The UMD-FBN1 mutations database
Mutations associated with phenotype: SI-Loose, redundant skin

    Request ID: 8-5

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Cys598Trp	c.1794C>G	14	598	cb EGF-like #05	Disulfide bonds 598-611 (C5)	Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 134 BEL01GHE F0006 I01 Female Heterozygous BELGIUM NA 89
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	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 141 UKD03DUN F0002 I01 NA Heterozygous U.K. NA 46 718 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	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 78 FIN01HEL F0015 I01 Male Heterozygous FINLAND NA 33 291 NET02UTR F0001 I01 Female Heterozygous NETHERLAND NA 65
p.Cys1055Gly	c.3163T>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 89 AUS01NAD F0003 I05 Female Heterozygous AUSTRALIA NA 36
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.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.Cys1068Gly	c.3202T>G	25	1068	cb EGF-like #11	Disulfide bonds 1055-1068 (C6)	Small rearrangement	Tv	T->G	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 751 CAN01TOR F0002 I01 Female Heterozygous CANADA NA 123 2845 CAN01TOR F0004 I0001 Female Heterozygous SOMALIA NA 214
p.Pro1068Arg	c.[3203C>G; 3204A>G]	25	1068	cb EGF-like #11	Disulfide bonds 1055-1068 (C6)	Small rearrangement	Ts/Tv	T->C/C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1181 AUS02WES F0062 I01 Female Heterozygous AUSTRALIA NA 139
p.Asp1070Gly	c.3209A>G	25-26	1070	cb EGF-like #12	Ca2+ binding	Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 355 FRA01BOU F0189 I0228 Male Heterozygous FRANCE NA 64
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.Cys1074Arg	c.3220T>C	26	1074	cb EGF-like #12	Disulfide bonds 1074-1086 (C1)	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 17 FIN01HEL F0003 I01 NA Heterozygous FINLAND ECM incorporation 10
p.Cys1086Arg	c.3256T>C	26	1086	cb EGF-like #12	Disulfide bonds 1074-1086 (C3)	Small rearrangement	Ts	T->C	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1882 USA13PRO F0001 I0001 Female Heterozygous U.S.A. NA 169 1883 USA14ALL F0001 I0001 Male Heterozygous U.S.A. NA 170
p.Cys1086Tyr	c.3257G>A	26	1086	cb EGF-like #12	Disulfide bonds 1074-1086 (C3)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1826 TUR01ANK F0001 I0001 Male Heterozygous TURKEY NA 159
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.Cys1236Arg	c.3706T>C	29	1236	cb EGF-like #15	Disulfide bonds 1223-1236 (C6)	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 983 NET01AMS F0007 I01 Male Heterozygous NETHERLAND NA 126
	c.IVS30+1G>A (c.3838+1G>A)	30-31	1280	cb EGF-like #17	Ca2+ binding	Small rearrangement	Ts	G->A	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 752 CAN01TOR F0003 I01 Male Heterozygous CANADA NA 123 2846 CAN01TOR F0005 I0001 Male Heterozygous HUNGARY NA 214
	c.IVS31-2A>G (c.3965-2A>G)	31-32	1322	cb EGF-like #18	Ca2+ binding	Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 493 FRA01BOU F0185 I0224 Male Heterozygous U.S.A. NA 137
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
	c.IVS35-32del20a (c.4460-32del20a)	35-36	1487	cb EGF-like #22	Ca2+ binding	Small rearrangement	Tv	del20a	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3342 CZE01PRA F0001 I0001 Female Heterozygous CZECH NA 280
p.Cys1770Phe	c.5309G>T	43	1770	cb EGF-like #25	Disulfide bonds 1770-1782 (C1)	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 310 AUS01NAD F0021 I25 Female Heterozygous AUSTRALIA NA 114
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