVTELAGYTA R VHEMFQVFEDVQRCHFKRPR

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                         AIERIMSSYKEVTELAGYTARVHEMFQVFEDVQRCHFKRPR-

Mouse                         ATERIMSSYKEVTELAGYTARVYEMFQVFEDVKHCRFKRTG

Rat                           ATERIMSSYKEVTELAGYTARVYEMFQVFEDVQHCRFKRTG

Zebrafish                     AVERIMVSYKEVTELAGYTARVYEMFEVFEDVRDGVYRRSA

Slime mold                    GFSQYINVSQSISDLSGYISRISSMIEVCKKIMEDVSLDAD

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	1 – 745	ATP-binding cassette sub-family D member 1

Literature citations

Missense mutations are frequent in the gene for X-chromosomal adrenoleukodystrophy (ALD).
Fuchs S.; Sarde C.-O.; Wedemann H.; Schwinger E.; Mandel J.-L.; Gal A.;
Hum. Mol. Genet. 3:1903-1905(1994)
Cited for: VARIANTS ALD SER-148; ASP-174; ARG-266; GLN-401; TRP-418 AND PHE-515;

Identification of mutations in the ALD-gene of 20 families with adrenoleukodystrophy/adrenomyeloneuropathy.
Krasemann E.W.; Meier V.; Korenke G.C.; Hunneman D.H.; Hanefeld F.;
Hum. Genet. 97:194-197(1996)
Cited for: VARIANTS ALD PRO-107; ASP-174; MET-254; GLY-389; GLN-401; TRP-418; LYS-609; CYS-617 AND GLY-617;

Determination of 30 X-linked adrenoleukodystrophy mutations, including 15 not previously described.
Lachtermacher M.B.; Seuanez H.N.; Moser A.B.; Moser H.W.; Smith K.D.;
Hum. Mutat. 15:348-353(2000)
Cited for: VARIANTS ALD ARG-103; ARG-116; SER-152; CYS-174; TRP-189; THR-218; PRO-229; ASP-298; GLN-401; TRP-401; TRP-418; LEU-543; HIS-554; VAL-616; ARG-633 AND PRO-646;

Detection of mutations in the ALD gene (ABCD1) in seven Italian families: description of four novel mutations.
Lira M.G.; Mottes M.; Pignatti P.F.; Medica I.; Uziel G.; Cappa M.; Bertini E.; Rizzuto N.; Salviati A.;
Hum. Mutat. 16:271-271(2000)
Cited for: VARIANTS ALD GLN-401; TRP-418; LEU-543 AND ARG-556;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P33897: Variant p.Arg418Trp