The
UMD-FBN1
mutations database
Arg to Lys mutations
Protein nomenclature
cDNA Nomenclature
Exon
Codon
Structure
HCD
Rearrangement
Mutation type
Mutational event
# records
p.Arg1969Lys
c.5906G>A
47
1969
cb EGF-like #29
Small rearrangement
Ts
G->A
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
3107
UKD09SAL F0029 I0001
NA
Heterozygous
U.K.
NA
242