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UniProtKB/Swiss-Prot P22301: Variant p.Gly15Arg

Interleukin-10
Gene: IL10
Variant information

Variant position:  15
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 Glycine (G) to Arginine (R) at position 15 (G15R, p.Gly15Arg).
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 glycine (G) to large size and basic (R)
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

Polymorphism:  A polymorphism in IL10 promoter region is associated with resistance to graft-versus-host disease (GVHDS) [MIM:614395]. GVHDS is a major complication of allogeneic bone marrow transplantation, in which mature donor T-cells that contaminate the allogeneic bone marrow recognize the tissues of the recipient as foreign, causing a severe inflammatory disease.
Additional information on the polymorphism described.

Variant description:  In a family affected by Crohn disease; decreases secretion thereby reducing the anti-inflammatory effect.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  15
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  178
The length of the canonical sequence.

Location on the sequence:   MHSSALLCCLVLLT  G VRASPGQGTQSENSCTHFPG
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                         MHSSALLC-CLVLLTGVRASPGQGTQSENSCTHFPG

                              MHGSALLCCCLVLLAGVGASRHQSTLLEDDCTHFP

Rhesus macaque                MHSSALLC-CLVLLTGVRASPGQGTQSENSCTRFP

Chimpanzee                    MHSSALLC-CLVLLTGVRASPGQGTQSENSCTHFP

Mouse                         MPGSALLC-CLLLLTGMRISRGQYSREDNNCTHFP

Rat                           MPGSALLC-CLLLLAGVKTSKGHSIRGDNNCTHFP

Pig                           MPSSALLY-CLIFLAGVAAS----IKSENSCIHFP

Bovine                        MHSSALLC-CLVFLAGVAASRDASTLSDSSCIHLP

Rabbit                        MLSSALLC-CLVFLGGTGASRGQDTPAENSCIHFP

Sheep                         PSSSAVLC-CLVFLAGVAASRDASTLSDSSCTHFP

Cat                           MHSSALLC-FLVFLAGVGASRHQSTLSEDNCTHFS

Horse                         MHSSALLC-YLVFLAGVGASRDRGTQSENSCTHFP

Chicken                       ----MQTC-CQALLLLLAACTLPAHCLEPTCLHFS

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.

TypePositionsDescription
Signal peptide 1 – 18


Literature citations

A Gly15Arg mutation in the interleukin-10 gene reduces secretion of interleukin-10 in Crohn disease.
van der Linde K.; Boor P.P.; Sandkuijl L.A.; Meijssen M.A.; Savelkoul H.F.; Wilson J.H.; de Rooij F.W.;
Scand. J. Gastroenterol. 38:611-617(2003)
Cited for: VARIANT ARG-15;

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.