The UMD-FBN1 mutations database
Mutations associated with phenotype: CF-Micrognathia

    Request ID: 2-12

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
	c.IVS2-7T>G (c.248-7T>G)	2-3	83	EGF-like #01		Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 314 AUS01NAD F0010 I10 Female Heterozygous AUSTRALIA NA 114
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.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.Cys1153Tyr	c.3458G>A	27	1153	cb EGF-like #13	Disulfide bonds 1140-1153 (C6)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 88 AUS01NAD F0004 I04 Male Heterozygous AUSTRALIA NA 36
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.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
p.Cys1320Tyr	c.3959G>A	31	1320	cb EGF-like #17	Disulfide bonds 1307-1320 (C6)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3209 USA21MIL F0001 I0001 Male Heterozygous U.S.A. NA 257
p.Leu1364_Asp1404del	c.4088_4210del	32-33	1363	cb EGF-like #19	Ca2+ binding	Large rearrangement Deletion from exon 33 to 33	InF	In frame del	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1880 UKD08SOU F0002 I0001 Female Heterozygous U.K. NA 168
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