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

    Request ID: 6-11

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Gly1013Arg	c.3037G>A	24	1013	TGFBP#03	conserved AA in TGFBP	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 44 USA01BAL F0018 I01 Female Heterozygous U.S.A NA 21
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 718 UKD05LON F0024 I01 Male Heterozygous U.K. NA 118
p.Lys1043Arg	c.3128A>G	25	1043	cb EGF-like #11		Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 81 USA02OMA F0004 I324 Male Heterozygous U.S.A NA 35
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.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.Cys1055Trp	c.3165T>G	25	1055	cb EGF-like #11	Disulfide bonds 1055-1068 (C5)	Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 399 BEL01GHE F0034 I2115 Male Heterozygous BELGIUM NA 115
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 45 USA01BAL F0019 I01 NA Heterozygous U.S.A NA 21
	c.IVS27-1G>A (c.3464-1G>A)	27-28	1155	cb EGF-like #14	Ca2+ binding	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 502 FRA01BOU F0126 I0164 Female Heterozygous FRANCE NA 64
	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 36 USA02OMA F0002 I896 NA Heterozygous U.S.A Type IV 17
p.Cys1748Arg	c.5242T>C	42	1748	TGFBP#05	C in disulfide bonds 1721-1748	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3206 USA05HOU F0025 I0001 Male Heterozygous U.S.A. NA 255
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