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All inquiries, additions to the list, and comments should be made to Bill Copeland.
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Amino Acid Substitution: E1143G
cDNA Position: 3428 a→g (exon 21)
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| Disease | Genetics | Frequency | Reference |
| Neutral polymorphism | Neutral polymorphism but may modulate disease mutations | SNP at 3.7% of 450 individuals of European descent. Not found in Asian or African populations | (GeneSNPs, 2004) PubMed |
| PEO | Found as a heterozygous mutation | Di Fonzo 2003: Not found in 100 DNA samples from healthy Italians | (Di Fonzo et al., 2003) PubMed |
| Ataxia | Found as a homozygous and heterozygous mutation, or in compound w/ W748S all within the same family | (Van Goethem et al., 2004) PubMed |
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| Alpers | found in compound with W748S and Y1210fs1216X, | (Ferrari et al., 2005) PubMed |
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| Neutral polymorphism but may modulate disease mutations | Found in cis w/ A889T | (Hisama et al., 2005) PubMed |
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| Ataxia | Found as a homozygous mutation w/ W748S | Carrier frequency in the general Finnish population of 1:125 from 500 control chromosomes | (Hakonen et al., 2005) PubMed |
| Alpers | Found in trans w/G848S and in cis w/E1143G in 4 children w/ hepatocerebral disorders and mtDNA depletion | Present in 3-5% of the control population | (Davidzon et al., 2005) PubMed |
| Alpers | Found in ataxia-neuropathy in cis with W748S and in compound with G848S or A467T. | (Nguyen et al., 2005) PubMed |
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| Ataxia | Found in compound w/ Q497H and W748S | frequency of 0.03 | (Winterthun et al., 2005) PubMed |
| Ataxia-neuropathy spectrum disorders | Studied the biochemical effects of E1143G in cis with other pathogenic mutations, and how it can modulate the effects of these mutations | (Chan et al., 2006) PubMed |
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| Liver failure, Neuropathy, and PEO | Found in trans w/ A467T/T885S and in cis w/ Q789H in an 2.5 y.o. old male with liver failure. Also found in trans w/A467T in a 15 y.o. male w/ PEO. Found in trans w/ S433C in a 25 y.o. male w/PEO. Found in cis w/ L965X and in trans w/ R627Q/Q1236H in | Not found in 250 control individuals | (Horvath et al., 2006) PubMed |
| Encephalopathy | Found in compound w/ W748S, A467T R323H, and M1163R in children w/ progressive encephalopathy | Not found in 200 control alleles | (Kollberg et al., 2006) PubMed |
| Alpers | Found in compound w/ W748S and nt2842_2843insA in children w/ multiple complex deficiencies | Sarzi, et al. 2007 reported 2% (n=50) of patients with multiple respiratory chain deficiency with a 35% decrease of mtDNA were found with the mutation W748S with E1143G. | (Sarzi, et al. 2007) PubMed |
| Alpers with valproate-induced hepatic failure | Found in cis w/ T885S and A467T, and in trans w/ Q879H | (McFarland et al., 2008) PubMed |
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| Alpers, Ataxia Neuropathy, and arPEO+ Myocerbrohepatopathy (MCHS) | Found in trans w/ G848S, and in cis w/Q497H-W748S. Also found in trans w/ A467T, and in cis w/ Q497H-W748S. Also in cis w/ E1143 and in trans w/ G737R in MCHS. | (Wong et al., 2008) PubMed |
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| PEO and Ataxia | Found in cis w/ G746S and in trans w/ G848S. In a 2nd pt., found in cis w/W748S and in trans w/ G11D and R852C. | (Stewart et al., 2009) PubMed |
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| mtDNA depletion | In cis w/ W748S and in trans w/ H1110Y+Q1236H | (Taanman et al., 2008) PubMed |
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| Alpers | In cis w/W748S and in trans w/G848S | (Taanman et al., 2008) PubMed |
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| Alpers | Found in cis w/ Q497H and W748S, and in trans w/ G848S. | Found in one child with a normal brain MRI. | (Brunetti-Pierri et al., 2008) PubMed |
| Lipodystrophy | Increase susceptibility of HIV pt. treated w/D4T to develop lipodystrophy | (Chiappini, et al., 2009) PubMed |
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| PEO, ptosis, polyneuropathy, ataxia, and dysarthria | Found in compound w/ A467T and W748S | <0.5% in Dutch population | (Blok and van den Bosch et al., 2009) PubMed |
| Epilepsy and myoclonic | ar, found w/ A467T | <0.5% in Dutch population | (Blok and van den Bosch et al., 2009) PubMed |
| Reference # rs2307441 | PubMed |
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| SANDO | Found in trans with A467T and in cis with W748S. Sensory ataxia, dysarthria, and opthalmoplegia. | (Posada et al., 2010) PubMed |
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| Alpers | Found in cis with W748S and in trans with R807C in a 1y.o. with epilepsy and encephalopathy | 7 of 136 mitochondrial disease Finnish children, and screened against 370 control DNA samples | (Isohanni et al., 2011) PubMed |
| Alpers | Found in cis with Q497H and W748S, and in trans with A467T in a 6 y.o. with epilepsy and encephalopathy | 7 of 136 mitochondrial disease Finnish children, and screened against 370 control DNA samples | (Isohanni et al., 2011) PubMed |
| Alpers | Found in cis with W748S and in trans with G8484S in a 11 mo. old with epilepsy and encephalopathy | 7 of 136 mitochondrial disease Finnish children, and screened against 370 control DNA samples | (Isohanni et al., 2011) PubMed |
| Alpers | Found in cis with W748S and in trans with T914P in a 2.5 y.o. with epilepsy and encephalopathy | 7 of 136 mitochondrial disease Finnish children, and screened against 370 control DNA samples | (Isohanni et al., 2011) PubMed |
| VPA-induced liver toxicity | Found in 2 patients ages 26 and 33 with VPA-induced hepatotoxicity as a heterozygous mutation | A frequency 1.9x10e-4 out of 968 alleles of ethnically matched population controls | (Stewart et al., 2010) PubMed |
| Alpers | Found w/R232H and W748S in a pediatric patient w/mitochondrial encephalomyopathy, seizures, ataxia, and ophthalmological involvement | (Sofou et al., 2012) PubMed |
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| Alpers | Found w/M1163R and W748S in a pediatric patient w/mitochondrial encephalomyopathy, seizures, ataxia, and ophthalmological involvement | (Sofou et al., 2012) PubMed |
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| MIRAS | Mother and son were homozygous for W748S in cis with E1143, and the unaffected father was heterozygous for W748S in cis with E1143G. Both mother and son had decreased mtDNA and spinocerebellar ataxias with presentation in late 30's and early 40's. | Frequencies in Europe for W748S+E1143G or A467T range from 0.6% in Belgium, 0.8% in Finland, and 2% in Finland | (Palin et al., 2012) PubMed |
| Alpers | Found w/W748S in a 16 mo. boy with epilepsy, mtDNA depletion, and noted defects of the respiratory chain complexes I,II, and IV. | (de Camaret et al., 2014) PubMed |
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| PEO | Found in compound w/A143V and W748S in a 40 y.o. female patient w/ chronic intestinal pseudo-obstruction, PEO, and ataxia. | In 5 out of 80 patients w/ chronic intestinal pseudo-obstruction | (Amiot et al., 2009) PubMed |
| Inclusion body myositis | Found as a heterozygous mutation in a Swedish patient with Inclusion body myostitis. In addition the patient had COX deficient muscle fibers, ragged red fibers, and mtDNA deletions. | 1 in 26 patients with inclusion body myositis. 8 of which had heterozygous POLG mutations. | (Lindgen et al., 2015) PubMed |
| SCAE | Found in trans wW748S on both allels in a 22 y.o. with cerebellar ataxia, seizures, deafness, migraines, and dystonia | (Bereau et al., 2016) PubMed |
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| SCAE | Found in trans with A467T and in cis W748S in a 36 y.o. with PEO, ataxia, sensory neuropathy, seizures, and migraines. | (Bereau et al., 2016) PubMed |
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| SANDO | Found in cis w/W748S and in trans w/R627Q and Q1236H in a 38 y.o. with sensory neuropathy, ataxia, PEO, and cognitive impairment. | (Bereau et al., 2016) PubMed |
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| SANDO | Found in trans w/R627Q and Q1236H and in cis w/W748S in a 47 y.o. with sensory neuropathy, ataxia, Ophthalmoparesis and muscle weakness. | (Bereau et al., 2016) PubMed |
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| Epilepsy | Heterozygous or homozygous or in trans with Q1236H. No significant risk factors for VHT or pancreatic toxicity. | 4.1% in the general European population, 2.8% in the Finnish population and 2.9% in the North American population. However, only a low number or no carriers are found in African, Asian, and Latino populations. | (Hynynen et al., 2018) PubMed |
| PEO | Found as heterozygous in cis with V1177L with PEO, intolerance to exercise with muscular weakness, and psychiatric problems. | (Blazquez-Bermejo et al., 2019) PubMed |
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