The UMD-FBN1 mutations database
Mutations associated with phenotype: O-Coloboma

    Request ID: 5-7

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
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.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.Cys1470Arg	c.4408T>C	35	1470	cb EGF-like #21	Disulfide bonds 1456-1470 (C4)	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 508 FRA01BOU F0218 I0257 Female Heterozygous FRANCE NA 64
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 309 AUS01NAD F0020 I08 Female Heterozygous AUSTRALIA NA 114
p.Cys1806Ser	c.5417G>C	43	1806	cb EGF-like #25	Disulfide bonds 1793-1806 (C6)	Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 465 GER01BER F0044 I05 Male Heterozygous GERMANY NA 95
p.Cys2511Arg	c.7531T>C	60	2511	cb EGF-like #39	Disulfide bonds 2511-2522 (C5)	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 126 FIN01HEL F0011 I01 Female Heterozygous FINLAND NA 10