. 2022 Jan 13;186(3):351–366. doi: 10.1530/EJE-21-0433
This work is licensed under a Table 3.
Activating variants in public databases and transcriptional activity.a,b,c
| Nucleotide change | Protein change | Variant ID (rs#) | 1000 genomes | gnomAD | Transactivation activityc |
|---|---|---|---|---|---|
| c.1144G>A | p.V382M | 371918069 | – | 1 EAS 9 EUR 6 SAS (1 homozygote) Allele frequency: 16/282840 (0.00005657) |
2.06** |
| c.1149C>G | p.I383M | – | – | – | |
| c.1156T>A | pT386S | – | – | – | |
| c.1181A>C | p.Y394S | 142287570 | 1 EUR (TSN) Allele frequency: 1/5008 (0.000199680) |
134 Ashkenazi Jewish (2 homozygotes) 33 EUR 1 AFR 1 Latino 5 Other Allele frequency: 174/282840 (0.0006151) |
2.38** |
aReference sequences: NM_004752.4 (transcript), NP_004743.1 (protein); bNo entry in ClinVar and HGMD (The Human Gene Mutation Database); cfold over WT, data from GBS-luciferase assay, measured in Guan et al. (24). (**, P <0.01).
AFR, African, African–American; EAS, East Asian; gnomAD, Genome Aggregation Database; SAS, South Asian; EUR (European non-Finnish), TSN, Tuscany, Italy.