Wilson’s disease in Lebanon and regional countries: Homozygosity and hepatic phenotype predominance

doi:10.3748/wjg.v23.i36.6715

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World Journal of Gastroenterology

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1007-9327

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Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA

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World J Gastroenterol. Sep 28, 2017; 23(36): 6715-6725
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