UniProtKB/Swiss-Prot P41091: Variant p.Pro432Ser

Eukaryotic translation initiation factor 2 subunit 3
Gene: EIF2S3
Feedback?

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 Proline (P) to Serine (S) at position 432 (P432S, p.Pro432Ser). 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 medium size and hydrophobic (P) to small size and polar (S) 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
Variant description:

Found in patients with hypopituitarism with glucose dysregulation. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs2147131515 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

STGGRVSAVKADLGKIVLTN P VCTEVGEKIALSRRVEKHWR 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                         STGGRVSAVKADLGKIVLTNPVCTEVGEKIALSRRVEKHWR

Mouse                         STGGRVSAVKADLGKIVLTNPVCTEVGEKIALSRRVEKHWR

Rat                           STGGRVSAVKADLGKIVLTNPVCTEVGEKIALSRRVEKHWR

Pig                           STGGRVSAVKADLGKIVLTNPVCTEVGEKIALSRRVEKHWR

Bovine                        STGGRVSAVKADLGKIVLTNPVCTEVGEKIALSRRVEKHWR

Chicken                       STGGRVSAVKADLGKIVLTNPVCTEVGEKIALSRRVEKHWR

Zebrafish                     STGGRVSAVKADLAKIVLTNPVCTEVGEKIALSRRVEKHWR

Drosophila                    STGGRISATKGDLAKIVLTTPVCTEKGEKIALSRRVENHWR

Slime mold                    STGCRVVAVKHDLAKLQLLTPVCSQEGEKIALSRRVDKNWR

Baker's yeast                 ATGARVVAVKADMARLQLTSPACTEINEKIALSRRIEKHWR

Fission yeast                 STGGRVMMVKADMAKILLTAPACTEIGEKVALSRRIEKHWR

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	2 – 472	Eukaryotic translation initiation factor 2 subunit 3
Beta strand	422 – 435

Literature citations
Impaired EIF2S3 function associated with a novel phenotype of X-linked hypopituitarism with glucose dysregulation.
Gregory L.C.; Ferreira C.B.; Young-Baird S.K.; Williams H.J.; Harakalova M.; van Haaften G.; Rahman S.A.; Gaston-Massuet C.; Kelberman D.; Qasim W.; Camper S.A.; Dever T.E.; Shah P.; Robinson I.C.A.F.; Dattani M.T.;
EBioMedicine 42:470-480(2019)
Cited for: VARIANT SER-432; DEVELOPMENTAL STAGE; INVOLVEMENT IN HYPOPITUITARISM WITH GLUCOSE DYSREGULATION;

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.