UniProtKB/Swiss-Prot P01308: Variant p.Phe49Leu

Insulin
Gene: INS
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Variant information Variant position:

49 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 Leucine (L) at position 49 (F49L, p.Phe49Leu). 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 medium size and hydrophobic (L) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

0 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 Chicago. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs148685531 [ dbSNP | Ensembl ]

Sequence information Variant position:

49 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:

HLCGSHLVEALYLVCGERGF F YTPKTRREAEDLQVGQVELG 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                         HLCGSHLVEALYLVCGERGFFYTPKTRREAEDLQVGQVELG

Gorilla                       HLCGSHLVEALYLVCGERGFFYTPKTRREAEDLQVGQVELG

                              HLCGSHLVEALYLVCGERGFFYTPKARREVEDLQVRDVELA

Chimpanzee                    HLCGSHLVEALYLVCGERGFFYTPKTRREAEDLQVGQVELG

Pig                           HLCGSHLVEALYLVCGERGFFYTPKARREAENPQAGAVELG

Bovine                        HLCGSHLVEALYLVCGERGFFYTPKARREVEGPQVGALELA

Rabbit                        HLCGSHLVEALYLVCGERGFFYTPKSRREVEELQVGQAELG

Goat                          HLCGSHLVEALYLVCGERGFFYTPKA---------------

Sheep                         HLCGSHLVEALYLVCGERGFFYTPKARREVEGPQVGALELA

Cat                           HLCGSHLVEALYLVCGERGFFYTPKARREAEDLQGKDAELG

Horse                         HLCGSHLVEALYLVCGERGFFYTPKAXXEAEDPQVGEVELG

Chicken                       HLCGSHLVEALYLVCGERGFFYSPKARRDVEQPLV------

Zebrafish                     HLCGSHLVDALYLVCGPTGFFYNPK--RDVE-PLLGFLPPK

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
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: VARIANT HPRI SER-48; VARIANT LEU-49;

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.