UniProtKB/SwissProt variant VAR

Variant information

Variant position:

272

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 Glutamate (E) to Glycine (G) at position 272 (E272G, p.Glu272Gly).

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 acidic (E) to glycine (G)

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 a patient with amyotrophic lateral sclerosis.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs139938730 [ dbSNP | Ensembl ]

Sequence information

Variant position:

272

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

Protein sequence length:

524

The length of the canonical sequence.

Location on the sequence:

MLTEKDARYLAVKEVLCHLI E CNKDVPGISQINWVIHVVDS

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                         MLTEKDARYLAVKEVLCHLIECNKDVPGISQ-----INWVIHVVDS

Mouse                         LLPERDPRYLTVKEMVYHLTQCNRDVPGISE-----TNWVV

Rat                           LLPEEDPRYLTVKKVVYHLTQCNQDVPGVSE-----INWVV

Bovine                        MLTEKDARYVAVKAVVHHLIECNQDIPGISE-----INWII

Zebrafish                     LIASSDPRHKVVEQVVQILAQRNQDIAEISA-----VPWTV

Baker's yeast                 ILPPQHPLSIKIENIFMKIVEAAYKDPSVDNSLLDGIKWEI

Fission yeast                 MLPSYHPTTLYVSRVLKRIIA----VSGMSD-----LKWEL

Literature citations

Resequencing of 29 candidate genes in patients with familial and sporadic amyotrophic lateral sclerosis.
Daoud H.; Valdmanis P.N.; Gros-Louis F.; Belzil V.; Spiegelman D.; Henrion E.; Diallo O.; Desjarlais A.; Gauthier J.; Camu W.; Dion P.A.; Rouleau G.A.;
Arch. Neurol. 68:587-593(2011)
Cited for: VARIANTS TYR-69; LEU-117; GLY-272; LEU-329 AND TYR-365;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q96E52: Variant p.Glu272Gly