Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28942074
rs28942074
0.900 GeneticVariation BEFREE Generation of an integration-free induced pluripotent stem cell (iPSC) line (ZZUNEUi003-A) from a Wilson's disease patient harboring a homozygous R778L mutation in ATP7B gene. 31783295

2019

dbSNP: rs28942074
rs28942074
0.900 GeneticVariation UNIPROT Identification of a novel Wilson disease gene mutation frequent in Upper Austria: a genetic and clinical study. 22763723

2012

dbSNP: rs28942074
rs28942074
0.900 GeneticVariation BEFREE We describe the generation of iPSCs from a Chinese patient with Wilson's disease that bears the R778L Chinese hotspot mutation in the ATP7B gene. 21593220

2011

dbSNP: rs28942074
rs28942074
0.900 GeneticVariation UNIPROT A genetic study of Wilson's disease in the United Kingdom. 23518715

2013

dbSNP: rs28942074
rs28942074
0.900 GeneticVariation BEFREE Identification of three novel mutations and a high frequency of the Arg778Leu mutation in Korean patients with Wilson disease. 9554743

1998

dbSNP: rs28942074
rs28942074
0.900 GeneticVariation BEFREE There is a correlation between R778L and hepatic manifestations in WD patient. 14966923

2004

dbSNP: rs28942074
rs28942074
0.900 GeneticVariation UNIPROT Mutations of ATP7B gene in Wilson disease in Japan: identification of nine mutations and lack of clear founder effect in a Japanese population. 9452121

1998

dbSNP: rs28942074
rs28942074
0.900 GeneticVariation UNIPROT Novel ATP7B mutations causing Wilson disease in several Israeli ethnic groups. 9482578

1998

dbSNP: rs28942074
rs28942074
0.900 GeneticVariation BEFREE In conclusion, WD patients with a single R778L heterozygote mutation can present with ALF as the initial clinical manifestation, and intermittent plasma transfusion combined with chelating therapy may alleviate fulminant WD without LT or ALS. 31010795

2020

dbSNP: rs28942074
rs28942074
0.900 GeneticVariation UNIPROT Efficient detection of mutations in Wilson disease by manifold sequencing. 8938442

1996

dbSNP: rs28942074
rs28942074
0.900 GeneticVariation UNIPROT Mutation analysis in patients of Mediterranean descent with Wilson disease: identification of 19 novel mutations. 10544227

1999

dbSNP: rs28942074
rs28942074
0.900 GeneticVariation UNIPROT Evidence for synergistic effects of PRNP and ATP7B mutations in severe neuropsychiatric deterioration. 24555712

2014

dbSNP: rs28942074
rs28942074
0.900 GeneticVariation UNIPROT A new ATP7B gene mutation with severe condition in two unrelated Iranian families with Wilson disease. 23159873

2013

dbSNP: rs28942074
rs28942074
0.900 GeneticVariation UNIPROT Molecular pathology and haplotype analysis of Wilson disease in Mediterranean populations. 8533760

1995

dbSNP: rs28942074
rs28942074
0.900 GeneticVariation BEFREE In the present study (i) we firstly observed that ApoE epsilon3/3 did not delay the onset of WD; (ii) no association between ApoE genotype and WD clinical presentation in Chinese Han children, including those patients homozygous for R778L. 16310588

2005

dbSNP: rs28942074
rs28942074
0.900 GeneticVariation UNIPROT Molecular characterization of wilson disease in the Sardinian population--evidence of a founder effect. 10502776

1999

dbSNP: rs28942074
rs28942074
0.900 GeneticVariation BEFREE The result shows that Arg778Leu homozygotes are associated with the early onset of WD with hepatic presentation. 11405812

2001

dbSNP: rs28942074
rs28942074
0.900 GeneticVariation BEFREE Genetic analysis was subsequently conducted, and the results revealed the p. (Arg778Leu) mutation in 1 allele and the p. (Asn1270Ser) mutation in the other allele of the ATP7B gene, confirming the diagnosis of WD; the p. (D456fs) mutation in 1 allele and the p. (R299H) mutation in the other allele of the TYR gene, confirming the diagnosis of OCA. 30558096

2018

dbSNP: rs28942074
rs28942074
0.900 GeneticVariation BEFREE The p.L770L/p.R778L status in 660 subjects was determined to estimate WD prevalence. 18034201

2008

dbSNP: rs28942074
rs28942074
0.900 GeneticVariation UNIPROT Mutation analysis of the ATP7B gene and genotype/phenotype correlation in 227 patients with Wilson disease. 15967699

2006

dbSNP: rs28942074
rs28942074
0.900 GeneticVariation BEFREE In this study, we generated ATP7B site-directed point mutation rabbits to simulate a major mutation type in Asians (p. Arg778Leu) with Wilson disease (WD) by using the CRISPR/Cas9 system combined with single-strand DNA oligonucleotides (ssODNs). 29358698

2018

dbSNP: rs28942074
rs28942074
0.900 GeneticVariation BEFREE More than 200 mutations of Wilson disease gene were found, the most common ones being H1069Q (in Europe) and R778L (in Asia). 15554419

2004

dbSNP: rs28942074
rs28942074
0.900 GeneticVariation UNIPROT New novel mutation of the ATP7B gene in a family with Wilson disease. 22075048

2012

dbSNP: rs28942074
rs28942074
0.900 GeneticVariation BEFREE WND variant protein Arg778Leu, which has defective function in yeast, was extensively mislocalized, presumably to the endoplasmic reticulum. 10942420

2000

dbSNP: rs28942074
rs28942074
0.900 GeneticVariation BEFREE However, the clinical manifestations of WD did not differ significantly in patients with the Arg778Leu and Pro992Leu mutations. 27706781

2016