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Last update

21/6/2017

Gene: interleukin 1 receptor antagonist; IL1RN

Gene Symbol: IL1RN
OMIM: 147679
Chromosome location: 2q13

Related informations: NCBI Gene Genome Browser Ensembl UniProt GeneCards Kyoto Encyclopedia BioGPS HGNC HPRD

Interleukin 1 receptor antagonist deficiency || c.355C>T

Phenotype:	Interleukin 1 receptor antagonist deficiency
Dna Change:	c.355C>T
Protein Change:	p.Gln119X
Mutation Type:	Substitution
Mutation Effect:	Nonsense
Location:	exon 4
Transcript:	NM_173842.2

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Turkey	NA	NA	2 patients	NA	Altiok E et al., 2012Altiok E, Aksoy F, Perk Y, Taylan F, Kim PW, Ilıkkan B, Asal GT, Goldbach-Mansky R, Sanal O, . A novel mutation in the interleukin-1 receptor antagonist associated with intrauterine disease onset.. Clin. Immunol.. 2012; 145(1):77-81

Interleukin 1 receptor antagonist deficiency ||

Phenotype:	Interleukin 1 receptor antagonist deficiency
Dna Change:
Protein Change:	p.R26X
Mutation Type:
Mutation Effect:	Nonsense
Location:
Transcript:

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Turkey	NA	NA	1 patient	NA	Ulusoy E et al., 2015Ulusoy E, Karaca NE, El-Shanti H, Kilicoglu E, Aksu G, Kutukculer N, . Interleukin-1 receptor antagonist deficiency with a novel mutation; late onset and successful treatment with canakinumab: a case report.. J Med Case Rep. 2015; 9(1):145

References

Altiok E, Aksoy F, Perk Y, Taylan F, Kim PW, Ilıkkan B, Asal GT, Goldbach-Mansky R, Sanal O, A novel mutation in the interleukin-1 receptor antagonist associated with intrauterine disease onset.Clin. Immunol.. 2012; 145(1):77-81

Ulusoy E, Karaca NE, El-Shanti H, Kilicoglu E, Aksu G, Kutukculer N, Interleukin-1 receptor antagonist deficiency with a novel mutation; late onset and successful treatment with canakinumab: a case report.J Med Case Rep. 2015; 9(1):145

Created by Hicham Charoute.

Mediterranean Founder Mutation Database (MFMD)

Gene: interleukin 1 receptor antagonist; IL1RN

References