The
UMD-FBN1
mutations database
Tyr to Ser mutations
Protein nomenclature
cDNA Nomenclature
Exon
Codon
Structure
HCD
Rearrangement
Mutation type
Mutational event
# records
p.Tyr458Ser
c.1373A>C
11
458
EGF-like #04
Small rearrangement
Tv
A->C
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
182
FRA01BOU F0107 I0145
Male
Heterozygous
FRANCE
NA
64