UniProtKB/Swiss-Prot P05231: Variant p.Pro32Ser

Interleukin-6
Gene: IL6
Chromosomal location: 7p15.3
Variant information

Variant position:  32
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Polymorphism
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants have been found in patients and disease-association is reported in literature. However, this classification is not a definitive assessment of variant pathogenicity.
  • Polymorphism: No disease-association has been reported.
  • Unclassified: Variants have been found in patients but disease-association remains unclear.

Residue change:  From Proline (P) to Serine (S) at position 32 (P32S, p.Pro32Ser).
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 hydrophobic (P) 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

Polymorphism:  Genetic variations in IL6 may be correlated with bone mineral density (BMD). Low BMD is a risk factor for osteoporotic fracture. Osteoporosis is characterized by reduced bone mineral density, disrutption of bone microarchitecture, and the alteration of the amount and variety of non-collagenous proteins in bone. Osteoporotic bones are more at risk of fracture.
Additional information on the polymorphism described.

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



Sequence information

Variant position:  32
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  212
The length of the canonical sequence.

Location on the sequence:   VAFSLGLLLVLPAAFPAPVP  P GEDSKDVAAPHRQPLTSSER
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                         VAF-SLGLLLVLPAAFPAPVPPGEDS------KDVAAPHRQPLTSSER

Rhesus macaque                VAF-SLGLLLVLPAAFPAPVLPGEDS------KNVAAPHSQ

Mouse                         VAF--LGLMLVTTTAFPTSQVRRGDF------TEDTTPNRP

Rat                           VAF--LGLMLLTATAFPTSQVRRGDF------TEDTTHNRP

Pig                           VAF-SLGLLLVMATAFPTPERLEEDA------KGDATSDKM

Bovine                        FAV-SLGLLLVMTSAFPTPGPLGEDF------KNDTTPGRL

Rabbit                        LGC-SLALLLVVATAFPTSAPVREDS------NTKASPDKT

Goat                          LAV-SLGLLLVMTSAFPTPGPLGEDF------KNDTTPSRL

Sheep                         LAV-SLGLLLVMTSAFPTPGPLGEDF------KNDTTPSRL

Cat                           LAF-SLGLLLVVATAFPTPGPLGGD----------ATSNRL

Dog                           -AF-SLGLLLVMATAFPTPGPLAGDS------KDDATSNSL

Horse                         VAF-SLGLLLVMATAFPTPLPLGED---------ETTSNGP

Chicken                       VALLPLLLPLLLPPAAAVPLPAAADSSGEVGLEEEAGARRA

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
Chain 30 – 212 Interleukin-6


Literature citations

Submission
SeattleSNPs variation discovery resource;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS SER-32 AND VAL-162;

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.