The UMD-FBN1 mutations database
Mutations associated with phenotype: S-Long bone over growth

    Request ID: 6-24

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Trp217Gly	c.649T>G	6	217	Hybrid module#01		Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 20 FIN01HEL F0006 I01 Male Heterozygous FINLAND Type II 10
p.Arg545Cys	c.1633C>T	13	545	cb EGF-like #04		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 135 BEL01GHE F0005 I01 Male Heterozygous BELGIUM NA 89
p.Cys598Trp	c.1794C>G	14	598	cb EGF-like #05	Disulfide bonds 598-611 (C5)	Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 134 BEL01GHE F0006 I01 Female Heterozygous BELGIUM NA 89
p.Asp613ThrfsX12	c.1836delA	14	612	cb EGF-like #05	Ca2+ binding	Small rearrangement	Fr.	Stop at 624	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 102 BRA01SPA F0001 I01 Male Heterozygous BRAZIL NA 39
p.Cys790Ser	c.2368T>A	19	790	cb EGF-like #08	Disulfide bonds 776-790 (C4)	Small rearrangement	Tv	T->A	11
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3077 NET04NIJ F0004 I0011 Male Heterozygous PAKISTAN NA 240 3067 NET04NIJ F0004 I0001 Male Heterozygous PAKISTAN NA 240 3068 NET04NIJ F0004 I0002 Male Heterozygous PAKISTAN NA 240 3069 NET04NIJ F0004 I0003 Male Heterozygous PAKISTAN NA 240 3070 NET04NIJ F0004 I0004 Male Heterozygous PAKISTAN NA 240 3071 NET04NIJ F0004 I0005 Male Heterozygous PAKISTAN NA 240 3072 NET04NIJ F0004 I0006 Female Heterozygous PAKISTAN NA 240 3073 NET04NIJ F0004 I0007 Female Heterozygous PAKISTAN NA 240 3074 NET04NIJ F0004 I0008 Female Heterozygous PAKISTAN NA 240 3075 NET04NIJ F0004 I0009 Male Heterozygous PAKISTAN NA 240 3076 NET04NIJ F0004 I0010 Male Heterozygous PAKISTAN NA 240
p.Cys1117Tyr	c.3350G>A	27	1117	cb EGF-like #13	Disulfide bonds 1117-1129 (C1)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 28 USA03STA F0002 I783 Female Heterozygous U.S.A Type IV d 12
p.Arg1137Pro	c.3410G>C	27	1137	cb EGF-like #13	Ca2+ binding	Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2 USA01BAL F0002 I01 Female Heterozygous U.S.A NA 1
p.Asp1155AlafsX32	c.3464_3480del	27-28	1155	cb EGF-like #14	Ca2+ binding	Small rearrangement	Fr.	Stop at 1186	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 29 USA03STA F0003 I773 NA Heterozygous U.S.A Type II 12
p.Cys1166Tyr	c.3497G>A	28	1166	cb EGF-like #14	Disulfide bonds 1166-1180 (C2)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 97 BRA01SPA F0002 I01 Female Heterozygous BRAZIL NA 39
p.Cys1182Ser	c.3545G>C	28	1182	cb EGF-like #14	Disulfide bonds 1182-1195 (C5)	Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 96 BRA01SPA F0003 I01 Male Heterozygous BRAZIL NA 39
p.Glu1200Gly	c.3599A>G	29	1200	cb EGF-like #15	Ca2+ binding	Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 125 FIN01HEL F0016 I01 Female Heterozygous FINLAND NA 43
p.Cys1249Ser	c.3746G>C	30	1249	cb EGF-like #16	Disulfide bonds 1249-1263 (C2)	Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3 USA01BAL F0003 I04 Female Heterozygous U.S.A Type IV 2
p.Val1338TyrfsX75	c.4011delT	32	1337	cb EGF-like #18		Small rearrangement	Fr.	Stop at 1412	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 103 BRA01SPA F0004 I01 Male Heterozygous BRAZIL NA 39
p.Cys1497Ser	c.4490G>C	36	1497	cb EGF-like #22	Disulfide bonds 1497-1511 (C2)	Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 98 BRA01SPA F0005 I01 Female Heterozygous BRAZIL NA 39
p.Gly1620GlufsX20	c.4857delA	39	1619	cb EGF-like #23		Small rearrangement	Fr.	Stop at 1639	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 49 USA01BAL F0022 I01 NA Heterozygous U.S.A NA 21
p.Cys1663Arg	c.4987T>C	40	1663	cb EGF-like #24	Disulfide bonds 1652-1663 (C3)	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 4 USA01BAL F0004 I05 Male Heterozygous U.S.A Type III 2
p.Asn1713IlefsX23	c.5134_5137dup	41	1713	TGFBP#05	N-linked glycosylation	Small rearrangement	Fr.	Stop at 1735	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 9 USA01BAL F0009 I03 Male Heterozygous U.S.A NA 4
p.Cys1818Tyr	c.5453G>A	44	1818	cb EGF-like #26	Disulfide bonds 1818-1833 (C2)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 100 BRA01SPA F0006 I01 Female Heterozygous BRAZIL NA 39
p.Glu1823X	c.5467G>T	44	1823	cb EGF-like #26		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 99 BRA01SPA F0007 I01 Male Heterozygous BRAZIL NA 39
p.Asp1967MetfsX13	c.5898delA	47	1966	cb EGF-like #29		Small rearrangement	Fr.	Stop at 1979	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 138 BEL01GHE F0002 I01 Male Heterozygous BELGIUM NA 89
p.Cys1977Tyr	c.5930G>A	48	1977	cb EGF-like #30	Disulfide bonds 1977-1989 (C1)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 136 BEL01GHE F0004 I01 Female Heterozygous BELGIUM NA 89
	c.IVS53+1G>C (c.6616+1G>C)	53-54	2206	cb EGF-like #34	Ca2+ binding	Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 11 USA02OMA F0001 I01 Female Heterozygous U.S.A NA 6
p.Cys2221Ser	c.6662G>C	54	2221	cb EGF-like #34	Disulfide bonds 2210-2221 (C3)	Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 7 USA01BAL F0005 I06 Male Heterozygous U.S.A Type IV d 2
p.Cys2307Ser	c.6920G>C	56	2307	cb EGF-like#36	Disulfide bonds 2295-2307 (C3)	Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 5 USA01BAL F0006 I01 Female Heterozygous U.S.A Type IV d 3
p.His2623Pro	c.7868A>C	63	2623	cb EGF-like #42	Ca2+ binding	Small rearrangement	Tv	A->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 108 USA05HOU F0003 I01 NA Heterozygous U.S.A NA 24
p.Arg2680Cys	c.8038C>T	63	2680	cb EGF-like #43		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 59 USA05HOU F0004 I01 Male Heterozygous U.S.A NA 24
	c.IVS63+5G>A (c.8051+5G>A)	63-64	2684	cb EGF-like #43		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 188 USA05HOU F0006 I01 NA Heterozygous U.S.A NA 24
	c.IVS63-2A>G (c.8052-2A>G)	63-64	2684	cb EGF-like #43		Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 60 USA05HOU F0005 I01 NA Heterozygous U.S.A NA 24
p.Trp2756X	c.8268G>A	65	2756	FibuCTDIII-like motif		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 16 FIN01HEL F0002 I01 Male Heterozygous FINLAND NA 9