The UMD-FBN1 mutations database
Mutations associated with phenotype: C-Pulmonary art. dilatation

    Request ID: 1-22

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
	c.IVS16-1G>C (c.2114-1G>C)	16-17	705	TGFBP#02		Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 439 BEL01GHE F0065 I0795 Female Heterozygous BELGIUM NA 89
p.Gly1013Arg	c.3037G>C	24	1013	TGFBP#03	conserved AA in TGFBP	Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 104 AUS01NAD F0025 I01 Male Heterozygous AUSTRALIA NA 77
p.Lys1023Asn	c.3069G>C	24	1023			Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 18 FIN01HEL F0004 I01 Male Heterozygous FINLAND NA 10
p.Cys1032Tyr	c.3095G>A	25	1032	cb EGF-like #11	Disulfide bonds 1032-1044 (C1)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 141 UKD03DUN F0002 I01 NA Heterozygous U.K. NA 46
p.Ile1048Thr	c.3143T>C	25	1048	cb EGF-like #11	Ca2+ binding	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 291 NET02UTR F0001 I01 Female Heterozygous NETHERLAND NA 65
p.Asp1072Gly	c.3215A>G	26	1072	cb EGF-like #12	Ca2+ binding	Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 64 USA05HOU F0009 I182 NA Heterozygous U.S.A NA 26
p.Ser1202_Cys1223del	c.3603_3668del	29	1201	cb EGF-like #15	Disulfide bonds 1201-1212 (C1)	Small rearrangement	InF	In frame del	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 292 FIN01HEL F0021 I01 NA Heterozygous FINLAND NA 61
	c.IVS30-1G>T (c.3839-1G>T)	30-31	1280	cb EGF-like #17	Ca2+ binding	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 91 USA03STA F0006 I1121 NA Heterozygous U.S.A Type IV 28
	c.IVS31+1G>A (c.3964+1G>A)	31-32	1322	cb EGF-like #18	Ca2+ binding	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 197 GER01BER F0002 I0775 Male Heterozygous GERMANY NA 52
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.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