The UMD-FBN1 mutations database
Asn to Ser mutations

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Asn164Ser	c.491A>G	5	164	EGF-like#03		Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 613 UKD05LON F0015 I01 Female Heterozygous U.K. NA 108
p.Asn589Ser	c.1766A>G	14	589	cb EGF-like #05	Ca2+ binding	Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1905 ITA01FLO F0089 I0001 Female Heterozygous ITALIA NA 175
p.Asn1046Ser	c.3137A>G	25	1046	cb EGF-like #11	Ca2+ binding	Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2096 KOR01SEO F0015 I0001 NA Heterozygous S. KOREA NA 189
p.Asn1088Ser	c.3263A>G	26	1088	cb EGF-like #12	Ca2+ binding	Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3034 JAP02TOK F0011 I0001 NA Heterozygous JAPAN NA 229
p.Asn1168Ser	c.3503A>G	28	1168	cb EGF-like #14		Small rearrangement	Ts	A->G	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3035 JAP02TOK F0012 I0001 NA Heterozygous JAPAN NA 229 2234 FRA01BOU F0490 I0527 Male Heterozygous FRANCE NA 207
p.Asn1282Ser	c.3845A>G	31	1282	cb EGF-like #17	Ca2+ binding	Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2502 FRA01BOU F0758 I0795 Female Heterozygous FRANCE NA 207
p.Asn1341Ser	c.4022A>G	32	1341	cb EGF-like #18	Ca2+ binding	Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 242 USA03STA F0030 I01 NA Heterozygous U.S.A NA 54
p.Asn1382Ser	c.4145A>G	33	1382	cb EGF-like #19	Ca2+ binding	Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 46 USA01BAL F0021 I01 NA Heterozygous U.S.A NA 21
p.Asn1504Ser	c.4511A>G	36	1504	cb EGF-like #22	Ca2+ binding	Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2233 FRA01BOU F0489 I0526 Male Heterozygous FRANCE NA 207
p.Asn1826Ser	c.5477A>G	44	1826	cb EGF-like #26	Ca2+ binding	Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1938 CHI01HKO F0016 I0001 NA Heterozygous CHINA NA 181
p.Asn1907Ser	c.5720A>G	46	1907	cb EGF-like #28	Ca2+ binding	Small rearrangement	Ts	A->G	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 859 UKD05LON F0067 I01 NA Heterozygous U.K. NA 96 2682 FRA01BOU F0945 I0981 Male Heterozygous FRANCE NA 207
p.Asn2144Ser	c.6431A>G	52	2144	cb EGF-like #32	Ca2+ binding	Small rearrangement	Ts	A->G	10
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 14 UKD02OXF F0001 I0733 Male Heterozygous U.K. Type V 8 1116 GER03HAN F0053 I01 NA Heterozygous GERMANY NA 133 1612 FRA01BOU F0364 I0402 Male Heterozygous FRANCE NA 145 1644 FRA01BOU F0437 I0474 Female Heterozygous FRANCE NA 145 1668 JAP07TOK F0001 I0001 Female Heterozygous JAPAN NA 151 1941 CHI01HKO F0019 I0001 NA Heterozygous CHINA NA 181 2294 FRA01BOU F0550 I0587 NA Heterozygous FRANCE NA 207 2346 FRA01BOU F0602 I0639 Male Heterozygous FRANCE NA 207 2353 FRA01BOU F0610 I0647 Male Heterozygous FRANCE NA 207 2583 FRA01BOU F0841 I0877 Female Heterozygous FRANCE NA 207
p.Asn2526Ser	c.7577A>G	61	2526	cb EGF-like #40	Ca2+ binding	Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1421 UKD05LON F0184 I01 NA Heterozygous U.K. NA 96
p.Asn2624Ser	c.7871A>G	63	2624	cb EGF-like #42	Ca2+ binding	Small rearrangement	Ts	A->G	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 326 GER01BER F0018 I73 Female Heterozygous GERMANY NA 82 1649 FRA01BOU F0441 I0478 Female Heterozygous FRANCE NA 145 2247 FRA01BOU F0502 I0539 Male Heterozygous FRANCE NA 207
p.Asn2708Ser	c.8123A>G	64	2708	COOH unique region		Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1946 CHI01HKO F0024 I0001 NA Heterozygous CHINA NA 181
p.Asn2740Ser	c.8219A>G	64	2740	FibuCTDIII-like motif		Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2698 FRA01BOU F0963 I0999 Male Heterozygous FRANCE NA 207
p.Asn2767Ser	c.8300A>G	65	2767	FibuCTDIII-like motif	N-linked glycosylation	Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2525 FRA01BOU F0781 I0818 Female Heterozygous FRANCE NA 207