| 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 |
| LEE40095 | Proband | Male | CHINA |
| Phenotypic group | Disease |
| Reference ID | PubMed ID | Reference |
| 6 | 27050310 | Lee WS, Teo KM, Ng RT, Chong SY, Kee BP, Chua KH. Novel mutations in SKIV2L and TTC37 genes in Malaysian children with trichohepatoenteric syndrome. Gene. 2016 Jul 15;586(1):1-6. doi: 10.1016/j.gene.2016.03.049. Epub 2016 Apr 12. PubMed PMID: 27050310. |