MEN1 Missense Variant Database

  • Reference sequences were NC_000011.9 and NM_130799.2. cDNA number 1 is the "A" of the start codon.
  • Frameshift is documented by the original amino acid followed by the codon number and "fs" (ex. Leu159 fs).
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176 unique missense variants found

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Genomic Position Location Mutation Type Nucleotide Change Protein Change Classification Clinical Features References Clinical Details
1 Exon 2 Missense c.1A>G p.? Pathogenic ** Klein (2005)
2 Exon 2 Missense c.35C>T p.P12L Pathogenic * Familial MEN1 Agarwal (1997)
3 Exon 2 Missense c.65T>G p.L22R Pathogenic * Familial MEN1 Chandrasekharappa (1997)
5 Exon 2 Missense c.76G>A p.E26K Pathogenic ** sporadic HPT Heppner (1997)
10 Exon 2 Missense c.76_78delGAGinsAAA p.E26K Pathogenic MEN1 Ellard (2005)
11 Exon 2 Missense c.95C>G p.P32R Pathogenic ** sporadic HPT Cetani (2000)
12 Exon 2 Indel c.98_104delinsTCC p.C33fs Pathogenic Pomponio (1997)  
13 Exon 2 Missense c.112T>C p.S38P Pathogenic * Tham (2007)
14 Exon 2 Missense c.110T>C p.L37P Pathogenic * sporadic Vipoma Gortz (1999)
15 Exon 2 Missense c.116T>G p.L39W Pathogenic * MEN1 aparently sporadic Poncin (1999)
19 Exon 2 Missense c.124G>A p.G42S Pathogenic sporadic neuroendocrine tumor Toliat (1997)
21 Exon 2 Missense c.125G>A p.G42D Pathogenic * Familial MEN1 Bassett (1998)
23 Exon 2 Missense c.125G>C p.G42A Pathogenic ** MEN1 aparently sporadic Kytola (2001)
24 Exon 2 Missense c.133G>A p.E45K Pathogenic * Tham (2007)
28 Exon 2 Missense c.133G>C p.E45Q Pathogenic MEN1 Ellard (2005)
29 Exon 2 Missense c.134A>C p.E45A Pathogenic MEN1 Ellard (2005)
30 Exon 2 Missense c.134A>G p.E45G Pathogenic ** Familial MEN1 Miyauchi (1998)
33 Exon 2 Missense c.135G>T p.E45D Pathogenic * sporadic HPT Farnebo (1998)
34 Exon 2 Missense n/a p.A49F Pathogenic * Gortz (1999)
35 Exon 2 Missense c.145GC>TT p.A49F Pathogenic *** Familial MEN1 Cebrian (2003)
36 Exon 2 Missense c.146C>A p.A49D Pathogenic sporadic HPT Miedlich (2000)
37 Exon 2 Missense c.154C>G p.R52G Pathogenic * Hou (2011)
38 Exon 2 Missense c.157G>A p.V53I Pathogenic neuroendocrine tumor Gortz (1999)
39 Exon 2 Missense c.256A>T p.I86F Pathogenic ** sporadic gastrinoma Zhuang (1997)
41 Exon 2 Missense c.266T>G p.L89R Pathogenic * sporadic glucagonoma Hessman (1998)
44 Exon 2 Missense c.329G>A p.G110E Pathogenic * Familial MEN1 Jap (2005)
45 Exon 2 Missense c.362T>A p.V121D Pathogenic sporadic HPT Pannett (2001)
46 Exon 2 Missense c.376T>G p.W126G Pathogenic * sporadic gastrinoma Zhuang (1997)
48 Exon 2 Missense c.400T>C p.F134L Pathogenic sporadic prolactinoma Wrocklage (2002)
49 Exon 2 Missense c.406A>T p.K135I Pathogenic sporadic angiofibroma Boni (1998)
50 Exon 2 Missense c.415C>G p.H139D Pathogenic * Familial MEN1 Agarwal (1997)
54 Exon 2 Missense c.415C>T p.H139Y Pathogenic * MEN1 aparently sporadic Agarwal (1997)
55 Exon 2 Missense c.416A>C p.H139P Pathogenic *** Familial MEN1 Cebrian (2003)
56 Exon 2 Missense c.416A>G p.H139R Pathogenic * Familial MEN1 Martin-Campos (1999)
57 Exon 2 Missense c.422A>G p.Q141R Pathogenic sporadic gastrinoma Wang (1998)
58 Exon 2 Missense c.430T>G p.F144V Pathogenic * Familial MEN1 Agarwal (1997)
61 Exon 2 Missense c.431T>G p.F144C Pathogenic MEN1 Verges (2002)
62 Exon 2 Missense c.435C>G p.S145R Pathogenic * nonfunctioning neuroendocrine tumor Wang (1998)
63 Exon 3 Missense c.455T>G p.L152W Pathogenic * sporadic parathyroid hyperplasia Carling (1998)
64 Exon 3 Missense c.458A>T p.D153V Pathogenic ** familial isolated HPT Pannett (2003)
66 Exon 3 Missense c.457G>T p.D153Y Pathogenic * Familial MEN1 Tham (2007)
67 Exon 3 Missense c.461G>T p.S154I Pathogenic * MEN1 Turner (2002)
69 Exon 3 Missense c.464C>T p.S155F Pathogenic Engelbach (1999)
71 Exon 3 Missense c.467G>A p.G156D Pathogenic * Familial MEN1 Mutch (1999)
75 Exon 3 Missense c.466G>A p.G156S Pathogenic * Tham (2007)
77 Exon 3 Missense c.476T>G p.F159C Pathogenic ** sporadic gastrinoma Zhuang (1997)
79 Exon 3 Missense c.478G>C p.A160P Pathogenic * Familial MEN1 Agarwal (1997)
83 Exon 3 Missense c.478G>A p.A160T Pathogenic ** Familial MEN1 Teh (1998)
85 Exon 3 Missense c.484_485delGTinsTG p.V162C Pathogenic * sporadic gastrinoma Wang (1998)
86 Exon 3 Missense c.484G>T p.V162F Pathogenic ** sporadic gastrinoma Wautot (2002)
87 Exon 3 Missense c.483_484delGGinsTT p.V162F Pathogenic * MEN1 Dwight (2000)
89 Exon 3 Missense c.491C>A p.A164D Pathogenic ** Familial MEN1 Bassett (1998)
92 Exon 3 Missense c.493T>C p.C165R Pathogenic ** MEN1 Wautot (2002)
95 Exon 3 Missense c.494G>A p.C165Y Pathogenic MEN1 Ellard (2005)
96 Exon 3 Missense c.503T>C p.L168P Pathogenic *** Familial MEN1 Bartsch (1998)
99 Exon 3 Missense c.511C>T p.R171W Pathogenic Familial MEN1 Jager (2006)
100 Exon 3 Missense c.514G>T p.D172Y Pathogenic * MEN1 aparently sporadic Giraud (1998)
105 Exon 3 Missense c.515A>T p.D172V Pathogenic * neuroendocrine tumor (lung) Gortz (1999)
106 Exon 3 Missense c.524T>G p.L175R Pathogenic * sporadic HPT Farnebo (1998)
107 Exon 3 Missense c.526G>C p.A176P Pathogenic * Familial MEN1 Agarwal (1997)
108 Exon 3 Missense c.533C>A p.S178Y Pathogenic * neuroendocrine tumor Fujii (1999)
109 Exon 3 Missense c.535G>A p.E179K Pathogenic ** Familial MEN1 Weinhaeusel (2000)
111 Exon 3 Missense c.535G>C p.E179Q Pathogenic * Roijers (2000)
112 Exon 3 Missense c.536A>T p.E179V Pathogenic Moore (2001)
114 Exon 3 Missense c.537G>T p.E179D Pathogenic ** Familial MEN1 Poncin (1999)
116 Exon 3 Missense c.541_542delCAinsCG p.H181R Pathogenic ** Klein (2005)
117 Exon 3 Missense c.548G>C p.W183S Pathogenic ** Familial MEN1 Lemmens (1997)
120 Exon 3 Missense c.547T>C p.W183R Pathogenic ** MEN1 FAMILIAL Hai (1999)
122 Exon 3 Missense c.547T>G p.W183G Pathogenic sporadic insulinoma Pannett (2001)
123 Exon 3 Missense c.549G>T p.W183C Pathogenic * MEN1 Clerici (2001)
124 Exon 3 Missense c.551T>A p.V184E Pathogenic ** Isolated familial HPT Fujimori (1998)
125 Exon 3 Missense c.586G>T p.V196F Pathogenic * nonfunctioning neuroendocrine tumor Moore (2001)
126 Exon 3 Missense c.590C>T p.T197I Pathogenic *** Isolated familial HPT Warner (2004)
128 Exon 3 Missense c.631G>T p.V211F Pathogenic * Haven (2007)
129 Exon 3 Missense c.643G>A p.V215M Pathogenic * Familial MEN1 Morelli (2000)
131 Exon 4 Missense c.659G>T p.W220L Pathogenic *** Hannan (2008)
132 Exon 4 Missense c.659G>C p.W220S Pathogenic sporadic MEN1 (de novo mutation) Ellard (2005)
133 Exon 4 Missense c.668T>C p.L223P Pathogenic * MEN1 atypic Giraud (1998)
138 Exon 4 Missense c.673G>A p.G225R Pathogenic ** Familial MEN1 Hai (1999)
141 Exon 4 Missense c.686G>A p.R229H Pathogenic * Pinna (2004)
142 Exon 4 Missense c.686G>T p.R229L Pathogenic * MEN1; MEN1-like syndrome Bergman (2000)
144 Exon 4 Missense c.703G>A p.E235K Pathogenic * Tham (2007)
145 Exon 4 Missense c.721T>C p.C241R Pathogenic * White (2010)
148 Exon 4 Missense c.722G>A p.C241Y Pathogenic ** MEN1 aparently sporadic Hai (1999)
149 Exon 4 Missense c.722G>T p.C241F Pathogenic ** MEN1 Wautot (2002)
152 Exon 4 Missense c.725C>T p.A242V Pathogenic * Familial MEN1 Agarwal (1997)
153 Exon 4 Missense c.757T>C p.S253P Pathogenic ** Familial MEN1 Hai (1999)
154 Exon 4 Missense c.758C>G p.S253W Pathogenic * sporadic HPT Uchino (2000)
155 Exon 4 Missense c.758C>T p.S253L Pathogenic * sporadic HPT Tham (2007)
157 Exon 4 Missense c.763G>A p.E255K Pathogenic **** Isolated familial HPT Teh (1998)
159 Exon 4 Missense c.766C>T p.L256F Pathogenic * Tham (2007)
160 Exon 4 Missense c.776T>G p.L259R Pathogenic ** Klein (2005)
161 Exon 4 Missense c.779A>C p.Q260P Pathogenic *** Isolated familial HPT Kassem (2000)
163 Exon 5 Missense c.791T>C p.L264P Pathogenic ** Familial MEN1 Poncin (1999)
164 Exon 5 Missense c.800T>C p.L267P Pathogenic ** Isolated familial HPT Poncin (1999)
165 Exon 5 Missense c.821A>C p.E274A Pathogenic * sporadic HPT Uchino (2000)
166 Exon 6 Missense c.830C>A p.P277H Pathogenic * Familial MEN1 Perrier (2002)
167 Exon 6 Missense c.841G>A p.G281R Pathogenic ** MEN1 Wautot (2002)
170 Exon 6 Missense c.842G>A p.G281E Pathogenic Cupisti (2000)
171 Exon 6 Missense c.850G>C p.A284P Pathogenic * sporadic HPT Dwight (2000)
173 Exon 6 Missense c.851C>A p.A284E Pathogenic ** Familial MEN1 Bassett (1998)
175 Exon 6 Missense not informed p.A284Q Pathogenic ** MEN1 Wautot (2002)
176 Exon 6 Missense c.857T>C p.L286P Pathogenic * Familial MEN1 Agarwal (1997)
177 Exon 6 Missense c.871C>G p.P291A Pathogenic * sporadic HPT Scarpelli (2004)
178 Exon 7 Missense AGG to AGT p.R304S Pathogenic * nonfunctioning neuroendocrine tumor Moore (2001)
179 Exon 7 Missense c.914G>A p.G305D Pathogenic *** Isolated familial HPT Honda (2000)
180 Exon 7 Missense c.925G>C p.A309P Pathogenic * Familial MEN1 Agarwal (1997)
181 Exon 7 Missense c.931A>C p.T311P Pathogenic ** MEN1 Wautot (2002)
184 Exon 7 Missense p.R314W Pathogenic MEN1 Verges (2002)
186 Exon 7 Missense c.941G>C p.R314P Pathogenic ** MEN1 Wautot (2002)
188 Exon 7 Missense c.943G>T p.D315Y Pathogenic * White (2010)
190 Exon 7 Missense c.949C>T p.H317Y Pathogenic ** MEN1 Wautot (2002)
192 Exon 7 Missense c.950A>G p.H317R Pathogenic * suspect of MEN1 (HPT and carcinoid) Roijers (2000)
194 Exon 7 Missense c.959C>G p.P320R Pathogenic * Tham (2007)
196 Exon 7 Missense c.959C>T p.P320L Pathogenic * Familial MEN1 Tanaka (1998)
198 Exon 7 Missense c.973G>C p.A325P Pathogenic *** Familial MEN1 Park (2003)
199 Exon 7 Missense c.989G>C p.R330P Pathogenic * sporadic gastrinoma Wang (1998)
200 Exon 7 Missense c.1009G>C p.A337P Pathogenic * MEN1 Roijers (2000)
201 Exon 7 Missense c.1010C>A p.A337D Pathogenic * Familial MEN1 Giraud (1998)
206 Exon 7 Missense c.1013T>C p.L338P Pathogenic * Tham (2007)
207 Exon 7 Missense c.1018G>A p.A340T Pathogenic sporadic HPT Shan (1998)
208 Exon 7 Missense c.1021T>C p.W341R Pathogenic * MEN1 aparently sporadic Tso (2003)
211 Exon 7 Missense c.1024G>C p.A342P Pathogenic * MEN1 Ukita (2003)
212 Exon 7 Missense c.1031C>G p.T344R Pathogenic * Familial MEN1 Agarwal (1997)
214 Exon 7 Missense c.1043T>A p.I348N Pathogenic * Familial MEN1 Roijers (2000)
215 Exon 7 Missense c.1049A>T p.D350V Pathogenic * Choi (2008)
216 Exon 8 Missense c.1051T>C p.Y351H Pathogenic * Familial MEN1 Rix (2004)
218 Exon 8 Missense c.1051T>A p.Y351N Pathogenic ** Hannan (2008)
219 Exon 8 Missense c.1057T>G p.Y353D Pathogenic * Familial MEN1 (MESMA DE CARDINAL PROV?VEL) Bergman (2000)
221 Exon 8 Missense c.1063C>T p.R355W Pathogenic ** Klein (2005)
222 Exon 8 Missense c.1091T>G p.F364C Pathogenic * Tham (2007)
223 Exon 8 Missense c.1069G>C p.D357H Pathogenic ** MEN1 Wautot (2002)
224 Exon 8 Missense c.1075G>A p.E359K Pathogenic sporadic angiofibroma Boni (1998)
225 Exon 8 Missense c.1098A>T p.E366D Pathogenic Familial MEN1 (2 families) Jager (2006)
226 Exon 8 Missense c.1103C>A p.A368D Pathogenic * Familial MEN1 Giraud (1998)
228 Exon 8 Missense c.1116C>G p.I372M Pathogenic ** MEN1 Wautot (2002)
230 Exon 8 Missense c.1117C>T p.P373S Pathogenic * Familial MEN1 Bergman (2000)
232 Exon 8 Missense c.1124T>C p.L375P Pathogenic MEN1 Ellard (2005)
233 Exon 8 Missense c.1127T>C p.L376P Pathogenic * sporadic HPT Tham (2007)
234 Exon 8 Missense c.1133A>T p.E378V Pathogenic * Familial MEN1 Karges (2000)
235 Exon 8 Missense c.1154C>T p.A385V Pathogenic * Roijers (2000)
236 Exon 9 Missense c.1230C>A p.F410L Pathogenic ** ACTH-secreting pituitary tumor Zhuang (1997)
237 Exon 9 Missense c.1231G>C p.A411P Pathogenic *** Isolated familial HPT Pannett (2003)
238 Exon 9 Missense c.1238T>C p.L413P Pathogenic * MEN1 Asteria (2001)
239 Exon 9 Missense c.1241T>A p.L414Q Pathogenic MEN1 Ellard (2005)
241 Exon 9 Missense c.1244G>C p.R415P Pathogenic * Familial MEN1 Bergman (2000)
243 Exon 9 Missense c.1252G>A p.D418N Pathogenic ** sporadic HPT Heppner (1997)
253 Exon 9 Missense c.1252G>C p.D418H Pathogenic *** Isolated familial HPT Warner (2004)
258 Exon 9 Missense c.1252G>T p.D418Y Pathogenic * Familial MEN1 Ozturk (2006)
259 Exon 9 Missense c.1262G>A p.C421Y Pathogenic ** Klein (2005)
260 Exon 9 Missense c.1267T>C p.W423R Pathogenic ** MEN1 aparently sporadic Cebrian (2003)
261 Exon 9 Missense c.1268G>C p.W423S Pathogenic * Familial MEN1 Mayr (1998)
264 Exon 9 Missense c.1286C>A p.T429K Pathogenic sporadi insulinoma Shan (1998)
265 Exon 9 Missense c.1298A>C p.H433P Pathogenic Kawamura (2005)
266 Exon 9 Missense c.1306T>C p.W436R Pathogenic * Familial MEN1 Chandrasekharappa (1997)
269 Exon 9 Missense c.1308G>T p.W436C Pathogenic ** Klein (2005)
271 Exon 9 Missense c.1328C>A p.S443Y Pathogenic * Haase 2010)
272 Exon 9 Missense c.1327T>C p.S443P Pathogenic ** sporadic HPT Cetani (2000)
273 Exon 9 Missense c.1331T>C p.L444P Pathogenic ** Familial MEN1 Cetani (1999)
276 Exon 9 Missense c.1339T>C p.F447L Pathogenic * Tham (2007)
279 Exon 10 Missense c.1505A>T p.K502M Pathogenic ** non-functioning pituitary adenoma Zhuang (1997)
280 Exon 10 Missense c.1546C>G p.R516G Pathogenic *** Manzoni (2008)
281 Exon 10 Missense c.1588G>A p.E530K Pathogenic sporadic prolactinoma Wrocklage (2002)
282 Exon 10 Missense c.1592G>C p.G531A Pathogenic ** Debelenko (1997)
283 Exon 10 Missense c.1594G>T p.G532C Pathogenic ** MEN1 Wautot (2002)
285 Exon 10 Missense c.1604C>T p.A535V Pathogenic * sporadic insulinoma Zhuang (1997)
286 Exon 10 Missense c.1618C>T p.P540S Pathogenic Familial MEN1 Crepin (2003)
289 Exon 10 Missense c.1628C>T p.S543L Pathogenic ** sporadic gastrinoma Zhuang (1997)
291 Exon 10 Missense c.1630C>T p.P544S Pathogenic * MEN1 aparently sporadic Roijers (2000)
292 Exon 10 Missense c.1654A>T p.T552S Pathogenic * non-functioning adrenocortical tumor Schulte (1999)
293 Exon 10 Missense c.1664G>A p.S555N Pathogenic * MEN1 atypic Giraud (1998)
298 Exon 10 Missense c.1669A>G p.K557E Pathogenic ** Familial MEN1 Ozturk (2006)
299 Exon 10 Missense c.1673T>A p.M558K Pathogenic MEN1 Ellard (2005)
300 Exon 10 Missense c.1682T>C p.M561T Pathogenic ** sporadic HPT Heppner (1997)
301 Exon 10 Missense c.1736T>C p.L579P Pathogenic ** Familial MEN1 (3 kindreds) Jager (2006)
302 Exon 10 Missense c.1739C>G p.T580R Pathogenic * sporadic HPT Dwight (2000)