| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.1891G>A | p.Gly631Ser | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GGC | Gly | AGC | Ser | G->A | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| Yes, non coding strand | Yes |
| At the mRNA level | On restriction map |
| New restriction site(s): none Lost restriction site(s): BstU I, Hae III |
| Conservation (0-1) | SIFT (0-1) | UMD-predictor (0-100) |
|---|---|---|
| 0 | - | 71 (Probably pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| LEE30094 | Proband | Male | CHINA |
| Phenotypic group | Disease |
| Reference ID | PubMed ID | Reference |
| 5 | 25194001 | Kammermeier J, Drury S, James CT, Dziubak R, Ocaka L, Elawad M, Beales P, Lench N, Uhlig HH, Bacchelli C, Shah N. Targeted gene panel sequencing in children with very early onset inflammatory bowel disease--evaluation and prospective analysis. J Med Genet. 2014 Nov;51(11):748-55. doi: 10.1136/jmedgenet-2014-102624. Epub 2014 Sep 5. PubMed PMID: 25194001. |