From: Phenotypic and Genetic Characterization of a Cohort of Pediatric Wilson Disease Patients
Mutation | Type of mutation | No. of patients | No. of chromosomes | Form of WD |
---|---|---|---|---|
c.507delA, p.Gly170fs* | deletion/frameshift | 1 | 2 | H (CLD) |
c.1186G > T, p.Glu396X* | Nonsense | 3 | 6 | 2 C (CLD) |
N | ||||
c.330delA, p.Gln110fs* | deletion/frameshift | 2 | 4 | C (CLD) |
c.1646T > C, p.Leu549Pro* | Missense | 1 | 2 | C (CLD) |
c.1707+5G > A, IVS4+5G > A* 1 | Splice | 2 | 4 | 2 C (CLD) |
c.1924G > C, p.Asp642His | Missense | 1 | 2 | H (CLD) |
c.2108G > A, p.Cys703Tyr | Missense | 2 | 4 | H (CLD) |
H (ALF) | ||||
c.2304dupC, p.Met769fs | insertion/frameshift | 1 | 2 | A |
c.2293G > A, p.Asp765Asn | Missense | 1 | 2 | H (CLD) |
c.2532delA, p.Val845fs | deletion/frameshift | 2 | 4 | H (CLD) |
c.2993G > A, p.Gly998Asp* | Missense | 1 | 2 | Combined |
c.2930C > T, p.Thr977Met 1 | Missense | 2 | 4 | H (CLD) |
c.2997dupC, p.Gly1000fs | insertion/frameshift | 1 | 2 | H (ALF) |
c.3207C > A, p.His1069Glu | Missense | 3 | 6 | H (CLD) |
c.3373_3377delAGTCAinsTCT, p.His1126fs* | deletion-insertion/frameshift | 4 | 8 | H (CLD) |
c.3620A > G, p.His1207Arg 1 | Missense | 1 | 2 | A |
c.3904-2A > G, IVS18-2A > G | Splice | 4 | 8 | H (ALF) |
C (CLD) | ||||
H (CLD) | ||||
C (CLD) | ||||
c.3809A > G, p.Asn1270Ser | Missense | 2 | 4 | C (CLD |
c.3818C > T, p.Pro1273Leu | Missense | 3 | 6 | H (CLD) |
c.3731delT, p.Leu1244fs* | deletion/frameshift | 1 | 2 | H (ALF) |
c.3994A > G, p.Asn1332Asp* | Missense | C (CLD) | ||
c.3955C > T, p.Arg1319X | Nonsense | 3 | 6 | H (ALF) H (CLD) |
c.4021G > C, p.Gly1341Arg* | Missense | 2 | 4 | H (CLD) |
c.4022G > A, p.Gly1341Asp | Missense | 1 | 2 | H (CLD) |
c.4301C > T, p.Thr1434Met | Missense | 1 | 2 | C (CLD) |
c.4230G > A, p.Trp1410X* | Nonsense | 1 | 2 | H (CLD) |
c.3734G > T, p.1245L | Missense | 1 | 2 | C (CLD) |
c.3188C > T, p.Ala1063Val | Missense | 1 | 2 | N |
H (CLD) | ||||
c.2049_2053delCCTGGinsTTTC, p.Val683_Leu684delinsVal | deletion-insertion/frameshift | 1 | 2 | H (ALF) |
c.2332C > G, p.Arg778Gly | Missense | 2 | 4 | H (CLD) |
c.2450delA, p.Glu817fs | deletion/frameshift | 1 | 2 | C (CLD) |
IVS20+6T > C | Splice | 1 | 2 | C (CLD) |
c.2231T > C, p.S744P | Missense | 1 | 2 | H (CLD) |