MRPL3 variants in ExAC

MRPL3 gene summary
MRPL3 variants in

The table below lists the MRPL3 variants found in the ExAC population database. Click on each variant for more details, including presence in the 1000 Genomes and Exome Sequencing Project databases, a breakdown by ethnic class and the variant's role in inherited cardiac disease. Use the form below to customise the variant selection. The table can be sorted by variant location, variant type or ExAC frequency.




No. Genomic coord.✝ Variant (CDS)▼ Variant (Protein) Variant Type▼ ExAC frequency▼Populations*
1. 131188574 c.782T>C p.M261T missense 0.01523663●●●●●●
2. 131220371 c.277+4A>C splice site 0.00820622●●●●●●
3. 131181683 c.931G>A p.G311S missense 0.00376978●●●●●●
4. 131220428 c.224G>A p.S75N missense 0.00160615●●●●●●
5. 131186967 c.862T>C p.S288P missense 0.00041339●●●●●●
6. 131181581 c.1033A>G p.I345V missense 0.00035548●●●●●●
7. 131220504 c.148G>T p.D50Y missense 0.00035421●●●●●●
8. 131186928 c.894+7A>G splice site 0.00032330●●●●●●
9. 131208887 c.506G>T p.G169V missense 0.00024281●●●●●●
10. 131190061 c.692A>G p.H231R missense 0.00023938●●●●●●
11. 131181629 c.985C>T p.P329S missense 0.00019810●●●●●●
12. 131220419 c.233G>C p.C78S missense 0.00018122●●●●●●
13. 131187010 c.819G>T p.V273V splice site 0.00015732●●●●●●
14. 131206557 c.596G>A p.R199H missense 0.00011559●●●●●●
15. 131221583 c.83C>T p.P28L missense 0.00011006●●●●●●
16. 131217024 c.467G>A p.R156H missense 0.00010752●●●●●●
17. 131190065 c.688A>G p.T230A missense 0.00009905●●●●●●
18. 131219344 c.299T>C p.I100T missense 0.00008252●●●●●●
19. 131208881 c.512C>T p.P171L missense 0.00007538●●●●●●
20. 131217093 c.398C>T p.T133M missense 0.00007432●●●●●●
21. 131208896 c.497G>A p.R166Q missense 0.00006708●●●●●●
22. 131186966 c.863C>A p.S288Y missense 0.00006614●●●●●●
23. 131181605 c.1009G>A p.V337M missense 0.00006604●●●●●●
24. 131206542 c.611T>G p.V204G missense 0.00006603●●●●●●
25. 131181712 c.902A>G p.D301G missense 0.00005807●●●●●●
26. 131220386 c.266delC p.Pro89LeufsTer14 frameshift 0.00005775●●●●●●
27. 131221632 c.34G>A p.A12T missense 0.00005194●●●●●●
28. 131208897 c.496C>T p.R166W missense 0.00005031●●●●●●
29. 131188550 c.806A>G p.Y269C missense 0.00004978●●●●●●
30. 131220550 c.102C>G p.I34M missense 0.00004964●●●●●●
31. 131220395 c.257C>T p.P86L missense 0.00004946●●●●●●
32. 131208878 c.515C>T p.P172L missense 0.00004189●●●●●●
33. 131217121 c.370G>A p.V124I missense 0.00004174●●●●●●
34. 131206558 c.595C>T p.R199C missense 0.00004128●●●●●●
35. 131219329 c.314G>A p.G105D missense 0.00004122●●●●●●
36. 131208852 c.541A>G p.I181V missense 0.00003412●●●●●●
37. 131188573 c.783G>A p.M261I missense 0.00003315●●●●●●
38. 131187005 c.824G>A p.R275K missense 0.00003310●●●●●●
39. 131217096 c.395A>G p.Y132C missense 0.00003303●●●●●●
40. 131217081 c.410A>G p.N137S missense 0.00003302●●●●●●
41. 131219293 c.350A>G p.H117R missense 0.00003297●●●●●●
42. 131188600 c.756G>T p.W252C missense 0.00002491●●●●●●
43. 131186948 c.881A>G p.N294S missense 0.00002482●●●●●●
44. 131181674 c.940C>A p.L314I missense 0.00002479●●●●●●
45. 131220546 c.106C>T p.L36F missense 0.00002478●●●●●●
46. 131181663 c.951_952insGATGG p.Thr318AspfsTer46 frameshift 0.00002478●●●●●●
47. 131206533 c.620C>T p.T207I missense 0.00002477●●●●●●
48. 131181593 c.1021G>A p.G341S missense 0.00002477●●●●●●
49. 131206546 c.607T>C p.Y203H missense 0.00002477●●●●●●
50. 131190064 c.689C>T p.T230M missense 0.00002476●●●●●●
51. 131221656 c.10T>G p.W4G missense 0.00001812●●●●●●
52. 131221656 c.10T>A p.W4R missense 0.00001812●●●●●●
53. 131208834 c.559A>G p.I187V missense 0.00001783●●●●●●
54. 131221605 c.61G>C p.G21R missense 0.00001694●●●●●●
55. 131221586 c.80G>C p.G27A missense 0.00001692●●●●●●
56. 131221593 c.73G>T p.A25S missense 0.00001691●●●●●●
57. 131217119 c.372A>G splice site 0.00001665●●●●●●
58. 131188554 c.802G>C p.E268Q missense 0.00001659●●●●●●
59. 131188566 c.790A>T p.I264L missense 0.00001658●●●●●●
60. 131219367 c.278-2A>G essential splice site 0.00001657●●●●●●
61. 131217024 c.467G>T p.R156L missense 0.00001654●●●●●●
62. 131217025 c.466C>T p.R156C missense 0.00001654●●●●●●
63. 131181676 c.938A>C p.N313T missense 0.00001653●●●●●●
64. 131186978 c.851A>G p.Y284C missense 0.00001653●●●●●●
65. 131206563 c.590A>G p.H197R missense 0.00001651●●●●●●
66. 131206540 c.613G>T p.D205Y missense 0.00001651●●●●●●
67. 131190054 c.699A>T p.Q233H missense 0.00001651●●●●●●
68. 131217065 c.426G>A p.M142I missense 0.00001651●●●●●●
69. 131190071 c.682C>T p.P228S missense 0.00001651●●●●●●
70. 131220383 c.269G>C p.W90S missense 0.00001650●●●●●●
71. 131220531 c.121C>A p.L41I missense 0.00001650●●●●●●
72. 131220438 c.214C>T p.Q72X nonsense 0.00001647●●●●●●
73. 131208821 c.568+4A>G splice site 0.00000955●●●●●●
74. 131221661 c.5C>G p.P2R missense 0.00000926●●●●●●
75. 131221661 c.5C>T p.P2L missense 0.00000926●●●●●●
76. 131221659 c.7G>A p.G3S missense 0.00000915●●●●●●
77. 131208837 c.556G>A p.A186T missense 0.00000882●●●●●●
78. 131208839 c.554C>T p.A185V missense 0.00000876●●●●●●
79. 131208844 c.549T>G p.D183E missense 0.00000866●●●●●●
80. 131221571 c.92+3A>G splice site 0.00000853●●●●●●
81. 131221574 c.92G>A p.R31K missense 0.00000851●●●●●●
82. 131221614 c.52C>T p.L18F missense 0.00000850●●●●●●
83. 131221606 c.60C>A p.D20E missense 0.00000848●●●●●●
84. 131221598 c.68G>C p.G23A missense 0.00000847●●●●●●
85. 131208912 c.481A>G p.I161V missense 0.00000845●●●●●●
86. 131208911 c.482T>C p.I161T missense 0.00000844●●●●●●
87. 131208870 c.523_526delACAG p.Thr175LeufsTer6 frameshift 0.00000842●●●●●●
88. 131208899 c.494A>G p.Y165C missense 0.00000839●●●●●●
89. 131208900 c.493T>A p.Y165N missense 0.00000839●●●●●●
90. 131217125 c.370-4T>G splice site 0.00000837●●●●●●
91. 131188623 c.739-6A>G splice site 0.00000835●●●●●●
92. 131217122 c.370-1G>T essential splice site 0.00000835●●●●●●
93. 131220561 c.93-2A>C essential splice site 0.00000833●●●●●●
94. 131188617 c.739G>A p.D247N missense 0.00000833●●●●●●
95. 131220558 c.94A>T p.T32S missense 0.00000832●●●●●●
96. 131181724 c.895-5C>T splice site 0.00000832●●●●●●
97. 131188612 c.744delT p.Ile248MetfsTer24 frameshift 0.00000832●●●●●●
98. 131181722 c.895-3C>T splice site 0.00000832●●●●●●
99. 131220557 c.95C>T p.T32I missense 0.00000832●●●●●●
100. 131181723 c.895-4T>C splice site 0.00000832●●●●●●
101. 131181719 c.895G>A p.V299I missense 0.00000831●●●●●●
102. 131188544 c.812T>G p.L271R missense 0.00000831●●●●●●
103. 131188547 c.809_813delGACTG p.Gly270GlufsTer22 frameshift 0.00000831●●●●●●
104. 131181721 c.895-2A>T essential splice site 0.00000831●●●●●●
105. 131181721 c.895-2A>G essential splice site 0.00000831●●●●●●
106. 131188547 c.809G>A p.G270E missense 0.00000830●●●●●●
107. 131219372 c.278-7T>C splice site 0.00000830●●●●●●
108. 131188559 c.797G>A p.R266K missense 0.00000829●●●●●●
109. 131188592 c.764C>T p.T255I missense 0.00000829●●●●●●
110. 131181568 c.1046A>G nonsense 0.00000829●●●●●●
111. 131220553 c.99C>A p.H33Q missense 0.00000829●●●●●●
112. 131219369 c.278-4C>T splice site 0.00000829●●●●●●
113. 131188572 c.784G>A p.G262R missense 0.00000829●●●●●●
114. 131181710 c.904T>A p.S302T missense 0.00000829●●●●●●
115. 131188557 c.799A>G p.T267A missense 0.00000829●●●●●●
116. 131188584 c.772C>A p.P258T missense 0.00000829●●●●●●
117. 131187014 c.817-2_816delAG essential splice site 0.00000828●●●●●●
118. 131206590 c.569-6A>G splice site 0.00000828●●●●●●
119. 131181701 c.913C>T p.P305S missense 0.00000828●●●●●●
120. 131217112 c.379dupT p.Cys127LeufsTer13 frameshift 0.00000828●●●●●●
121. 131186945 c.884G>C p.C295S missense 0.00000828●●●●●●
122. 131187012 c.817G>A essential splice site 0.00000828●●●●●●
123. 131190125 c.630-2A>G essential splice site 0.00000827●●●●●●
124. 131181581 c.1033A>T p.I345F missense 0.00000827●●●●●●
125. 131190019 c.734C>G p.T245S missense 0.00000827●●●●●●
126. 131181680 c.934A>C p.K312Q missense 0.00000827●●●●●●
127. 131186982 c.847A>G p.I283V missense 0.00000827●●●●●●
128. 131186983 c.846A>G p.I282M missense 0.00000827●●●●●●
129. 131186966 c.863C>G p.S288C missense 0.00000827●●●●●●
130. 131187001 c.828A>G p.I276M missense 0.00000827●●●●●●
131. 131217031 c.460C>T p.R154C missense 0.00000827●●●●●●
132. 131186977 c.852T>A p.Y284X nonsense 0.00000827●●●●●●
133. 131190016 c.737G>T p.G246V missense 0.00000827●●●●●●
134. 131181595 c.1019C>T p.P340L missense 0.00000826●●●●●●
135. 131190054 c.699A>C p.Q233H missense 0.00000826●●●●●●
136. 131217088 c.403A>G p.K135E missense 0.00000826●●●●●●
137. 131206525 c.628A>G p.T210A missense 0.00000826●●●●●●
138. 131206549 c.604C>T p.Q202X nonsense 0.00000826●●●●●●
139. 131206523 c.629+1G>C essential splice site 0.00000826●●●●●●
140. 131217054 c.437C>G p.S146C missense 0.00000826●●●●●●
141. 131181662 c.952A>G p.T318A missense 0.00000826●●●●●●
142. 131181589 c.1025C>G p.A342G missense 0.00000826●●●●●●
143. 131190088 c.665G>A p.W222X nonsense 0.00000826●●●●●●
144. 131190035 c.718C>T p.P240S missense 0.00000826●●●●●●
145. 131217055 c.436T>C p.S146P missense 0.00000826●●●●●●
146. 131217093 c.398C>A p.T133K missense 0.00000826●●●●●●
147. 131181593 c.1021G>T p.G341C missense 0.00000826●●●●●●
148. 131190092 c.661A>G p.R221G missense 0.00000826●●●●●●
149. 131206558 c.595C>G p.R199G missense 0.00000826●●●●●●
150. 131206518 c.629+6T>A splice site 0.00000826●●●●●●
151. 131219350 c.293G>T p.G98V missense 0.00000826●●●●●●
152. 131181616 c.998A>G p.Y333C missense 0.00000825●●●●●●
153. 131217066 c.425T>A p.M142K missense 0.00000825●●●●●●
154. 131190085 c.668G>C p.G223A missense 0.00000825●●●●●●
155. 131219338 c.305T>G p.L102W missense 0.00000825●●●●●●
156. 131219270 c.369+4A>G splice site 0.00000825●●●●●●
157. 131217075 c.416A>G p.N139S missense 0.00000825●●●●●●
158. 131219272 c.369+2T>G essential splice site 0.00000825●●●●●●
159. 131181622 c.992dupA p.Asp331GlufsTer4 frameshift 0.00000825●●●●●●
160. 131220537 c.115dupA p.Arg39LysfsTer13 frameshift 0.00000825●●●●●●
161. 131219274 c.369G>C p.Q123H missense 0.00000825●●●●●●
162. 131220431 c.221C>G p.A74G missense 0.00000824●●●●●●
163. 131220431 c.221C>T p.A74V missense 0.00000824●●●●●●
164. 131220515 c.137G>C p.G46A missense 0.00000824●●●●●●
165. 131219315 c.328T>C p.W110R missense 0.00000824●●●●●●
166. 131220395 c.257C>G p.P86R missense 0.00000824●●●●●●
167. 131220518 c.134G>A p.S45N missense 0.00000824●●●●●●
168. 131220481 c.171T>G p.N57K missense 0.00000824●●●●●●
169. 131219316 c.327A>T p.L109F missense 0.00000824●●●●●●
170. 131220470 c.182T>C p.I61T missense 0.00000824●●●●●●
171. 131220404 c.248A>G p.E83G missense 0.00000824●●●●●●
172. 131220482 c.170delA p.Asn57MetfsTer17 frameshift 0.00000824●●●●●●
173. 131219327 c.316A>T p.M106L missense 0.00000824●●●●●●
174. 131220497 c.155A>G p.H52R missense 0.00000824●●●●●●
175. 131220410 c.242A>G p.K81R missense 0.00000824●●●●●●

* This highlights the relative frequency of the variant in the ExAC populations - Non-Finnish European, African, East Asian, South Asian, American and Finnish. Higher frequencies are denoted by darker shades of green, variants absent in a population are coloured light gray.

✝ Genomic coordinates refer to the GRCh37 release of the human genome.