UniProtKB/Swiss-Prot O60841: Variant p.Lys522Thr

Eukaryotic translation initiation factor 5B
Gene: EIF5B
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Variant information Variant position:

522 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 Lysine (K) to Threonine (T) at position 522 (K522T, p.Lys522Thr). 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 (K) to medium size and polar (T) 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 rs7558074 [ dbSNP | Ensembl ]

Sequence information Variant position:

522 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

1220 The length of the canonical sequence.
Location on the sequence:

GLDDWEAMASDEETEKVEGN K VHIEVKENPEEEEEEEEEEE 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                         GLDDWEAMASDEETEKVEGNKVHIEVKENPEEEEEEEEEEE

Mouse                         GLDDWEAMASDEEREK-EGNMIHIEVEENPEEEEE--EEEE

Rat                           GLDDWEAMASDEEREK-EGNMIHIEVEENPEEEEE--EEED

Slime mold                    VMDSWDN------------------------DDYETVEEIQ

Baker's yeast                 LIDDWENLALGDD------------------DEEGTNEETQ

Fission yeast                 VFDDWEAAL----------------------EEPEVAENNE

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 – 1220	Eukaryotic translation initiation factor 5B
Region	430 – 608	Disordered
Compositional bias	513 – 529	Basic and acidic residues

Literature citations
Cloning and characterization of hIF2, a human homologue of bacterial translation initiation factor 2 and its interaction with HIV-1 matrix.
Wilson S.A.; Sieiro-Vazquez C.; Edwards N.J.; Iourin O.; Byles E.D.; Kotsopoulou E.; Adamson C.S.; Kingsman S.M.; Kingsman A.J.; Martin-Rendon E.;
Biochem. J. 342:97-103(1999)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANT THR-522; Universal conservation in translation initiation revealed by human and archaeal homologs of bacterial translation initiation factor IF2.
Lee J.H.; Choi S.K.; Roll-Mecak A.; Burley S.K.; Dever T.E.;
Proc. Natl. Acad. Sci. U.S.A. 96:4342-4347(1999)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; MUTAGENESIS OF VAL-640; HIS-706 AND ASP-759; CHARACTERIZATION; VARIANT THR-522; Initial characterization of the human central proteome.
Burkard T.R.; Planyavsky M.; Kaupe I.; Breitwieser F.P.; Buerckstuemmer T.; Bennett K.L.; Superti-Furga G.; Colinge J.;
BMC Syst. Biol. 5:17-17(2011)
Cited for: VARIANT [LARGE SCALE ANALYSIS] THR-522; IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS];

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.