The UMD-FBN1 mutations database
Mutations associated with phenotype: C-Pulmonary valve insufficiency

    Request ID: 1-23

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
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.Gly1058_Phe1059insCys	c.3175insTGC	25	1059	cb EGF-like #11	conserved AA in cbEGF-like	Small rearrangement	Fr.	In frame ins	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 33 USA05HOU F0001 I01 NA Heterozygous U.S.A Type V d 15
p.Ile1071Ser	c.3212T>G	26	1071	cb EGF-like #12	Ca2+ binding	Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 561 USA02OMA F0007 I01 Female Heterozygous U.S.A NA 38
p.Glu1073Lys	c.3217G>A	26	1073	cb EGF-like #12	Ca2+ binding	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 69 USA05HOU F0010 I269 Female Heterozygous U.S.A NA 26
p.Glu1073Asp	c.3219A>T	26	1073	cb EGF-like #12	Ca2+ binding	Small rearrangement	Tv	A->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 352 USA02OMA F0007 I01 Female Heterozygous U.S.A NA 38
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.Cys1201Tyr	c.3602G>A	29	1201	cb EGF-like #15	Disulfide bonds 1201-1212 (C1)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1889 TUR02ANK F0001 I0001 Male Heterozygous TURKEY NA 171
p.Cys1721Gly	c.5161T>G	41	1721	TGFBP#05	C in disulfide bonds 1721-1748	Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3170 JAP04KOB F0001 I0001 Female Heterozygous JAPAN NA 245