The UMD-FBN1 mutations database
Mutations associated with phenotype: CF-Malar hypoplasia

    Request ID: 2-11

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Met1?	c.1_164del	1	1	Signal peptide		Large rearrangement Deletion from exon 1 to 1	Fr.	Stop at 9	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2137 SWI01ZUR F0052 I01 NA Heterozygous SWITZERLAND NA 110
p.Met1?	c.1_2113del	1	1	Signal peptide		Large rearrangement Deletion from exon 1 to 16	Fr.	Stop at 13	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2138 SWI01ZUR F0052 I01 NA Heterozygous SWITZERLAND NA 110
	c.IVS2-7T>G (c.248-7T>G)	2-3	83	EGF-like #01		Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 314 AUS01NAD F0010 I10 Female Heterozygous AUSTRALIA NA 114
p.Cys89Phe	c.266G>T	3	89	EGF-like #01	Disulfide bonds 89-100 (C2)	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 402 BEL01GHE F0037 I1941 Male Heterozygous BELGIUM NA 89
p.Arg122Cys	c.364C>T	4	122	EGF-like #02		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 416 BEL01GHE F0051 I2903 Female Heterozygous BELGIUM NA 89
p.Trp366Cys	c.1098G>T	9	366	TGFBP#01		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 417 BEL01GHE F0052 I3372 Female Heterozygous BELGIUM NA 89
p.Cys460LeufsX16	c.1378dup	11	460	EGF-like #04	Disulfide bonds 460-474 (C2)	Small rearrangement	Fr.	Stop at 475	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 306 AUS01NAD F0012 I34 Male Heterozygous AUSTRALIA NA 114
p.Ile531_Asp2055del	c.1589_6163del	12-13	530	cb EGF-like #04	Ca2+ binding	Large rearrangement Deletion from exon 13 to 49	InF	In frame del	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1881 UKD08SOU F0001 I0001 Female Heterozygous U.K. NA 168
p.Cys570Tyr	c.1709G>A	13	570	cb EGF-like #04	Disulfide bonds 557-570 (C6)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 384 BEL01GHE F0019 I2264 Male Heterozygous BELGIUM NA 89
p.Asn615del	c.1843_1845delAAC	15	615	cb EGF-like #06	Ca2+ binding	Small rearrangement	InF	In frame del	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 431 BEL01GHE F0058 I0472 Male Heterozygous BELGIUM NA 89
p.Ala686Asp	c.2057C>A	16	686	TGFBP#02		Small rearrangement	Tv	C->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 626 FRA01BOU F0170 I0209 Male Heterozygous FRANCE NA 64
p.Cys781Arg	c.2341T>C	19	781	cb EGF-like #08	Disulfide bonds 769-781 (C3)	Small rearrangement	Ts	T->C	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 395 BEL01GHE F0030 I2178 Female Heterozygous BELGIUM NA 89 405 BEL01GHE F0040 I1663 Female Heterozygous BELGIUM NA 89
p.Glu863X	c.2586dup	21	863	Hybrid motif #02		Small rearrangement	Fr.	Stop at 863	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 434 BEL01GHE F0061 I2034 Male Heterozygous BELGIUM NA 89
p.Asp893Asn	c.2677G>A	21-22	893	Hybrid motif #02		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 438 BEL01GHE F0028 I2090 Female Heterozygous BELGIUM NA 89
p.Gly985Arg	c.2953G>A	24	985	TGFBP#03		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 409 BEL01GHE F0044 I1318 Female Heterozygous BELGIUM NA 89
p.Leu1038Phe	c.3112C>T	25	1038	cb EGF-like #11	conserved AA in cbEGF-like	Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3332 GER03HAN F0117 I0002 Female Heterozygous GERMANY NA 275 3331 GER03HAN F0117 I0001 Male Heterozygous GERMANY NA 275
p.Cys1055Tyr	c.3164G>A	25	1055	cb EGF-like #11	Disulfide bonds 1055-1068 (C5)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 398 BEL01GHE F0033 I2112 Male Heterozygous BELGIUM NA 89
p.Tyr1101Cys	c.3302A>G	26	1101	cb EGF-like #12	conserved AA in cbEGF-like	Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1274 AUS02WES F0063 I01 Male Heterozygous AUSTRALIA NA 142
p.Cys1138Gly	c.3412T>G	27	1138	cb EGF-like #13	Disulfide bonds 1124-1138 (C4)	Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 651 FRA01BOU F0149 I0188 Male Heterozygous FRANCE NA 64
p.Tyr1178Cys	c.3533A>G	28	1178	cb EGF-like #14	Ca2+ binding	Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 632 FRA01BOU F0258 I0297 Male Heterozygous FRANCE NA 64
p.Cys1221Tyr	c.3662G>A	29	1221	cb EGF-like #15	Disulfide bonds 1208-1221 (C4)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1273 JAP02TOK F0002 I0001 Male Heterozygous JAPAN NA 141
p.Asn1332ThrfsX82	c.3993_3994dup	32	1332	cb EGF-like #18		Small rearrangement	Fr.	Stop at 1413	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 647 FRA01BOU F0262 I0301 Male Heterozygous FRANCE NA 64
p.Cys1339Tyr	c.4016G>A	32	1339	cb EGF-like #18	Disulfide bonds 1326-1339 (C3)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 397 BEL01GHE F0032 I2243 Male Heterozygous BELGIUM NA 89
	c.IVS35-8G>A (c.4460-8G>A)	35-36	1487	cb EGF-like #22	Ca2+ binding	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 440 BEL01GHE F0066 I1822 Male Heterozygous BELGIUM NA 89
p.Arg1539X	c.4615C>T	37	1539	TGFBP#04		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 389 BEL01GHE F0024 I1183 Female Heterozygous BELGIUM NA 89
p.Arg1541X	c.4621C>T	37	1541	TGFBP#04	RGD	Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 391 BEL01GHE F0026 I2036 Male Heterozygous BELGIUM NA 89
p.Arg1596X	c.4786C>T	38	1596	TGFBP#04		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 388 BEL01GHE F0023 I1766 Female Heterozygous BELGIUM NA 89
p.Arg1644X	c.4930C>T	39	1644	cb EGF-like #23		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 392 BEL01GHE F0027 I2369 Male Heterozygous BELGIUM NA 89
p.Cys1695Tyr	c.5084G>A	41	1695	TGFBP#05	C in disulfide bonds 1695-1719	Small rearrangement	Ts	G->A	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3207 USA05HOU F0026 I0001 Female Heterozygous U.S.A. NA 255 3208 USA05HOU F0026 I0002 Female Heterozygous U.S.A. NA 255
p.Gly1796Glu	c.5387G>A	43	1796	cb EGF-like #25	conserved AA in cbEGF-like	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 576 AUS01NAD F0026 I01 Male Heterozygous AUSTRALIA NA 103
p.Cys1824_Gly1829dup	c.5470_5484dup	44	1829	cb EGF-like #26	Domain-domain packing	Small rearrangement	Fr.	In frame ins	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 518 BEL01GHE F0071 I1804 Male Heterozygous BELGIUM NA 89
p.Asp1834X	c.5499dup	44	1834	cb EGF-like #26	Ca2+ binding	Small rearrangement	Fr.	Stop at 1834	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 433 BEL01GHE F0060 I1988 Female Heterozygous BELGIUM NA 89
p.Cys1835Tyr	c.5504G>A	44	1835	cb EGF-like #26	Disulfide bonds 1835-1847 (C5)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 406 BEL01GHE F0041 I1506 Male Heterozygous BELGIUM NA 89
p.Ile1909Thr	c.5726T>C	46	1909	cb EGF-like #28	Ca2+ binding	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 401 BEL01GHE F0036 I0979 Male Heterozygous BELGIUM NA 89
	c.IVS46+1G>A (c.5788+1G>A)	46-47	1930	cb EGF-like #29	Ca2+ binding	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 420 UKD04OXF F0021 I01 Male Heterozygous U.K. NA 90
	c.IVS46+5G>A (c.5788+5G>A)	46-47	1930	cb EGF-like #29	Ca2+ binding	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 442 BEL01GHE F0068 I1316 Male Heterozygous BELGIUM NA 89
p.Cys1971Tyr	c.5912G>A	47	1971	cb EGF-like #29	Disulfide bonds 1958-1971 (C6)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 383 BEL01GHE F0011 I2312 Female Heterozygous BELGIUM NA 89
p.Gly2195X	c.6583G>T	53	2195	cb EGF-like #33	conserved AA in cbEGF-like	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 390 BEL01GHE F0025 I1692 Female Heterozygous BELGIUM NA 89
p.Asn2223His	c.6667A>C	54	2223	cb EGF-like #34	Ca2+ binding	Small rearrangement	Tv	A->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 410 BEL01GHE F0045 I1317 Male Heterozygous BELGIUM NA 89
p.Cys2470Tyr	c.7409G>A	59	2470	cb EGF-like #38	Disulfide bonds 2470-2483 (C5)	Small rearrangement	Ts	G->A	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3201 CAN02VAN F0001 I0001 Female Heterozygous CANADA NA 254 3202 CAN02VAN F0001 I0002 Male Heterozygous CANADA NA 254 3203 CAN02VAN F0001 I0003 Female Heterozygous CANADA NA 254
p.Asn2526MetfsX156	c.7577delA	61	2526	cb EGF-like #40	Ca2+ binding	Small rearrangement	Fr.	Stop at 2681	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 435 BEL01GHE F0062 I1120 Female Heterozygous BELGIUM NA 89
p.Phe2556LeufsX2	c.7667_7692del	61	2556	cb EGF-like #40	conserved AA in cbEGF-like	Small rearrangement	Fr.	Stop at 2557	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 673 FRA01BOU F0267 I0306 Male Heterozygous FRANCE NA 145
p.Ile2585Thr	c.7754T>C	62	2585	cb EGF-like #41	Ca2+ binding	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 418 BEL01GHE F0053 I0803 Male Heterozygous BELGIUM NA 89
p.Gly2618Arg	c.7852G>A	63	2618	cb EGF-like #42		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 413 BEL01GHE F0048 I1427 Female Heterozygous BELGIUM NA 89
p.Asn2624Lys	c.7872C>G	63	2624	cb EGF-like #42	Ca2+ binding	Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 380 BEL01GHE F0018 I1931 Female Heterozygous BELGIUM NA 89
p.Glu2717X	c.8149G>T	64	2717	FibuCTDIII-like motif		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 385 BEL01GHE F0020 I1492 Male Heterozygous BELGIUM NA 89
p.Arg2726Trp	c.8176C>T	64	2726	FibuCTDIII-like motif		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2192 ITA01FLO F0103 I0001 Male Heterozygous ITALIA NA 97