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Scott Williams f361c7df98 Incremental update
2025-03-17 02:05:34 +00:00

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<h1>
Human DNA Polymerase Gamma Mutation Database
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<p>Human DNA polymerase is composed of two subunits, a 140 kDa catalytic subunit encoded by the POLG on chromosome 15q25, and a 55kDa accessory subunit encoded by the POLG2 gene on chromosome 17q23-24.</p>
<p>
A number of mutations have been mapped to the gene for the catalytic subunit of DNA polymerase, POLG, and found to be associated with mitochondrial diseases.
</p>
<p>
This database lists all known mutations in the coding region of the POLG gene and describes the associated disease. This list is maintained by the Mitochondrial DNA Replication Group at NIEHS.
</p>
<p>
The nucleotide changes are numbered from the initiation Methionine codon and are based on the cDNA (accession U60325.1) and gene sequence (accession AF497906.1).
</p>
<p>
All inquiries, additions to the list, and comments should be made to <a href="https://www.niehs.nih.gov//research/atniehs/labs/gisbl/pi/mdnar/">Bill Copeland</a>.
</p>
<p>
<a href="/polg/_assets/documents/2-6-13-POLG-ALIGN_508.pdf" class="pdf">Alignment Document</a>&nbsp;(132 KB)
<br />
<a href="/polg/_assets/documents/POLG-mutation-large_508.pdf" class="pdf">Download larger view.</a>&nbsp;(879 KB)
</p>
<div id="polg-image">
<a href="/polg/_assets/images/POLG_mutation.png" title="Visual overview of the POLG mutations.">
<img src="/polg/_assets/images/POLG-mutation-small.jpg" alt="chart of Mutations in DNA Polymerase" class="hide_for_mobile"/>
</a>
<p>
<em>Visual overview of the POLG mutations.</em>
</p>
</div>
<div class="ui backgroundGray form segment filter-table">
<form action="/polg/index.cfm/main/search" method="post" id="frmMutation" name="frmMutation">
<div class="field">
<label for="mutationSelected">Select a Mutation:</label>
<select class="ui fluid selection dropdown" name="selected_mutations" id="mutationSelected">
<option value="" >- Select Mutation -</option>
<option value="R3P" >R3P</option>
<option value="G11D" >G11D</option>
<option value="P18S" >P18S</option>
<option value="W25X" >W25X</option>
<option value="S28C" >S28C</option>
<option value="R42X" >R42X</option>
<option value="±Gln at aa 43-52" >±Gln at aa 43-52</option>
<option value="Q43R" >Q43R</option>
<option value="Q44X" >Q44X</option>
<option value="Q45R" >Q45R</option>
<option value="Q49E" >Q49E</option>
<option value="Q49X" >Q49X</option>
<option value="Q50X" >Q50X</option>
<option value="Q51X" >Q51X</option>
<option value="Q53X" >Q53X</option>
<option value="Q53Pfs" >Q53Pfs</option>
<option value="Q53-Q55dup" >Q53-Q55dup</option>
<option value="S64L" >S64L</option>
<option value="Q68X" >Q68X</option>
<option value="L79F" >L79F</option>
<option value="L83P" >L83P</option>
<option value="F88L" >F88L</option>
<option value="H110Y" >H110Y</option>
<option value="W113G" >W113G</option>
<option value="P116Q" >P116Q</option>
<option value="D122Y" >D122Y</option>
<option value="D136E" >D136E</option>
<option value="H138P" >H138P</option>
<option value="A143V" >A143V</option>
<option value="P163S" >P163S</option>
<option value="P163L" >P163L</option>
<option value="E183X" >E183X</option>
<option value="R193Q" >R193Q</option>
<option value="A194V" >A194V</option>
<option value="F197S" >F197S</option>
<option value="C224Y" >C224Y</option>
<option value="R227W" >R227W</option>
<option value="R227P" >R227P</option>
<option value="R227Q" >R227Q</option>
<option value="R232G" >R232G</option>
<option value="R232H" >R232H</option>
<option value="W235X" >W235X</option>
<option value="Q238R" >Q238R</option>
<option value="P241L" >P241L</option>
<option value="L244P" >L244P</option>
<option value="T251I" >T251I</option>
<option value="G268A" >G268A</option>
<option value="R275X" >R275X</option>
<option value="R275Q" >R275Q</option>
<option value="H277L" >H277L</option>
<option value="Y282D" >Y282D</option>
<option value="N285H" >N285H</option>
<option value="c. 856-1 g&#x2192;t" >c. 856-1 g&#x2192;t</option>
<option value="R290C" >R290C</option>
<option value="M299L" >M299L</option>
<option value="G303R" >G303R</option>
<option value="" selected="selected"></option>
<option value="L304R" >L304R</option>
<option value="S305R" >S305R</option>
<option value="Q308H" >Q308H</option>
<option value="R309L" >R309L</option>
<option value="R309H" >R309H</option>
<option value="R309C" >R309C</option>
<option value="L311P" >L311P</option>
<option value="W312R" >W312R</option>
<option value="K319E" >K319E</option>
<option value="K321Rfs*48" >K321Rfs*48</option>
<option value="P324S" >P324S</option>
<option value="T326fs61X" >T326fs61X</option>
<option value="T326X" >T326X</option>
<option value="S332X" >S332X</option>
<option value="W347_L356 del" >W347_L356 del</option>
<option value="E358A " >E358A </option>
<option value="R374X" >R374X</option>
<option value="G380D" >G380D</option>
<option value="T381H fs*7" >T381H fs*7</option>
<option value="R386C" >R386C</option>
<option value="R386H" >R386H</option>
<option value="L392V" >L392V</option>
<option value="L392W" >L392W</option>
<option value="L411P" >L411P</option>
<option value="P412L" >P412L</option>
<option value="R417T" >R417T</option>
<option value="Exon 7 deletion" >Exon 7 deletion</option>
<option value="C418R" >C418R</option>
<option value="Q422P" >Q422P</option>
<option value="L424GfsX28" >L424GfsX28</option>
<option value="G426S" >G426S</option>
<option value="L428P" >L428P</option>
<option value="M430L" >M430L</option>
<option value="G431V" >G431V</option>
<option value="S433C" >S433C</option>
<option value="Q449X" >Q449X</option>
<option value="Y452X" >Y452X</option>
<option value="R457Q" >R457Q</option>
<option value="M459I" >M459I</option>
<option value="L463F" >L463F</option>
<option value="M464T" >M464T</option>
<option value="A467T" >A467T</option>
<option value="N468D" >N468D</option>
<option value="c. 1433 +1g&#x2192;a" >c. 1433 +1g&#x2192;a</option>
<option value="Y479X" >Y479X</option>
<option value="W486X" >W486X</option>
<option value="Q497H" >Q497H</option>
<option value="K498T" >K498T</option>
<option value="S511N" >S511N</option>
<option value="K512M" >K512M</option>
<option value="G517V" >G517V</option>
<option value="R546C" >R546C</option>
<option value="R546S" >R546S</option>
<option value="R546G" >R546G</option>
<option value="L559P" >L559P</option>
<option value="K561M" >K561M</option>
<option value="R562Q" >R562Q</option>
<option value="H569Q" >H569Q</option>
<option value="c. 1713-21 T>A" >c. 1713-21 T>A</option>
<option value="R574W" >R574W</option>
<option value="R579W" >R579W</option>
<option value="W585X" >W585X</option>
<option value="P587L" >P587L</option>
<option value="G588X" >G588X</option>
<option value="G588D" >G588D</option>
<option value="G588Pfs13" >G588Pfs13</option>
<option value="P589L" >P589L</option>
<option value="L591F" >L591F</option>
<option value="R597W" >R597W</option>
<option value="R597Q" >R597Q</option>
<option value="T599P" >T599P</option>
<option value="K601E" >K601E</option>
<option value="M603L" >M603L</option>
<option value="L605R" >L605R</option>
<option value="L605P" >L605P</option>
<option value="H613Y" >H613Y</option>
<option value="Y614X" >Y614X</option>
<option value="S615P" >S615P</option>
<option value="R617C" >R617C</option>
<option value="G621R" >G621R</option>
<option value="G621D" >G621D</option>
<option value="L623W" >L623W</option>
<option value="P625R" >P625R</option>
<option value="P625L" >P625L</option>
<option value="R627W" >R627W</option>
<option value="R627Q" >R627Q</option>
<option value="R628Q" >R628Q</option>
<option value="P648R" >P648R</option>
<option value="H659Q" >H659Q</option>
<option value="E662K" >E662K</option>
<option value="Q663fs" >Q663fs</option>
<option value="Q666L" >Q666L</option>
<option value="R709X" >R709X</option>
<option value="Q715X" >Q715X</option>
<option value="c.2157+5_+6gc>ag" >c.2157+5_+6gc>ag</option>
<option value="R722H" >R722H</option>
<option value="H734R" >H734R</option>
<option value="N736S" >N736S</option>
<option value="G737R" >G737R</option>
<option value="N740D" >N740D</option>
<option value="D741N" >D741N</option>
<option value="V742M" >V742M</option>
<option value="G746S" >G746S</option>
<option value="W748C" >W748C</option>
<option value="W748S" >W748S</option>
<option value="F749S" >F749S</option>
<option value="L752P" >L752P</option>
<option value=" H754Q" > H754Q</option>
<option value="K755E" >K755E</option>
<option value="K755T" >K755T</option>
<option value="G763R" >G763R</option>
<option value="P765T" >P765T</option>
<option value="P765L" >P765L</option>
<option value="A767D" >A767D</option>
<option value="K768E" >K768E</option>
<option value="F770L" >F770L</option>
<option value="A781T" >A781T</option>
<option value="G785fs21X" >G785fs21X</option>
<option value="R790H" >R790H</option>
<option value="M797del" >M797del</option>
<option value="M797I" >M797I</option>
<option value="S799A" >S799A</option>
<option value="A804T" >A804T</option>
<option value="R807H" >R807H</option>
<option value="R807P" >R807P</option>
<option value="R807C" >R807C</option>
<option value="Q811R" >Q811R</option>
<option value="V814del" >V814del</option>
<option value="4.7kb deletion of exons 15-21" >4.7kb deletion of exons 15-21</option>
<option value="c. 2480+1g>a" >c. 2480+1g>a</option>
<option value="IVS15-9- c.2485del 12bp" >IVS15-9- c.2485del 12bp</option>
<option value="IVS16-10 c>t" >IVS16-10 c>t</option>
<option value="Y831F" >Y831F</option>
<option value="Y831S" >Y831S</option>
<option value="Y831C" >Y831C</option>
<option value="Y837C" >Y837C</option>
<option value="A847T" >A847T</option>
<option value="G848S" >G848S</option>
<option value="T849X" >T849X</option>
<option value="T851A" >T851A</option>
<option value="R852C" >R852C</option>
<option value="R852H" >R852H</option>
<option value="R853W" >R853W</option>
<option value="R853Q" >R853Q</option>
<option value="V855L" >V855L</option>
<option value="V855A" >V855A</option>
<option value="A862T" >A862T</option>
<option value="N864S" >N864S</option>
<option value="N864I" >N864I</option>
<option value="R869Q" >R869Q</option>
<option value="R869X" >R869X</option>
<option value="E873X" >E873X</option>
<option value="L874M" >L874M</option>
<option value="Q879H" >Q879H</option>
<option value="Q879R" >Q879R</option>
<option value="A880D" >A880D</option>
<option value="P881L" >P881L</option>
<option value="T885S" >T885S</option>
<option value="L886P" >L886P</option>
<option value="G888S" >G888S</option>
<option value="G888D" >G888D</option>
<option value="A889T" >A889T</option>
<option value="A889P" >A889P</option>
<option value="D890A" >D890A</option>
<option value="D892GfsX39" >D892GfsX39</option>
<option value="S893F" >S893F</option>
<option value="E895G" >E895G</option>
<option value="W897X" >W897X</option>
<option value="I898T" >I898T</option>
<option value="F907I" >F907I</option>
<option value="T914A" >T914A</option>
<option value="T914P" >T914P</option>
<option value="W918R" >W918R</option>
<option value="M919T" >M919T</option>
<option value="G923D" >G923D</option>
<option value="G923R" >G923R</option>
<option value="K925R fs42X" >K925R fs42X</option>
<option value="D930N" >D930N</option>
<option value="L931R" >L931R</option>
<option value="H932Y" >H932Y</option>
<option value="S933R" >S933R</option>
<option value="R943C" >R943C</option>
<option value="R943H" >R943H</option>
<option value="H945L" >H945L</option>
<option value="K947R" >K947R</option>
<option value="I948X" >I948X</option>
<option value="Y951N" >Y951N</option>
<option value="R953C" >R953C</option>
<option value="R953P" >R953P</option>
<option value="I954M" >I954M</option>
<option value="Y955C" >Y955C</option>
<option value="Y955H" >Y955H</option>
<option value="A957S" >A957S</option>
<option value="A957P" >A957P</option>
<option value="A957V" >A957V</option>
<option value="F961S" >F961S</option>
<option value="A962T" >A962T</option>
<option value="R964C" >R964C</option>
<option value="L965X" >L965X</option>
<option value="L966R" >L966R</option>
<option value="G975stop" >G975stop</option>
<option value="Y986D" >Y986D</option>
<option value="T989dup(CAA/)" >T989dup(CAA/)</option>
<option value="R993C" >R993C</option>
<option value="W994_E18splice" >W994_E18splice</option>
<option value="S998W" >S998W</option>
<option value="S998L" >S998L</option>
<option value="G1001C" >G1001C</option>
<option value="W1020X" >W1020X</option>
<option value="Q1024X" >Q1024X</option>
<option value="A1033V" >A1033V</option>
<option value="c. 3104 +1g&#x2192;a " >c. 3104 +1g&#x2192;a </option>
<option value="c. 3104 +3a&#x2192;t " >c. 3104 +3a&#x2192;t </option>
<option value="V1044A" >V1044A</option>
<option value="R1047Q" >R1047Q</option>
<option value="R1047W" >R1047W</option>
<option value="K1050fsX44" >K1050fsX44</option>
<option value="G1051R" >G1051R</option>
<option value="G1052R" >G1052R</option>
<option value="G1052S" >G1052S</option>
<option value="G1052D" >G1052D</option>
<option value="G1052del" >G1052del</option>
<option value="N1053fsX6" >N1053fsX6</option>
<option value="E1054fs" >E1054fs</option>
<option value="M1057T" >M1057T</option>
<option value="T1072I" >T1072I</option>
<option value="P1073L" >P1073L</option>
<option value="G1076V" >G1076V</option>
<option value="C1077G" >C1077G</option>
<option value="I1079L" >I1079L</option>
<option value="S1080T" >S1080T</option>
<option value="S1080I" >S1080I</option>
<option value="R1081dup" >R1081dup</option>
<option value="R1081Q" >R1081Q</option>
<option value="R1081P" >R1081P</option>
<option value="c. 3273 +2t&#x2192;c " >c. 3273 +2t&#x2192;c </option>
<option value="F1092L" >F1092L</option>
<option value="S1095R" >S1095R</option>
<option value="S1095G" >S1095G</option>
<option value="R1096C" >R1096C</option>
<option value="R1096G" >R1096G</option>
<option value="R1096H" >R1096H</option>
<option value="N1098K" >N1098K</option>
<option value="N1098I" >N1098I</option>
<option value="H1110Y" >H1110Y</option>
<option value="S1104C" >S1104C</option>
<option value="S1104F" >S1104F</option>
<option value="A1105T" >A1105T</option>
<option value="A1105V" >A1105V</option>
<option value="V1106I" >V1106I</option>
<option value="D1107N" >D1107N</option>
<option value="L1113P" >L1113P</option>
<option value="R1128H" >R1128H</option>
<option value="H1134R" >H1134R</option>
<option value="E1136K" >E1136K</option>
<option value="R1138C" >R1138C</option>
<option value="R1142W" >R1142W</option>
<option value="E1143G" >E1143G</option>
<option value="D1145GfsX9" >D1145GfsX9</option>
<option value="R1146C" >R1146C</option>
<option value="A1152P" >A1152P</option>
<option value="Q1154R" >Q1154R</option>
<option value="N1157S" >N1157S</option>
<option value="c. 3482 +2t&#x2192;c " >c. 3482 +2t&#x2192;c </option>
<option value="c. 3482 +207_c.3532 " >c. 3482 +207_c.3532 </option>
<option value="c.3483-4_3497del" >c.3483-4_3497del</option>
<option value="c.3626_3629dupGATA" >c.3626_3629dupGATA</option>
<option value="M1163R" >M1163R</option>
<option value="F1164I" >F1164I</option>
<option value="F1164L" >F1164L</option>
<option value="L1173fsX" >L1173fsX</option>
<option value="P1174T" >P1174T</option>
<option value="Q1175R" >Q1175R</option>
<option value="S1176L" >S1176L</option>
<option value="V1177L" >V1177L</option>
<option value="D1184L" >D1184L</option>
<option value="D1184N" >D1184N</option>
<option value="I1185T" >I1185T</option>
<option value="I1185N" >I1185N</option>
<option value="R1187W" >R1187W</option>
<option value="C1188R" >C1188R</option>
<option value="K1191N" >K1191N</option>
<option value="K1191R" >K1191R</option>
<option value="D1196N" >D1196N</option>
<option value="T1199X" >T1199X</option>
<option value="c.3600 del T" >c.3600 del T</option>
<option value="G1205A" >G1205A</option>
<option value="E1207K fs*17" >E1207K fs*17</option>
<option value="c.3626_3629dupGATA " >c.3626_3629dupGATA </option>
<option value="Y1210fs1216X" >Y1210fs1216X</option>
<option value="Y1210X" >Y1210X</option>
<option value="Q1214X" >Q1214X</option>
<option value="I1212_G1215 del" >I1212_G1215 del</option>
<option value="c.3643 +1g&#x2192;a" >c.3643 +1g&#x2192;a</option>
<option value="c.3643 +2t&#x2192;c" >c.3643 +2t&#x2192;c</option>
<option value="c.3643 +3g&#x2192;t" >c.3643 +3g&#x2192;t</option>
<option value="A1217P" >A1217P</option>
<option value="S1230F" >S1230F</option>
<option value="Q1236H" >Q1236H</option>
<option value="X1240Q+35a.a." >X1240Q+35a.a.</option>
<option value="X1240Y+35a.a." >X1240Y+35a.a.</option>
<option value="X1240Y" >X1240Y</option>
</select>
</div>
<div class="field">
<label for="mutationText">
Search Mutation List:
</label>
<input type="text" name="mutationText" id="mutationText" value= "" />
</div>
<div class="field">
<label for="selectedexons">Select Exon(s):</label>
<select class="ui fluid selection dropdown multiple" multiple name="selected_exons" id="selectedexons">
<option value="" selected="selected" >- Select Exon -</option>
<option value="2" >exon 2</option>
<option value="3" >exon 3</option>
<option value="4" >exon 4</option>
<option value="5" >exon 5</option>
<option value="6" >exon 6</option>
<option value="7" >exon 7</option>
<option value="8" >exon 8</option>
<option value="9" >exon 9</option>
<option value="10" >exon 10</option>
<option value="11" >exon 11</option>
<option value="12" >exon 12</option>
<option value="13" >exon 13</option>
<option value="14" >exon 14</option>
<option value="15" >exon 15</option>
<option value="16" >exon 16</option>
<option value="17" >exon 17</option>
<option value="18" >exon 18</option>
<option value="19" >exon 19</option>
<option value="20" >exon 20</option>
<option value="21" >exon 21</option>
<option value="22" >exon 22</option>
<option value="23" >exon 23</option>
<option value="34" >exon 34</option>
<option value="1718" >exon 1718</option>
</select>
</div>
<div class="field">
<label for="selecteddomains">Select Domain(s):</label>
<select class="ui fluid selection dropdown multiple" multiple name="selected_domains" id="selecteddomains">
<option value="" selected="selected" >- Select Domain -</option>
<option value="1" >amino acids 1-170 N-terminal domain</option>
<option value="2" >amino acids 1-25 mitochondrial targeting sequence</option>
<option value="3" >amino acids 171-440 exonuclease domain</option>
<option value="4" >amino acids 441-475 N-terminal thumb subdomain</option>
<option value="5" >amino acids 476-785 linker region</option>
<option value="6" >amino acids 476-570 accessory interacting subdomain</option>
<option value="7" >amino acids 571-785 intrinsic processivity subdomain</option>
<option value="8" >amino acids 786-815 C-terminal thumb subdomain</option>
<option value="9" >amino acids 816-1239 polymerase domain</option>
</select>
</div>
<p>To search for multiple exons, hold &lt;Ctrl&gt; while selecting multiple options.</p>
<br />
<div class="fields btnThree">
<input type="submit" value="Submit your request" class="ui submit button">
<input type="reset" value="Clear" class="ui reset button clear-input">
</div>
</form>
</div>
<table>
<col class="disease" />
<col class="genetics" />
<col class="frequency"/>
<col class="reference" />
<tr>
<th colspan="4">
<div><span class="antiBold">Amino Acid Substitution:</span> R3P</div>
<div><span class="antiBold">cDNA Position:</span> 8 g&#x2192;c (exon 2)</div>
</th>
</tr>
<tr>
<th class="darkerHeader">Disease</th>
<th class="darkerHeader">Genetics</th>
<th class="darkerHeader">Frequency</th>
<th class="darkerHeader">Reference</th>
</tr>
<tr>
<td>PEO</td>
<td>ar</td>
<td>(Van Goethem et al., 2001) reported 0 out of 229 control Individuals (<0.4%)</td>
<td>(Van Goethem et al., 2001) <br /> <a href="http://www.ncbi.nlm.nih.gov/pubmed/11431686" target="_pubMedWindow1" id="pubMedLink1">PubMed</a></td>
</tr>
</table>
<table>
<col class="disease" />
<col class="genetics" />
<col class="frequency"/>
<col class="reference" />
<tr>
<th colspan="4">
<div><span class="antiBold">Amino Acid Substitution:</span> G11D</div>
<div><span class="antiBold">cDNA Position:</span> 32 g&#x2192;a (exon 2)</div>
</th>
</tr>
<tr>
<th class="darkerHeader">Disease</th>
<th class="darkerHeader">Genetics</th>
<th class="darkerHeader">Frequency</th>
<th class="darkerHeader">Reference</th>
</tr>
<tr>
<td>Ataxia Neuropathy</td>
<td>Found in cis with R627Q and in trans with R852C, and also found as a Heterozygous mutation with a failure to thrive</td>
<td></td>
<td>(Wong et al., 2008) <br /> <a href="http://www.ncbi.nlm.nih.gov/pubmed/18546365" target="_pubMedWindow2" id="pubMedLink2">PubMed</a></td>
</tr>
<tr>
<td>Alpers</td>
<td>Found in cis w/ R852C and in trans w/ W748S. In a second pt. found in cis w/R852C and in trans w/ A467T.</td>
<td></td>
<td>(Ashley et al., 2008) and a correction in (Ashley et al., 2009) <br /> <a href="http://www.ncbi.nlm.nih.gov/pubmed?term=Ashley%20and%20Smith%20and%20Adams" target="_pubMedWindow3" id="pubMedLink3">PubMed</a></td>
</tr>
<tr>
<td>Alpers</td>
<td>Found in cis w/ R852C and in trans w/ A467T. In a 2nd pt., found in cis w/ R852C and in trans w/ W748S and E1143G</td>
<td></td>
<td>(Stewart et al., 2009) <br /> <a href="http://www.ncbi.nlm.nih.gov/pubmed/19251978" target="_pubMedWindow4" id="pubMedLink4">PubMed</a></td>
</tr>
<tr>
<td>Leigh Syndrome</td>
<td>Found in cis with R852C and in trans with W748S</td>
<td></td>
<td>(Naess et al., 2009) <br /> <a href="http://www.ncbi.nlm.nih.gov/pubmed?term=Naess%20and%20Freyer%202009" target="_pubMedWindow5" id="pubMedLink5">PubMed</a></td>
</tr>
<tr>
<td>Multiple system atrophy</td>
<td>Found with R852C in a 58 y.o. female with progressive cerebellar atrophy. Pt. had mtDNA deletions and mtDNA depletion.</td>
<td></td>
<td>(Mehta et al., 2011) <br /> <a href="http://www.ncbi.nlm.nih.gov/pubmed?term=Mehta%20and%20Tarnoplosky%202011" target="_pubMedWindow6" id="pubMedLink6">PubMed</a></td>
</tr>
<tr>
<td>Seizures and liver failure</td>
<td>Found in trans w/ A467T and in cis w/ R852C in an 8 mo. w/ seizures, liver failure, and lactic acidosis.</td>
<td>Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies. </td>
<td>(Tang et al., 2011) <br /> <a href="http://www.ncbi.nlm.nih.gov/pubmed/21880868" target="_pubMedWindow7" id="pubMedLink7">PubMed</a></td>
</tr>
<tr>
<td>Encephalopathy</td>
<td>Found in cis w/ R852C and in trans w/ R627Q in a 25 y.o. w/ dementia, encephalopathy, and stroke.</td>
<td>Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies. </td>
<td>(Tang et al., 2011) <br /> <a href="http://www.ncbi.nlm.nih.gov/pubmed/21880868" target="_pubMedWindow8" id="pubMedLink8">PubMed</a></td>
</tr>
<tr>
<td>MDS</td>
<td>Found in a large cohort study.</td>
<td></td>
<td>(Hikmat et al., 2020) <br /> <a href="https://onlinelibrary.wiley.com/doi/full/10.1002/jimd.12211" target="_pubMedWindow9" id="pubMedLink9">PubMed</a></td>
</tr>
<tr>
<td>Alpers-Huttenlochers syndrome</td>
<td>Found as homozygous from the multicentric study among 22 children with POLG pathogenic variants in India.</td>
<td>1 out of 22 patients with POLG variants</td>
<td>(Jha et al., 2022) <br /> <a href="https://journals.sagepub.com/doi/10.1177/08830738211067065" target="_pubMedWindow10" id="pubMedLink10">PubMed</a></td>
</tr>
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