The
UMD-FBN1
mutations database
Arg to Ile mutations
Protein nomenclature
cDNA Nomenclature
Exon
Codon
Structure
HCD
Rearrangement
Mutation type
Mutational event
# records
p.Arg636Ile
c.1907G>T
15
636
cb EGF-like #06
Ca2+ binding
Small rearrangement
Tv
G->T
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
159
ITA02PAV F0002 I01
NA
Heterozygous
ITALIA
NA
47