Table 1.
Information of ATP7B mutations and prediction of the functional effects of the mutations
| NT change | Location | Functional Region | AA change | Polyphen-2 | Mutation Type | Patient count | Patient Freq % | Allele count | Allele Freq % | Novelty | |
|---|---|---|---|---|---|---|---|---|---|---|---|
|
| |||||||||||
| Prediction | Score | ||||||||||
| c.121A>G | Exon 1 15021707309 | p.Asn41Asp | BENIGN | 0.008 | Missense | 1 | 1.47 | 1 | 0.74 | Novel | |
| c.748G>A | Exon 2 | p.Gly250Arg | BENIGN | 0.002 | Missense | 1 | 1.47 | 1 | 0.74 | Novel | |
| c.898_902 delAAGTA | Exon 2 | MBD3 | p.Lys300Ter | NA | NA | Nonsense | 1 | 1.47 | 1 | 0.74 | Novel |
| EX2 DEL | Exon 2 | NA | NA | Deletion | 2 | 2.94 | 2 | 1.47 | Novel | ||
| c.1708-1G>C | Intron 4 | NA | NA | Splicing | 2 | 2.94 | 2 | 1.47 | Novel | ||
| c.1745_1746 delTA | Exon 5 | MBD6 | NA | NA | Deletion | 1 | 1.47 | 1 | 0.74 | Novel | |
| c.1994T>G | Exon 7 | TMS1 | p.Met665Arg | PROBABLY DAMAGING | 0.995 | Missense | 1 | 1.47 | 1 | 0.74 | Novel |
| c.2012_2013 insATAT | Exon 7 | TMS1 | NA | NA | Insertion | 1 | 1.47 | 1 | 0.74 | Novel | |
| c.2128G>A | Exon 8 | TMS2 | p.Gly710Ser | PROBABLY DAMAGING | 1.000 | Missense | 1 | 1.47 | 1 | 0.74 | |
| c.2231C>T | Exon 8 | TMS3 | p.Ser744Phe | PROBABLY DAMAGING | 1.000 | Missense | 1 | 1.47 | 1 | 0.74 | |
| c.2304_2305 insC | Exon 8 | TMS4 | NA | NA | Insertion | 4 | 5.88 | 4 | 2.94 | Novel | |
| c.2308C>T | Exon 8 | TMS4 | p.Leu770Phe | PROBABLY DAMAGING | 1.000 | Missense | 1 | 1.47 | 1 | 0.74 | Novel |
| c.2310C>G | Exon 8 | TMS4 | p.Leu770Leu | NA | NA | Synonymous | 24 | 35.29 | 28 | 20.59 | |
| c.2333G>T | Exon 8 | TMS4 | p.Arg778Leu | PROBABLY DAMAGING | 1.000 | Missense | 31 | 45.59 | 35 | 25.74 | |
| c.2506G>A | Exon 10 | ATPase | p.Gly836Arg | PROBABLY DAMAGING | 1.000 | Missense | 1 | 1.47 | 1 | 0.74 | Novel |
| c.2549C>T | Exon 10 | ATPase | p.Thr850Ile | BENIGN | 0.037 | Missense | 1 | 1.47 | 1 | 0.74 | |
| c.2561A>G | Exon 10 | ATPase | p.Glu854Gly | PROBABLY DAMAGING | 1.000 | Missense | 1 | 1.47 | 1 | 0.74 | Novel |
| c.2593_2594 insGTCA | Exon 11 | ATPase | NA | NA | Insertion | 1 | 1.47 | 1 | 0.74 | Novel | |
| c.2605G>A | Exon 11 | ATPase | p.Gly869Arg | PROBABLY DAMAGING | 1.000 | Missense | 1 | 1.47 | 1 | 0.74 | |
| c.2620G>C | Exon 11 | ATPase | p.Ala874Pro | PROBABLY DAMAGING | 1.000 | Missense | 1 | 1.47 | 2 | 1.47 | |
| c.2621C>T | Exon 11 | ATPase | p.Ala874Val | PROBABLY DAMAGING | 1.000 | Missense | 6 | 8.82 | 6 | 4.41 | |
| c.2662A>C | Exon 11 | ATPase | p.Thr888Pro | PROBABLY DAMAGING | 0.998 | Missense | 3 | 4.41 | 3 | 2.21 | |
| c.2755C>G | Exon 12 | ATPase | p.Arg919Gly | POSSIBLY DAMAGING | 0.832 | Missense | 3 | 4.41 | 3 | 2.21 | |
| c.2804C>T | Exon 12 | TMS5 | p.Thr935Met | PROBABLY DAMAGING | 1.000 | Missense | 1 | 1.47 | 1 | 0.74 | |
| c.2828G>A | Exon 12 | p.Gly943Asp | PROBABLY DAMAGING | 1.000 | Missense | 1 | 1.47 | 1 | 0.74 | ||
| c.2924C>A | Exon 13 | TMS6 | p.Ser975Tyr | PROBABLY DAMAGING | 1.000 | Missense | 1 | 1.47 | 1 | 0.74 | |
| c.2975C>T | Exon 13 | TMS6 | p.Pro992Leu | PROBABLY DAMAGING | 1.000 | Missense | 10 | 14.71 | 11 | 8.09 | |
| c.3007G>A | Exon 13 | ATPase | p.Ala1003Thr | PROBABLY DAMAGING | 1.000 | Missense | 1 | 1.47 | 1 | 0.74 | |
| c.3056A>C | Exon 13 | p.His1019Pro | PROBABLY DAMAGING | 1.000 | Missense | 1 | 1.47 | 1 | 0.74 | Novel | |
| c.3061-3C>A | Intron 13 | NA | NA | Splicing | 1 | 1.47 | 1 | 0.74 | Novel | ||
| c.3140A>T | Exon 14 | p.Asp1047Val | POSSIBLY DAMAGING | 0.927 | Missense | 1 | 1.47 | 1 | 0.74 | ||
| c.3316G>A | Exon 15 | p.Val1106Ile | POSSIBLY DAMAGING | 0.863 | Missense | 5 | 7.35 | 5 | 3.68 | ||
| c.3377_3378 delAC | Exon 15 | NA | NA | Deletion | 2 | 2.94 | 2 | 1.47 | Novel | ||
| c.3443T>C | Exon 16 | ATP bind | p.Ile1148Thr | PROBABLY DAMAGING | 0.999 | Missense | 9 | 13.24 | 10 | 7.35 | |
| c.3445G>A | Exon 16 | ATP bind | p.Gly1149Arg | PROBABLY DAMAGING | 1.000 | Missense | 1 | 1.47 | 1 | 0.74 | |
| c.3451C>T | Exon 16 | ATP bind | p.Arg1151Cys | PROBABLY DAMAGING | 1.000 | Missense | 1 | 1.47 | 1 | 0.74 | |
| c.3452G>A | Exon 16 | ATP bind | p.Arg1151His | PROBABLY DAMAGING | 1.000 | Missense | 1 | 1.47 | 1 | 0.74 | |
| c.3584C>T | Exon 17 | HAD | p.Ala1195Val | PROBABLY DAMAGING | 1.000 | Missense | 1 | 1.47 | 1 | 0.74 | Novel |
| c.3677C>T | Exon 17 | HAD | p.Thr1226Ile | PROBABLY DAMAGING | 0.999 | Missense | 1 | 1.47 | 1 | 0.74 | Novel |
| c.3679G>C | Exon 17 | HAD | p.Ala1227Pro | PROBABLY DAMAGING | 1.000 | Missense | 1 | 1.47 | 1 | 0.74 | Novel |
| c.3700delG | Exon 18 | HAD | NA | NA | Deletion | 1 | 1.47 | 1 | 0.74 | Novel | |
| c.3809A>G | Exon 18 | HAD | p.Asn1270Ser | PROBABLY DAMAGING | 1.000 | Missense | 4 | 5.88 | 4 | 2.94 | |
| c.3843_3844 insT | Exon 18 | HAD | NA | NA | Insertion | 1 | 1.47 | 1 | 0.74 | Novel | |
| c.3884C>T | Exon 18 | p.Ala1295Val | PROBABLY DAMAGING | 1.000 | Missense | 1 | 1.47 | 1 | 0.74 | ||
| c.3901_3902 insA | Exon 18 | NA | NA | Insertion | 1 | 1.47 | 1 | 0.74 | Novel | ||
| c.3960G>C | Exon 19 | p.Arg1320Ser | PROBABLY DAMAGING | 1.000 | Missense | 1 | 1.47 | 1 | 0.74 | ||
| c.3982G>A | Exon 19 | TMS7 | p.Ala1328Thr | PROBABLY DAMAGING | 1.000 | Missense | 1 | 1.47 | 1 | 0.74 | |
| c.4114C>T | Exon 20 | p.Gln1372Ter | NA | NA | Nonsense | 1 | 1.47 | 1 | 0.74 | ||
Abbreviations: AA, amino acid; ATPase, copper-(or silver)-translocating P-type ATPase segment; ATP bind, ATP binding segment; HAD, haloacid dehalogenase-like hydrolases segment; MBD, mental-binding domain; NT, nucleotide; TMS, transmembrane segment.