Stojanov_tab2: Summary of mutations in the tumour necrosis factor receptor 1 gene (TNFRSF1A)

Expert Reviews in Molecular Medicine: http://www.expertreviews.org/
Accession information: Vol. 7; Issue 22; 11 October 2005 Abstract
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Summary of mutations in the tumour necrosis factor receptor 1 gene (TNFRSF1A)

Silvia Stojanov and Michael F. McDermott

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Table 2. Summary of mutations in the tumour necrosis factor receptor 1 gene (TNFRSF1A)^a

Nucleotide Amino acid Exon location CRD

145 T_C Y20H Exon 2 1

145 T_G Y20D Exon 2 1

151 C_T H22Y Exon 2 1

153 C_G H22Q Exon 2 1

172 G_T C29F Exon 2 1

175 T_C C30R Exon 3 1

176 G_C C30S Exon 3 1

176 G_A C30Y Exon 3 1

184 T_G C33G Exon 3 1

185 G_A C33Y Exon 3 1

c.193-14 G_A Splice junction Intron 3 1

194 G_A G36E Exon 3 1

197 T_C T37I Exon 3 1

200 A_G Y38C Exon 3 1

204 G_C L39F Exon 3 1

c.211_213del DD42del Exon 3 1

214 T_C C43R Exon 3 1

215 G_A C43Y Exon 3 1

224 C_T P46L Exon 3 1

236 C_A T50K Exon 3 1

236 C_T T50M Exon 3 1

241 T_C C52R Exon 3 1

242 G_T C52F Exon 3 1

250 T_C C55R Exon 3 2

251 G_C C55S Exon 3 2

267 C_G F60L Exon 3 2

269 C_T T61I Exon 3 2

281 A_T N65I Exon 3 2

287 T_C L67P Exon 3 2

c.293_295del H69fs Exon 3 2

295 T_C C70R Exon 3 2

295 T_A C70S Exon 3 2

295 T_G C70G Exon 3 2

296 G_A C70Y Exon 3 2

304 T_C C73R Exon 3 2

306 C_G C73W Exon 3 2

343 T_C S86P Exon 4 2

349 T_C C88R Exon 4 2

350 G_A C88Y Exon 4 2

361 G_C R92P Exon 4 2

362 G_A R92Q Exon 4 2

373 G_A C96Y Exon 4 2

380 G_A C98Y Exon 4 3

398 G_A R104Q Exon 4 3

421 T_A F112I Exon 4 3

596 T_A I170N Exon 6 –

^a At least 46TNFRSF1A mutations have been described so far. All sequence variants shown in this table are included in the INFEVERS database (http://fmf.igh.cnrs.fr/infevers). Of the mutations involving cysteine residues, all except one (98%) are located in the extracellular domains; the single exception is the I170N mutation, located very close to the receptor cleavage site, between Asn172 and Val173, which is adjacent to the transmembrane domain. (This mutation was reported as I199N to include the 29 amino acid signal peptide that is not present in the mature peptide.)

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*Table 2. Summary of mutations in the tumour necrosis factor receptor 1 gene (TNFRSF1A)^a*
Nucleotide	Amino acid	Exon location	CRD
145 T_C	Y20H	Exon 2	1
145 T_G	Y20D	Exon 2	1
151 C_T	H22Y	Exon 2	1
153 C_G	H22Q	Exon 2	1
172 G_T	C29F	Exon 2	1
175 T_C	C30R	Exon 3	1
176 G_C	C30S	Exon 3	1
176 G_A	C30Y	Exon 3	1
184 T_G	C33G	Exon 3	1
185 G_A	C33Y	Exon 3	1
c.193-14 G_A	Splice junction	Intron 3	1
194 G_A	G36E	Exon 3	1
197 T_C	T37I	Exon 3	1
200 A_G	Y38C	Exon 3	1
204 G_C	L39F	Exon 3	1
c.211_213del	DD42del	Exon 3	1
214 T_C	C43R	Exon 3	1
215 G_A	C43Y	Exon 3	1
224 C_T	P46L	Exon 3	1
236 C_A	T50K	Exon 3	1
236 C_T	T50M	Exon 3	1
241 T_C	C52R	Exon 3	1
242 G_T	C52F	Exon 3	1
250 T_C	C55R	Exon 3	2
251 G_C	C55S	Exon 3	2
267 C_G	F60L	Exon 3	2
269 C_T	T61I	Exon 3	2
281 A_T	N65I	Exon 3	2
287 T_C	L67P	Exon 3	2
c.293_295del	H69fs	Exon 3	2
295 T_C	C70R	Exon 3	2
295 T_A	C70S	Exon 3	2
295 T_G	C70G	Exon 3	2
296 G_A	C70Y	Exon 3	2
304 T_C	C73R	Exon 3	2
306 C_G	C73W	Exon 3	2
343 T_C	S86P	Exon 4	2
349 T_C	C88R	Exon 4	2
350 G_A	C88Y	Exon 4	2
361 G_C	R92P	Exon 4	2
362 G_A	R92Q	Exon 4	2
373 G_A	C96Y	Exon 4	2
380 G_A	C98Y	Exon 4	3
398 G_A	R104Q	Exon 4	3
421 T_A	F112I	Exon 4	3
596 T_A	I170N	Exon 6	–
^a At least 46TNFRSF1A mutations have been described so far. All sequence variants shown in this table are included in the INFEVERS database (http://fmf.igh.cnrs.fr/infevers). Of the mutations involving cysteine residues, all except one (98%) are located in the extracellular domains; the single exception is the I170N mutation, located very close to the receptor cleavage site, between Asn172 and Val173, which is adjacent to the transmembrane domain. (This mutation was reported as I199N to include the 29 amino acid signal peptide that is not present in the mature peptide.)