The
UMD-FBN1
mutations database
Leu to Stop mutations
Protein nomenclature
cDNA Nomenclature
Exon
Codon
Structure
HCD
Rearrangement
Mutation type
Mutational event
# records
p.Leu74X
c.221T>A
2
74
4-cys motif LTBP-like
Small rearrangement
Tv
T->A
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
3173
USA19NAS F0001 I0001
Male
Heterozygous
U.S.A.
NA
247