Table 1.
List PNPLA1 Mutation known to-date
| Type | Mutation | Affected reported | Origin | Amino acid change | Reference |
|---|---|---|---|---|---|
| Homozygous nonsense | c.892 C>T | 3 | Pakistani | p.Arg298* | This report |
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| Homozygous missense | c.102C>A | 3 | Pakistani | p.Asp34Glu | This report |
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| Homozygous missense | c.102C>A | 15 | Pakistani | p.Asp34Glu | Ahmad et al., 2016 |
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| Homozygous missense | c.387C>A | 8 | Pakistani | p.Asp129Glu | Lee et al., 2016 |
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| Homozygous nonsense | c.391G>T | 3 | Algerian | p.Glu131* | Grall et al., 2012 |
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| Homozygous missense | c.176C>T | 3 | Moroccan | p.Ala59Val | Grall et al., 2012 |
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| Homozygous splice site (intron 5) | c.775+3A>T | Pigg et al., 2016 | |||
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| Homozygous missense | c.100G>A | 1 | Spanish | p.Ala34Thr | Fachal et al., 2014 |
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| Homozygous missense | c.514G>A | 2 | Turkish | p.Asp172Asn | Dökmeci-Emre et al., 2017 |
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| Homozygous missense | c.335C>A | 2 | Turkish | p.Ser112Tyr | Dökmeci-Emre et al., 2017 |
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| Homozygous frameshift | c.733_735delTAC | 3 | Turkish | p.Tyr245del | Dökmeci-Emre et al., 2017 |
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| Homozygous missense | c.56C>T | 4 | Persian | p.Ser19Leu | Vahidnezhad et al., 2017 |
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| Homozygous missense | c.100G>C | 3 | Lurish | p.Ala34Pro | Vahidnezhad et al., 2017 |
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| Homozygous missense | c.374C>A | 1 | Persian | p.Thr125Asn | Vahidnezhad et al., 2017 |
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| Homozygous missense | c.421A>G | 4 | Kurdish | p.Lys141Glu | Vahidnezhad et a. 2017 |
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| Homozygous missense | c.421A>G | 5 | Persian | p.Lys141Glu | Vahidnezhad et al., 2017 |
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| Homozygous missense | c.488C>T | 6 | Arabic | p.Pro163Leu | Vahidnezhad et al., 2017 |
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| Homozygous missense | c.514G>A | 2 | Lurish | p.Asp172Asn | Vahidnezhad et al., 2017 |
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| Homozygous missense | c.514G>A | 1 | Azeri | p.Asp172Asn | Vahidnezhad et al., 2017 |
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| Compound heterozygous missense | c.335C>A c.464C>T | 1 | European | p.Ser112Tyr p.Pro155Leu | Boyden et al., 2017 Boyden et al., 2017 |
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| Compound heterozygous missense | c.92C>A c.464C>T | 2 | European | p.Ala31Asp p.Pro155Leu | Boyden et al., 2017 Boyden et al., 2017 |
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| Compound heterozygous missense | c.92C>A c.464C>T | 2 | European | p.Ala31Asp p.Pro155Leu | Boyden et al., 2017 Boyden et al., 2017 |
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| Compound heterozygous missense | c.100G>A c.418T>C | 1 | Spanish | p.Ala34Thr p.Ser140Pro | Boyden et al., 2017 Boyden et al., 2017 |
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| Homozygous missense | c.418T>C | 1 | Spanish | p.Ser140Pro | Boyden et al., 2017 |
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| Homozygous missense | c.418T>C | 1 | Spanish | p.Ser140Pro | Boyden et al., 2017 |
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| Homozygous missense | c.514G>A | 1 | Afghanistani | p.Asp172Asn | Boyden et al., 2017 |
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| Type | Mutation | Affected reported | Origin | Amino acid change | Reference |
|
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| Compound heterozygous missense | c.418T>C c.448T>C | 1 | Spanish and Italian | p.Ser140Pro p.Cys150Arg | Boyden et al., 2017 Boyden et al., 2017 |
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| Homozygous frameshift | c.1300del.G | 1 | Chinese | p.Ala434fs | Boyden et al., 2017 |
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| Homozygous missense | c.646T>C | 1 | Palestinian | p.Cys216Arg | Boyden et al., 2017 |
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| Homozygous missense | c.646T>C | 1 | Palestinian | p.Cys216Arg | Boyden et al., 2017 |
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| Homozygous missense | c.646T>C | 1 | Palestinian | p.Cys216Arg | Boyden et al., 2017 |
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| Compound heterozygous missense and splice site | c.362A>C c.438+2C>G | 1 | Caucasian and middle Eastern | p.His121Pro p.? | Boyden et al., 2017 Boyden et al., 2017 |
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| Homozygous frameshift | c.1300del.G | 1 | Unknown-adoptedp.Ala434fs | Boyden et al., 2017 | |
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| Compound heterozygous missense and frameshift | c.939G>T c.940-952del. TGGGTTCCCAAAG | 1 | Iranian | p.Glu313Dfs | Boyden et al., 2017 Boyden et al., 2017 |
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| Homozygous missense | c.704C>T | 1 | Turkish | p.Pro235Leu | Boyden et al., 2017 |
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| Homozygous missense | c.421A>G | Persian | p.Lys141Glu | Boyden et al., 2017 | |
|
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| Homozygous missense | c.157T>C | 1 | Hispanic | p.Ser53Pro | Boyden et al., 2017 |
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| Homozygous missense | c.158C>G | 1 | Indian | p.Ser53Trp | Boyden et al., 2017 Zimmer et al., 2017 |
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| Compound heterozygous missense | c.56C>T c.301A>G | 1 | African-Czech | p.Ser19Leu p.Arg101Gly | Zimmer et al., 2017 Zimmer et al., 2017 |
|
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| Compound heterozygous missense and frameshift | c.275delC c.752C>A | 1 | German | p.Pro92Argfs*8 p.Ala251Glu | Zimmer et al., 2017 Zimmer et al., 2017 |
|
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| Homozygous nonsense | c.391G>T | 1 | Algerian | p.Glu131* | Zimmer et al., 2017 |
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| Homozygous splice site | c.775+3A>T | 1 | Swedish | p.? | Zimmer et al., 2017 |
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| Homozygous nonsense | c.535C>T | Unknown | p.Gln179* | Zimmer et al., 2017 | |
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| Compound heterozygous missense | c.88G>A c.418T>C | French | p.Gly30Arg p.Ser140Pro | Zimmer et al., 2017 | |
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| Compound heterozygous missense | c.421A>G c.311T>C | 1 | French | p.Lys141Glu p.Leu104Pro | Zimmer et al., 2017 Zimmer et al., 2017 |
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| Compound heterozygous missense and frame shift | c.1143delC c.514G>A | 1 | Kazakh | p.Ser382Alafs*74 p.Asp172Asn | Zimmer et al., 2017 Zimmer et al., 2017 |
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| Compound heterozygous missense and frame shift | c.121delC c.667G>A | 1 | Unknown | p.Arg41Glyfs*17 p.Glu223Lys | Zimmer et al., 2017 Zimmer et al., 2017 |
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| Compound heterozygous splice site and frame shift | c.275delC c.775+3A>T | 1 | Unknown | p.Pro92Argfs*8 p.? | Zimmer et al., 2017 Zimmer et al., 2017 |
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| Homozygous frame shift | c.704delC | 1 | German | p.Pro235Argfs*4 | Zimmer et al., 2017 |
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| Compound heterozygous missense | c.434T>C c.536A>G | 1 | German? | p.Ile145Thr p.Gln179Arg | Zimmer et al., 2017 Zimmer et al., 2017 |
|
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| Homozygous missense | c.158C>T | 1 | Pakistani | p.Ser53Leu | Zimmer et al., 2017 |
|
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| Type | Mutation | Affected reported | Origin | Amino acid change | Reference |
|
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| Homozygous missense | c.100G>A | 1 | Spanish | p.Ala34Thr | Zimmer et al., 2017 |
|
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| Compound heterozygous missense and frame shift | c.301A>G c.275delC | 1 | Unknown | p.Arg101Gly p.Pro92Argfs*8 | Zimmer et al., 2017 Zimmer et al., 2017 |
|
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| Homozygous missense | c.496C>T | 1 | French | p.Arg166Cys | Zimmer et al., 2017 |
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| Compound heterozygous missense | c.233G>A c.527C>T | 2 | Italian | p.Gly78Asp p.Thr176Met | Diociaiuti et al., 2018 Diociaiuti et al., 2018 |
|
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| Homozygous missense | c.700C>T | 2 | Chinese | p.Pro234Ser | Zhao et al., 2018 |
|
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| Homozygous missense | c.100G>A | 3 | Spanish | p.Ala34Thr | Esperón-Moldes et al., 2019 |
|
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| Heterozygous duplication | c.282dup c.417_418delinsTC | 3 | Spanish Spanish | p.Lys95* p.Ser140Pro | Esperón-Moldes et al., 2019 Esperón-Moldes et al., 2019 |
|
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| Heterozygous missense | c.729C>G c.820del | 1 6 | Spanish Spanish | p.Tyr243* p.Arg274Glyfs*8 | Esperón-Moldes et al., 2019 Esperón-Moldes et al., 2019 |
|
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| Heterozygous nonsense | c.892C>T | 1 | Spanish | p.Arg298* | Esperón-Moldes et al., 2019 |
|
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| Heterozygous frame shift | c.1143del | 1 | Spanish | p.Pro382Alafs*74 | Esperón-Moldes et al., 2019 |