Table 2

 Molecular genetics characteristics of the 10 novel HNF-1β mutations

Mutation
V61GV110GS148LK156EQ176XR276QS281fsinsCR295PH324S325fsdelCAQ470X
NA, not applicable.
*Nomenclature is based on reference sequence NM_000458 where nucleotide 1 is the first nucleotide of the promoter which is non-coding. The coding sequence starts at nucleotide 195 in exon 1.
FamilyDUK1094DUK739DUK1285DUK671DUK1080DUK802DUK1027DUK972DUK952DUK950
number
Nucleotidec.376T>Gc.523T>Gc.637C>Tc.660A>Gc.720C>Tc.1021G>Ac.1034^1035insCc.1078G>Cc.1166_1167delCAc.1602C>T
change*
Amino acidGTC>GGCGTG>GGGTCG>TTGAAG>GAGCAA>TAACGA>CAAS281fsinsCCGT>CCTH324S325fsdelCACAG>TAG
change
MutationMissenseMissenseMissenseMissenseNonsenseMissenseFrameshiftMissenseFrameshiftNonsense
type
Conser-YesYesYesYesNAYesNAYesNANA
vation of
amino acid
in mouse
and rat
De novo mutationNAYesYesYesNoNoNoNANoNo