2024-03-29 IL10RA - NM_001558.3 Location Usual name protein name Sequence change Alteration N base(s) Base substituted Classification Status Using In silico prediction? Fonctional test Functional approach? Consequence Techniques used Disease related symptoms Associated phenotype Zygosity in this patient Inheritance in this patient Ancestry/origin Comment Input date References Other PMID Exon 2 W45G p.(Trp45Gly) c.133T>G substitution 1 G>T Not classified UNKNOWN NO Sequencing Sanger Symptomatic Early onset IBD Unknown Unknown / 2014-11-07 Publication (PubMed PMID): 25373860 Exon 3 Y64* p.(Tyr64*) c.192T>G substitution 1 T>G Not classified UNKNOWN NO Sequencing Sanger Symptomatic Early onset IBD Unknown Unknown / 2014-11-07 Publication (PubMed PMID): 25373860 Exon 3 T84I p.(Thr84Ile) c.251C>T substitution 1 C>T Not classified UNKNOWN YES Unknown amino acid substitution Sequencing Sanger Symptomatic Non symptomatic Early onset IBD Unknown Unknown Germany/Caucasian 2012-12-06 Publication (PubMed PMID): 19890111 Exon 3 R101W p.(Arg101Trp) c.301C>T substitution 1 C>T Not classified UNKNOWN YES Unknown amino acid substitution Sequencing Sanger Symptomatic Early onset IBD Unknown Unknown Turkey/Turkish 2012-12-06 Publication (PubMed PMID): 22549091 Exon 3 R117H p.(Arg117His) c.350G>A substitution 1 G>A Not classified UNKNOWN YES Unknown amino acid substitution Sequencing Sanger Symptomatic Early onset IBD Unknown Unknown India/Indian 2012-12-06 Publication (PubMed PMID): 23158016 Exon 4 L125R p.(Leu125Arg) c.374T>G substitution 1 T>G Not classified UNKNOWN YES Unknown amino acid substitution Sequencing Sanger Symptomatic Non symptomatic Early onset IBD Unknown Unknown Pakistan/Pakistani 2012-12-06 Publication (PubMed PMID): 23158016 Exon 4 G141R p.(Gly141Arg) c.421G>A substitution 1 G>A Not classified UNKNOWN YES Unknown amino acid substitution Sequencing Sanger Symptomatic Early onset IBD Unknown Unknown Lebanon/Arab 2012-12-06 Publication (PubMed PMID): 19890111 Exon 4 I169T p.(Ile169Thr) c.506T>C substitution 1 T>C Not classified UNKNOWN UNKNOWN amino acid substitution Sequencing Sanger Symptomatic Early onset IBD Unknown Unknown Pacific island/ 2012-12-06 Publication (PubMed PMID): 22549091 Exon 4 T179T p.(Thr124Hisfs*8) c.537G>A substitution 1 G>A Not classified UNKNOWN YES Unknown The c.537G > A mutation caused 2 kinds of splicing variants; an 18 bp deletion of the 3' end of exon 4 and skipping of exon 4 (170 bp) Sequencing Sanger PCR product sizing Symptomatic Early onset IBD Unknown Unknown Japan/ 2016-12-27 Publication (PubMed PMID): 26822028 Exon 7 R351G p.(Arg351Gly) c.1051A>G substitution 1 A>G Not classified UNKNOWN NO Sequencing NGS Symptomatic Non symptomatic CAPS Unknown Unknown United kingdom/ 2014-01-19 Publication (PubMed PMID): 24431285 Exon 7 V406L p.(Val406Leu) c.1216G>C substitution 1 G>C Not classified UNKNOWN NO Sequencing Sanger Sequencing NGS Symptomatic Recurrent Fever Unknown Unknown France/Caucasian 2015-12-04 Maurier F Dumont B Sarrabay G Touitou I Personal communication