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. Author manuscript; available in PMC: 2009 May 11.
Published in final edited form as: Hum Mol Genet. 2007 Jul 17;17(5):631–641. doi: 10.1093/hmg/ddm188

Table 1.

Nonsense mutations identified in the coding region of FLNBa

Patient DNA mutation Exon Amino acid substitution Filamin B domain
1b c.1945C > T 13 p.Arg649X 5
2b,c c.2452C > T and c.4819C > T 16 and 28 p.Arg818X and p.Arg1607X 6 and 14
3b c.6408delC 39 p.Ser2137LeufsX4 20
4b,c c.7029T > G 43 p.Tyr2343X 22
5 c.5548G > T 33 p.Gly1850X 17
6c c.1945C > T and c.4671G > A 13 and 27 p.Arg649X and p.Ser1505ArgfsX33 5 and 14
7 c.6010C > T 36 p.Arg2004X 19
a

The cDNA sequence of FLNB was based on GenBank number NM_001457 and nucleotide numbering is from the start of translation (i.e. +1 corresponds to A of the ATG translation initiation codon in the reference sequence and the initiation codon is codon 1).

b

Mutations previously reported (4).

c

Patient samples used in filamin B expression studies.