UniProtKB/SwissProt variant VAR

Variant information

Variant position:

48

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 Phenylalanine (F) to Serine (S) at position 48 (F48S, p.Phe48Ser).

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 aromatic (F) to small size and polar (S)

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:

Associated with diabetes mellitus type-II; Los-Angeles.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs80356668 [ dbSNP | Ensembl ]

Sequence information

Variant position:

48

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

Protein sequence length:

110

The length of the canonical sequence.

Location on the sequence:

QHLCGSHLVEALYLVCGERG F FYTPKTRREAEDLQVGQVEL

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                         QHLCGSHLVEALYLVCGERGFFYTPKTRREAEDLQVG--QVEL

Gorilla                       QHLCGSHLVEALYLVCGERGFFYTPKTRREAEDLQVG--QV

                              QHLCGSHLVEALYLVCGERGFFYTPKARREVEDLQVR--DV

Chimpanzee                    QHLCGSHLVEALYLVCGERGFFYTPKTRREAEDLQVG--QV

Pig                           QHLCGSHLVEALYLVCGERGFFYTPKARREAENPQAG--AV

Bovine                        QHLCGSHLVEALYLVCGERGFFYTPKARREVEGPQVG--AL

Rabbit                        QHLCGSHLVEALYLVCGERGFFYTPKSRREVEELQVG--QA

Goat                          QHLCGSHLVEALYLVCGERGFFYTPKA--------------

Sheep                         QHLCGSHLVEALYLVCGERGFFYTPKARREVEGPQVG--AL

Cat                           QHLCGSHLVEALYLVCGERGFFYTPKARREAEDLQGK--DA

Horse                         QHLCGSHLVEALYLVCGERGFFYTPKAXXEAEDPQVG--EV

Chicken                       QHLCGSHLVEALYLVCGERGFFYSPKARRDVEQPLVS--SP

Zebrafish                     QHLCGSHLVDALYLVCGPTGFFYNPK--RDVE-PLLGFLPP

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
Peptide	25 – 54	Insulin B chain
Disulfide bond	31 – 96	Interchain (between B and A chains)
Disulfide bond	43 – 109	Interchain (between B and A chains)
Beta strand	48 – 50

Literature citations

Studies on mutant human insulin genes: identification and sequence analysis of a gene encoding [SerB24]insulin.
Haneda M.; Chan S.J.; Kwok S.C.M.; Rubenstein A.H.; Steiner D.F.;
Proc. Natl. Acad. Sci. U.S.A. 80:6366-6370(1983)
Cited for: VARIANT LOS ANGELES SER-48;

Identification of a mutant human insulin predicted to contain a serine-for-phenylalanine substitution.
Shoelson S.; Fickova M.; Haneda M.; Nahum A.; Musso G.; Kaiser E.T.; Rubenstein A.H.; Tager H.;
Proc. Natl. Acad. Sci. U.S.A. 80:7390-7394(1983)
Cited for: VARIANTS LOS ANGELES SER-48 AND CHICAGO LEU-49;

Paradoxical structure and function in a mutant human insulin associated with diabetes mellitus.
Hua Q.-X.; Shoelson S.E.; Inouye K.; Weiss M.A.;
Proc. Natl. Acad. Sci. U.S.A. 90:582-586(1993)
Cited for: STRUCTURE BY NMR OF 90-110 AND 25-54 OF VARIANT LOS-ANGELES SER-48; DISULFIDE BONDS;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P01308: Variant p.Phe48Ser