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

    Request ID: 6-4

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
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.Leu1038Phe	c.3112C>T	25	1038	cb EGF-like #11	conserved AA in cbEGF-like	Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3331 GER03HAN F0117 I0001 Male Heterozygous GERMANY NA 275
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.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.Cys1221Tyr	c.3662G>A	29	1221	cb EGF-like #15	Disulfide bonds 1208-1221 (C4)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1273 JAP02TOK F0002 I0001 Male Heterozygous JAPAN NA 141
p.Cys1307Tyr	c.3920G>A	31	1307	cb EGF-like #17	Disulfide bonds 1307-1320 (C5)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 631 FRA01BOU F0171 I0210 Male Heterozygous FRANCE NA 64
p.Cys1564Ser	c.4691G>C	37	1564	TGFBP#04	C in disulfide bonds 1564-1589	Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2188 USA01BAL F0038 I0001 Female Heterozygous U.S.A. NA 206
p.Trp1570Cys	c.4710G>C	37	1570	TGFBP#04		Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2186 USA01BAL F0036 I0002 Male Heterozygous U.S.A. NA 206
p.Trp1570Cys	c.4710G>T	37	1570	TGFBP#04		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2187 USA01BAL F0037 I0002 Female Heterozygous U.S.A. NA 206
p.Cys1577Gly	c.4729T>G	37	1577	TGFBP#04	C in disulfide bonds 1563-1577	Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2189 USA01BAL F0039 I0001 Male Heterozygous U.S.A. NA 206
p.Gly1594Asp	c.4781G>A	38	1594	TGFBP#04	conserved AA in TGFBP	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2190 USA01BAL F0040 I0001 Male Heterozygous U.S.A. NA 206