UniProtKB/SwissProt variant VAR

Variant information

Variant position:

64

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 Serine (S) to Proline (P) at position 64 (S64P, p.Ser64Pro).

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 small size and polar (S) to medium size and hydrophobic (P)

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

BLOSUM score:

-1

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 rs9690787 [ dbSNP | Ensembl ]

Sequence information

Variant position:

64

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

Protein sequence length:

814

The length of the canonical sequence.

Location on the sequence:

EAAGTEASSEEVGIAEAGPE S EVRTEPAAEAEAASGPSESP

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                         EAAGTEASSEEVGIAEAGPESEVRTEPAAEAEAASGPSESP

Mouse                         EVGQTEDAEED---AEAGPEPEVRAKPAAQSEEETATSPAA

Rat                           EVGRTEDAEED---AEARPEPEVRAKPAAQSEEETAASPAA

Bovine                        EAAGGED-------AEAGPGPEGPAEPAADGEGKADATPGA

Xenopus laevis                -----------------------------------------

Caenorhabditis elegans        -----------------------------------------

Drosophila                    -----------------------------------------

Slime mold                    -----------------------------------------

Baker's yeast                 -----------------------------------------

Fission yeast                 -----------------------------------------

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 – 814	Eukaryotic translation initiation factor 3 subunit B
Region	1 – 158	Disordered
Modified residue	78 – 78	Phosphoserine
Modified residue	81 – 81	Phosphoserine
Modified residue	83 – 83	Phosphoserine

Literature citations

Biochemical characterization of mammalian translation initiation factor 3 (eIF3). Molecular cloning reveals that p110 subunit is the mammalian homologue of Saccharomyces cerevisiae protein Prt1.
Chaudhuri J.; Chakrabarti A.; Maitra U.;
J. Biol. Chem. 272:30975-30983(1997)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); FUNCTION; VARIANT PRO-64;

The human homologue of the yeast Prt1 protein is an integral part of the eukaryotic initiation factor 3 complex and interacts with p170.
Methot N.; Rom E.; Olsen H.; Sonenberg N.;
J. Biol. Chem. 272:1110-1116(1997)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2); VARIANT PRO-64;

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1); VARIANT PRO-64;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P55884: Variant p.Ser64Pro