UniProtKB/SwissProt variant VAR

Variant information

Variant position:

171

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 Serine (S) to Phenylalanine (F) at position 171 (S171F, p.Ser171Phe).

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 large size and aromatic (F)

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

BLOSUM score:

-2

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 VWM; with ovarian failure.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs104894428 [ dbSNP | Ensembl ]

Sequence information

Variant position:

171

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

Protein sequence length:

351

The length of the canonical sequence.

Location on the sequence:

IAAQALEHIHSNEVIMTIGF S RTVEAFLKEAARKRKFHVIV

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                         IAAQALEHIHSNEVIMTIGF-SRTVEAFLKEAARK--RKFHVIV

Mouse                         IAAQALEHIHSNEVIMTIGY-SRTVEAFLKEAARK--RKFH

Rat                           IAAQALEHIHSNEVIMTIGF-SRTVEAFLREAAQK--RKFH

Bovine                        IAAQALEHIHSNEVIMTIGF-SRTVEAFLREAARK--RKFH

Rabbit                        IAAQALEHIHSNEVIMTIGL-SRTVEAFLREAARK--RKFH

Slime mold                    VAEQAIEHIHSNETIMTLGC-SRTVEEFLKEAARK--RSFK

Baker's yeast                 IQQIAIDLIHDHEILLTPTPDSKTVLKFLITARERSNRTFT

Fission yeast                 IEVQSMDHLHSNEIILTQGC-SKTVEAFLRFAAKK--RKFS

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 – 351	Translation initiation factor eIF-2B subunit beta

Literature citations

Ovarian failure related to eukaryotic initiation factor 2B mutations.
Fogli A.; Rodriguez D.; Eymard-Pierre E.; Bouhour F.; Labauge P.; Meaney B.F.; Zeesman S.; Kaneski C.R.; Schiffmann R.; Boespflug-Tanguy O.;
Am. J. Hum. Genet. 72:1544-1550(2003)
Cited for: VARIANTS VWM PHE-171 AND GLY-213;

Identification of ten novel mutations in patients with eIF2B-related disorders.
Ohlenbusch A.; Henneke M.; Brockmann K.; Goerg M.; Hanefeld F.; Kohlschutter A.; Gartner J.;
Hum. Mutat. 25:411-411(2005)
Cited for: VARIANTS VWM PHE-171; SER-196; VAL-200 AND GLY-213;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P49770: Variant p.Ser171Phe