UniProtKB/Swiss-Prot Q04637: Variant p.Met432Val

Eukaryotic translation initiation factor 4 gamma 1
Gene: EIF4G1
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Variant information Variant position:

432 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 Methionine (M) to Valine (V) at position 432 (M432V, p.Met432Val). 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:

Similar physico-chemical property. Both residues are medium size and hydrophobic. 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 rs2178403 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

1599 The length of the canonical sequence.
Location on the sequence:

AVDLSPVSEPEEQAKEVTAS M APPTIPSATPATAPSATSPA 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                         AVDLSPVSEPEEQAKEVTASMAPPTIPSATPATAPSATSPA

Mouse                         AVDLSPVSEPEEQAKKVS-SAALASILSPAPPVAPSDTSPA

Rabbit                        AVDLSPVCEPEDQAKEDTASATPPAVPSATPATAPPATSPA

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 – 1599	Eukaryotic translation initiation factor 4 gamma 1
Region	332 – 600	Disordered

Literature citations
Amino acid sequence of the human protein synthesis initiation factor eIF-4 gamma.
Yan R.; Rychlik W.; Etchison D.; Rhoads R.E.;
J. Biol. Chem. 267:23226-23231(1992)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 7); VARIANT VAL-432; Generation of multiple isoforms of eukaryotic translation initiation factor 4GI by use of alternate translation initiation codons.
Byrd M.P.; Zamora M.; Lloyd R.E.;
Mol. Cell. Biol. 22:4499-4511(2002)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 8); VARIANTS ALA-161 AND VAL-432; ALTERNATIVE INITIATION; Human eukaryotic translation initiation factor 4G (eIF4G) possesses two separate and independent binding sites for eIF4A.
Imataka H.; Sonenberg N.;
Mol. Cell. Biol. 17:6940-6947(1997)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 37-1599 (ISOFORM 8); INTERACTION WITH EIF4A; VARIANTS ALA-161 AND VAL-432; MUTAGENESIS OF LEU-768; LEU-771; PHE-776; 842-LEU-LEU-843; 851-PHE-GLU-852; LEU-896; ILE-902; LEU-905; ARG-974; PHE-977; LEU-985 AND TRP-990; Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.
Gauci S.; Helbig A.O.; Slijper M.; Krijgsveld J.; Heck A.J.; Mohammed S.;
Anal. Chem. 81:4493-4501(2009)
Cited for: VARIANT [LARGE SCALE ANALYSIS] VAL-432; IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]; Translation initiator EIF4G1 mutations in familial Parkinson disease.
Chartier-Harlin M.C.; Dachsel J.C.; Vilarino-Guell C.; Lincoln S.J.; Lepretre F.; Hulihan M.M.; Kachergus J.; Milnerwood A.J.; Tapia L.; Song M.S.; Le Rhun E.; Mutez E.; Larvor L.; Duflot A.; Vanbesien-Mailliot C.; Kreisler A.; Ross O.A.; Nishioka K.; Soto-Ortolaza A.I.; Cobb S.A.; Melrose H.L.; Behrouz B.; Keeling B.H.; Bacon J.A.; Hentati E.; Williams L.; Yanagiya A.; Sonenberg N.; Lockhart P.J.; Zubair A.C.; Uitti R.J.; Aasly J.O.; Krygowska-Wajs A.; Opala G.; Wszolek Z.K.; Frigerio R.; Maraganore D.M.; Gosal D.; Lynch T.; Hutchinson M.; Bentivoglio A.R.; Valente E.M.; Nichols W.C.; Pankratz N.; Foroud T.; Gibson R.A.; Hentati F.; Dickson D.W.; Destee A.; Farrer M.J.;
Am. J. Hum. Genet. 89:398-406(2011)
Cited for: VARIANTS PARK18 VAL-502 AND HIS-1205; VARIANTS SER-71; ALA-161; CYS-311; VAL-432; 466-GLY--ALA-468 DEL; CYS-686; VAL-806; SER-829; ARG-1164; TRP-1197; ALA-1229; PRO-1233 AND SER-1257;

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.