UniProtKB/SwissProt variant VAR

Variant information

Variant position:

6

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

Type of variant:

LP/P [Disclaimer]

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 Arginine (R) to Cysteine (C) at position 6 (R6C, p.Arg6Cys).

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 basic (R) to medium size and polar (C)

The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:

-3

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 MODY10.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs121908278 [ dbSNP | Ensembl ]

Sequence information

Variant position:

6

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:

MALWM R LLPLLALLALWGPDPAAAFV

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                         MALWMRLLPLLALLALWGPDPAAAFV

Gorilla                       MALWMRLLPLLALLALWGPDPAAAFV

                              MALWMRLLPLLALLALWAPAPTRAFV

Chimpanzee                    MALWMRLLPLLVLLALWGPDPASAFV

Pig                           MALWTRLLPLLALLALWAPAPAQAFV

Bovine                        MALWTRLRPLLALLALWPPPPARAFV

Rabbit                        MASLAALLPLLALLVLCRLDPAQAFV

Goat                          ------------------------FV

Sheep                         MALWTRLVPLLALLALWAPAPAHAFV

Cat                           MAPWTRLLPLLALLSLWIPAPTRAFV

Horse                         ------------------------FV

Chicken                       MALWIRSLPLLALLVFSGPGTSYAAA

Zebrafish                     MAVWLQAGALLVLLVVSSVSTNPG-T

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
Signal peptide	1 – 24

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.Arg6Cys