UniProtKB/Swiss-Prot P35225: Variant p.Arg144Gln

Interleukin-13
Gene: IL13
Chromosomal location: 5q31
Variant information

Variant position:  144
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 Arginine (R) to Glutamine (Q) at position 144 (R144Q, p.Arg144Gln).
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 (Q)
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

Variant description:  Associated with increased risk for asthma development; at homozygosity associated with higher levels of serum total IgE in some allergic rhinitis patients.
Any additional useful information about the variant.

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



Sequence information

Variant position:  144
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  146
The length of the canonical sequence.

Location on the sequence:   EVAQFVKDLLLHLKKLFREG  R FN
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                         EVAQFVKDLLLHLKKLFREGRFN

Rhesus macaque                EVAQFVKDLLVHLKKLFREGRFN

Chimpanzee                    EVAQFVKDLLLHLKKLFREGRFN

Mouse                         EVAHFITKLLSYTKQLFRHGPF-

Rat                           EVAQFISKLLNYSKQLFRYGH--

Pig                           EVAQFVKDLLKHLRMIFRHG---

Bovine                        EVAQFLKDLLRHSRIVFRNERFN

Dog                           EVIQLVKNLLTYVRGVYRHGNFR

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 25 – 146 Interleukin-13


Literature citations

Submission
SeattleSNPs variation discovery resource;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT GLN-144;

The DNA sequence and comparative analysis of human chromosome 5.
Schmutz J.; Martin J.; Terry A.; Couronne O.; Grimwood J.; Lowry S.; Gordon L.A.; Scott D.; Xie G.; Huang W.; Hellsten U.; Tran-Gyamfi M.; She X.; Prabhakar S.; Aerts A.; Altherr M.; Bajorek E.; Black S.; Branscomb E.; Caoile C.; Challacombe J.F.; Chan Y.M.; Denys M.; Detter J.C.; Escobar J.; Flowers D.; Fotopulos D.; Glavina T.; Gomez M.; Gonzales E.; Goodstein D.; Grigoriev I.; Groza M.; Hammon N.; Hawkins T.; Haydu L.; Israni S.; Jett J.; Kadner K.; Kimball H.; Kobayashi A.; Lopez F.; Lou Y.; Martinez D.; Medina C.; Morgan J.; Nandkeshwar R.; Noonan J.P.; Pitluck S.; Pollard M.; Predki P.; Priest J.; Ramirez L.; Retterer J.; Rodriguez A.; Rogers S.; Salamov A.; Salazar A.; Thayer N.; Tice H.; Tsai M.; Ustaszewska A.; Vo N.; Wheeler J.; Wu K.; Yang J.; Dickson M.; Cheng J.-F.; Eichler E.E.; Olsen A.; Pennacchio L.A.; Rokhsar D.S.; Richardson P.; Lucas S.M.; Myers R.M.; Rubin E.M.;
Nature 431:268-274(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]; VARIANT GLN-144;

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]; VARIANT GLN-144;

Genetic variants of IL-13 signalling and human asthma and atopy.
Heinzmann A.; Mao X.-Q.; Akaiwa M.; Kreomer R.T.; Gao P.-S.; Ohshima K.; Umeshita R.; Abe Y.; Braun S.; Yamashita T.; Roberts M.H.; Sugimoto R.; Arima K.; Arinobu Y.; Yu B.; Kruse S.; Enomoto T.; Dake Y.; Kawai M.; Shimazu S.; Sasaki S.; Adra C.N.; Kitaichi M.; Inoue H.; Yamauchi K.; Tomichi N.; Kurimoto F.; Hamasaki N.; Hopkin J.M.; Izuhara K.; Shirakawa T.; Deichmann K.A.;
Hum. Mol. Genet. 9:549-559(2000)
Cited for: VARIANT GLN-144;

Identification and association of polymorphisms in the interleukin-13 gene with asthma and atopy in a Dutch population.
Howard T.D.; Whittaker P.A.; Zaiman A.L.; Koppelman G.H.; Xu J.; Hanley M.T.; Meyers D.A.; Postma D.S.; Bleecker E.R.;
Am. J. Respir. Cell Mol. Biol. 25:377-384(2001)
Cited for: VARIANT GLN-144;

A common IL-13 Arg130Gln single nucleotide polymorphism among Chinese atopy patients with allergic rhinitis.
Wang M.; Xing Z.-M.; Lu C.; Ma Y.-X.; Yu D.-L.; Yan Z.; Wang S.-W.; Yu L.-S.;
Hum. Genet. 113:387-390(2003)
Cited for: VARIANT GLN-144;

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.