UniProtKB/SwissProt variant VAR

Variant information

Variant position:

83

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 Phenylalanine (F) to Leucine (L) at position 83 (F83L, p.Phe83Leu).

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 (F) to medium size and hydrophobic (L)

The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:

0

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 GILBS; displays less than 10% of wild-type bilirubin glucuronidation activity.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs56059937 [ dbSNP | Ensembl ]

Sequence information

Variant position:

83

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

Protein sequence length:

533

The length of the canonical sequence.

Location on the sequence:

DASLYIRDGAFYTLKTYPVP F QREDVKESFVSLGHNVFEND

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                         DASLYIRDGAFYTLKTYPVPFQREDVKESFVSLGHNVFEND

Mouse                         EASIHIKEGSFYTLRKFPVPFQKENVTATLVELGRTAFNQD

Rat                           EASIHIKEGSFYTMRKYPVPFQNENVTAAFVELGRSVFDQD

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	26 – 533	UDP-glucuronosyltransferase 1A1
Glycosylation	102 – 102	N-linked (GlcNAc...) asparagine
Mutagenesis	71 – 71	G -> R. Decreased SN-38 glucuronosyltransferase activity.

Literature citations

Influence of mutations associated with Gilbert and Crigler-Najjar type II syndromes on the glucuronidation kinetics of bilirubin and other UDP-glucuronosyltransferase 1A substrates.
Udomuksorn W.; Elliot D.J.; Lewis B.C.; Mackenzie P.I.; Yoovathaworn K.; Miners J.O.;
Pharmacogenet. Genomics 17:1017-1029(2007)
Cited for: FUNCTION (ISOFORM 1); CATALYTIC ACTIVITY; KINETIC PARAMETERS; SUBSTRATE SPECIFICITY; CHARACTERIZATION OF VARIANTS CN2 ARG-71; LEU-83; GLN-229 AND ASP-486;

Novel missense mutation of the UGT1A1 gene in Thai siblings with Gilbert's syndrome.
Sutomo R.; Laosombat V.; Sadewa A.H.; Yokoyama N.; Nakamura H.; Matsuo M.; Nishio H.;
Pediatr. Int. 44:427-432(2002)
Cited for: VARIANT GILBS LEU-83;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P22309: Variant p.Phe83Leu