UniProtKB/SwissProt variant VAR

Variant information

Variant position:

68

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 Leucine (L) to Methionine (M) at position 68 (L68M, p.Leu68Met).

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:

Similar physico-chemical property. Both residues are medium size and hydrophobic.

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

Other resources:

Links to websites of interest for the variant.

Variant rs121908279 [ dbSNP | Ensembl ]

Sequence information

Variant position:

68

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:

FFYTPKTRREAEDLQVGQVE L GGGPGAGSLQPLALEGSLQK

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                         FFYTPKTRREAEDLQVG--QVELGGGPGAGSLQPLALEGSLQK

Gorilla                       FFYTPKTRREAEDLQVG--QVELGGGPGAGSLQPLALEGSL

                              FFYTPKARREVEDLQVR--DVELAGAPGEGGLQPLALEGAL

Chimpanzee                    FFYTPKTRREAEDLQVG--QVELGGGPGAGSLQPLALEGSL

Pig                           FFYTPKARREAENPQAG--AVELGG--GLGGLQALALEGPP

Bovine                        FFYTPKARREVEGPQVG--ALELAGGPGAGGL-----EGPP

Rabbit                        FFYTPKSRREVEELQVG--QAELGGGPGAGGLQPSALELAL

Goat                          FFYTPKA----------------------------------

Sheep                         FFYTPKARREVEGPQVG--ALELAGGPGAGGL-----EGPP

Cat                           FFYTPKARREAEDLQGK--DAELGEAPGAGGLQPSALEAPL

Horse                         FFYTPKAXXEAEDPQVG--EVELGGGPGLGGLQPLALAGPQ

Chicken                       FFYSPKARRDVEQPLVS--SPLRGE---AGVLPFQQEEYEK

Zebrafish                     FFYNPK--RDVE-PLLGFLPPKSAQETEVADFAFKDHAELI

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
Propeptide	57 – 87	C peptide
Disulfide bond	31 – 96	Interchain (between B and A chains)
Disulfide bond	43 – 109	Interchain (between B and A chains)

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 PNDM4 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 variant pages

UniProtKB/Swiss-Prot P01308: Variant p.Leu68Met