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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P01308: Variant p.Arg89Cys

Insulin
Gene: INS
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Variant information Variant position: help 89 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Arginine (R) to Cysteine (C) at position 89 (R89C, p.Arg89Cys). 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: help 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: help -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: help In PNDM4. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 89 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 110 The length of the canonical sequence.
Location on the sequence: help GGGPGAGSLQPLALEGSLQK R GIVEQCCTSICSLYQLENYC 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         GGGP--GAGSLQPLALEGSLQKRGIVEQCCTSICSLYQLENYC

Gorilla                       GGGP--GAGSLQPLALEGSLQKRGIVEQCCTSICSLYQLEN

                              AGAP--GEGGLQPLALEGALQKRGIVEQCCTSICSLYQLEN

Chimpanzee                    GGGP--GAGSLQPLALEGSLQKRGIVEQCCTSICSLYQLEN

Pig                           GG----GLGGLQALALEGPPQKRGIVEQCCTSICSLYQLEN

Bovine                        AGGP--GAGGL-----EGPPQKRGIVEQCCASVCSLYQLEN

Rabbit                        GGGP--GAGGLQPSALELALQKRGIVEQCCTSICSLYQLEN

Goat                          -----------------------GIVEQCCAGVCSLYQLEN

Sheep                         AGGP--GAGGL-----EGPPQKRGIVEQCCAGVCSLYQLEN

Cat                           GEAP--GAGGLQPSALEAPLQKRGIVEQCCASVCSLYQLEH

Horse                         GGGP--GLGGLQPLALAGPQQXXGIVEQCCTGICSLYQLEN

Chicken                       RG----EAGVLPFQQEEYEKVKRGIVEQCCHNTCSLYQLEN

Zebrafish                     KSAQETEVADFAFKDHAELIRKRGIVEQCCHKPCSIFELQN
Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Disulfide bond 31 – 96 Interchain (between B and A chains)
Disulfide bond 43 – 109 Interchain (between B and A chains)



Literature citations
Insulin gene mutations as a cause of permanent neonatal diabetes.
Stoy J.; Edghill E.L.; Flanagan S.E.; Ye H.; Paz V.P.; Pluzhnikov A.; Below J.E.; Hayes M.G.; Cox N.J.; Lipkind G.M.; Lipton R.B.; Greeley S.A.; Patch A.M.; Ellard S.; Steiner D.F.; Hattersley A.T.; Philipson L.H.; Bell G.I.;
Proc. Natl. Acad. Sci. U.S.A. 104:15040-15044(2007)
Cited for: VARIANTS PNDM4 ASP-24; ARG-32; SER-32; GLY-43; VAL-47; CYS-48; CYS-89; CYS-90; TYR-96 AND CYS-108; 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;
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.