The UMD-FBN1 mutations database
Mutations associated with phenotype: S-Kyphosis

    Request ID: 6-22

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Gln176SerfsX14	c.526delC	5	176	EGF-like#03		Small rearrangement	Fr.	Stop at 189	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 492 FRA01BOU F0147 I0186 Female Heterozygous FRANCE NA 64
p.Thr212SerfsX10	c.635_636delCA	6	212	Hybrid module#01		Small rearrangement	Fr.	Stop at 221	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 354 FRA01BOU F0142 I0181 Female Heterozygous FRANCE NA 64
p.Arg240His	c.719G>A	6	240	Hybrid module#01		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2038 NET04NIJ F0003 I0001 Female Heterozygous NETHERLAND NA 184
p.Arg364X	c.1090C>T	9	364	TGFBP#01		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 484 FRA01BOU F0169 I0208 Male Heterozygous FRANCE NA 64
p.Met657AlafsX23	c.1969_1970delAT	16	657	TGFBP#02		Small rearrangement	Fr.	Stop at 679	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 504 FRA01BOU F0148 I0187 Male Heterozygous FRANCE NA 64
p.Asp723Asn	c.2167G>A	17-18	723	cb EGF-like #07	Ca2+ binding	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2123 ITA01FLO F0096 I0001 Male Heterozygous ITALIA NA 192
p.Asp1028Val	c.3083A>T	24-25	1028	cb EGF-like #11	Ca2+ binding	Small rearrangement	Tv	A->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 427 CHI01HKO F0002 I0001 Male Heterozygous CHINA NA 94
p.Ile1048del	c.3142_3144delATT	25	1048	cb EGF-like #11	Ca2+ binding	Small rearrangement	InF	In frame del	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 67 USA05HOU F0007 I251 NA Heterozygous U.S.A NA 26
p.Cys1081Gly	c.3241T>G	26	1081	cb EGF-like #12	Disulfide bonds 1081-1095 (C2)	Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 163 FRA01BOU F0113 I0151 Male Heterozygous FRANCE NA 64
p.Pro1141Leu	c.3422C>T	27	1141	cb EGF-like #13		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3360 ISR01HAI F0001 I0001 Male Heterozygous ISRAEL NA 284
p.Arg1170His	c.3509G>A	28	1170	cb EGF-like #14		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 198 USA01BAL F0031 I01 Female Heterozygous U.S.A NA 60
p.Pro1424Ala	c.4270C>G	34	1424	cb EGF-like #20	Ca2+ binding	Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2183 FRA04DIJ F0003 I0001 Male Heterozygous FRANCE NA 256
p.Cys1782Arg	c.5344T>C	43	1782	cb EGF-like #25	Disulfide bonds 1770-1782 (C3)	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 511 FRA01BOU F0143 I0182 Male Heterozygous FRANCE NA 64
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
	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
p.Glu2194X	c.6580G>T	53	2194	cb EGF-like #33		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2973 SPA01MAD F0001 I0002 Female Heterozygous SPAIN NA 235
p.Arg2220X	c.6658C>T	54	2220	cb EGF-like #34		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 499 FRA01BOU F0154 I0193 Female Heterozygous FRANCE NA 64
p.Cys2232Tyr	c.6695G>A	54	2232	cb EGF-like #34	Disulfide bonds 2232-2245 (C5)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 174 ITA01FLO F0002 I02 Female Heterozygous ITALIA NA 50
p.Cys2489Arg	c.7465T>C	60	2489	cb EGF-like #39	Disulfide bonds 2489-2500 (C1)	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2840 USA09FAR F0002 I01 Male Heterozygous U.S.A. NA 210
p.Gly2536Arg	c.7606G>A	61	2536	cb EGF-like #40	Ca2+ binding	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 368 UKD05LON F0005 I24 Female Heterozygous U.K. NA 83
p.Arg2576Cys	c.7726C>T	62	2576	cb EGF-like #41		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3194 USA20SAN F0001 I0001 Female Homozygous MEXICO NA 252
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 483 FRA01BOU F0183 I0222 Female Heterozygous FRANCE NA 64
p.Cys2617Trp	c.7851C>G	63	2617	cb EGF-like #42	Disulfide bonds 2617-2631 (C2)	Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 512 FRA01BOU F0151 I0190 Female Heterozygous FRANCE NA 64
p.Lys2719AspfsX18	c.8155_8156delAA	64	2719	FibuCTDIII-like motif		Small rearrangement	Fr.	Stop at 2736	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2850 GER01BER F0072 I0001 Female Heterozygous GERMANY NA 218