The
UMD-FBN1
mutations database
Arg to Ser mutations
Protein nomenclature
cDNA Nomenclature
Exon
Codon
Structure
HCD
Rearrangement
Mutation type
Mutational event
# records
p.Arg1915Ser
c.5743C>A
46
1915
cb EGF-like #28
Ca2+ binding
Small rearrangement
Tv
C->A
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
381
BEL01GHE F0017 I2066
Male
Heterozygous
BELGIUM
NA
89