UniProtKB/SwissProt variant VAR

Variant information

Variant position:

96

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

Type of variant:

Disease [Disclaimer]

The variants are classified into three categories: Disease, Polymorphism and Unclassified.

Disease: Variants implicated in disease according to literature reports.
Polymorphism: Variants not reported to be implicated in disease.
Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:

From Cysteine (C) to Serine (S) at position 96 (C96S, p.Cys96Ser).

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 polar (C) 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

Involvement in disease:

Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]: A rare form of diabetes distinct from childhood-onset autoimmune diabetes mellitus type 1. It is characterized by insulin-requiring hyperglycemia that is diagnosed within the first months of life. Permanent neonatal diabetes requires lifelong therapy. {ECO:0000269|PubMed:17855560, ECO:0000269|PubMed:18162506}. Note=The disease is caused by mutations affecting the gene represented in this entry.

The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:

In PNDM.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs80356671 [ dbSNP | Ensembl ]

Sequence information

Variant position:

96

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:

SLQPLALEGSLQKRGIVEQC C TSICSLYQLENYCN

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                         SLQPLALEGSLQKRGIVEQCCTSICSLYQLENYCN

Gorilla                       SLQPLALEGSLQKRGIVEQCCTSICSLYQLENYCN

                              GLQPLALEGALQKRGIVEQCCTSICSLYQLENYCN

Chimpanzee                    SLQPLALEGSLQKRGIVEQCCTSICSLYQLENYCN

Pig                           GLQALALEGPPQKRGIVEQCCTSICSLYQLENYCN

Bovine                        GL-----EGPPQKRGIVEQCCASVCSLYQLENYCN

Rabbit                        GLQPSALELALQKRGIVEQCCTSICSLYQLENYCN

Goat                          --------------GIVEQCCAGVCSLYQLENYCN

Sheep                         GL-----EGPPQKRGIVEQCCAGVCSLYQLENYCN

Cat                           GLQPSALEAPLQKRGIVEQCCASVCSLYQLEHYCN

Horse                         GLQPLALAGPQQXXGIVEQCCTGICSLYQLENYCN

Chicken                       VLPFQQEEYEKVKRGIVEQCCHNTCSLYQLENYCN

Zebrafish                     DFAFKDHAELIRKRGIVEQCCHKPCSIFELQNYCN

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	90 – 110	Insulin A chain
Disulfide bond	31 – 96	Interchain (between B and A chains)
Disulfide bond	43 – 109	Interchain (between B and A chains)
Disulfide bond	95 – 100
Helix	91 – 97

Literature citations

Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood.
Edghill E.L.; Flanagan S.E.; Patch A.M.; Boustred C.; Parrish A.; Shields B.; Shepherd M.H.; Hussain K.; Kapoor R.R.; Malecki M.; MacDonald M.J.; Stoy J.; Steiner D.F.; Philipson L.H.; Bell G.I.; Hattersley A.T.; Ellard S.;
Diabetes 57:1034-1042(2008)
Cited for: VARIANTS PNDM ASP-24; ASP-29; ARG-32; SER-32; PRO-35; GLY-43; VAL-47; CYS-48; ARG-84; CYS-89; CYS-90; SER-96; TYR-96; CYS-101; CYS-103 AND CYS-108; VARIANT MODY10 CYS-6; VARIANT MET-68;

UniProtKB/Swiss-Prot P01308: Variant p.Cys96Ser