©The Author(s) 2017.
World J Gastroenterol. Sep 28, 2017; 23(36): 6715-6725
Published online Sep 28, 2017. doi: 10.3748/wjg.v23.i36.6715
Published online Sep 28, 2017. doi: 10.3748/wjg.v23.i36.6715
Table 3 Identified polymorphisms in the ATP7B gene of Lebanese patients with Wilson’s disease
| Polymorphism | Asp96Gly | Ser406Ala | Val456Leu | Lys832Arg | Arg952Lys | Ala1003 Ala | Val1140Ala | Ser1166Ser |
| Exon | 2 | 2 | 3 | 10 | 12 | 13 | 16 | 16 |
| Base change | GAC → GGC | TCT → GCT | GTG → CTG | AAG → AGG | AGA → AAA | GCG → GCA | GTC → GCC | AGC → AGT |
| Domain | Cu1-4 | Cu4 binding | Cu4/Cu5 | Td | Tm5 | ATP binding/Tm6 | ATP loop | ATP loop |
| Family | ||||||||
| U | HM | HM | HM | |||||
| Or | HM | HM | HM | HM | HM | |||
| S | ||||||||
| P1, P2, P31, P41, P59 | HM | HM | HM | |||||
| P7, P8 | HT | HT | HT | |||||
| P3, P4 | HM | HM | ||||||
| AH | HM | HM | HM | HM | ||||
| TF | HM | HM | HM | HM | HM | |||
| B | HM | HM | HM | HM | ||||
| H | HM | HM | HM | HM | HM | |||
| Ha | HM | |||||||
| Is | HM | HM | HM | HM | ||||
| Z | HM | HM | HM | HM | HM | |||
| Ri | HM | HM | HM | |||||
| Sc | HT | HM | HM | HM | ||||
| Gh | HM | HM | HM | HM | HM | |||
| Ah | HM | HM | HM | HM |
- Citation: Barada K, El Haddad A, Katerji M, Jomaa M, Usta J. Wilson’s disease in Lebanon and regional countries: Homozygosity and hepatic phenotype predominance. World J Gastroenterol 2017; 23(36): 6715-6725
- URL: https://www.wjgnet.com/1007-9327/full/v23/i36/6715.htm
- DOI: https://dx.doi.org/10.3748/wjg.v23.i36.6715