Family identity number . | Location . | Nucleotide . | . | Amino acid . | . | Number of carriers . | Diabetes status† . | Age (years) at onset . | . | |||
---|---|---|---|---|---|---|---|---|---|---|---|---|
. | . | Position* . | Change . | Change . | Codon . | . | . | Mean . | Range . | |||
Dimerization and DNA binding domains‡ | ||||||||||||
01 | Exon 1 | 70 | GA deletion | Frameshift | 24 | 4 | 4/-/- | 20 | 14–28 | |||
02 | Exon 1 | 130 | C deletion | Frameshift | 44 | 4 | 4/-/- | 11 | 10–13 | |||
03 | Exon 1 | 320 | T→G | Leu→Arg | 107 | 16 | 16/-/- | 19 | 9–37 | |||
04 | Exon 2 | 21 | C→T | Ala→Val | 116 | 9 | 8/-/1 | 29 | 13–48 | |||
05 | Exon 2 | 64 | C→T | Arg→Trp | 131 | 11 | 9/1/1 | 21 | 11–41 | |||
06 | Exon 2 | 110 | C→A | Gln→Lys | 146 | 5 | 5/-/- | 15 | 10–24 | |||
114 | A→G | His→Arg | 147 | |||||||||
07 | Exon 4 | 5 | G→C | Glu→Gln | 240 | 8 | 4/2/1 | 25 | 19–35 | |||
08 | Exon 4 | 102 | G→A | Arg→His | 272 | 6 | 6/-/- | 22 | 17–34 | |||
Transactivation domain‡ | ||||||||||||
09 | Exon 4 | 159 | C deletion | Frameshift | 291 | 3 | 3/-/- | 13 | 10–18 | |||
10 | Exon 4 | 159 | C insertion | Frameshift | 291 | 13 | 13/-/- | 20 | 8–48 | |||
11 | Exon 4 | 159 | C insertion | Frameshift | 291 | 5 | -/4/1§ | — | —§ | |||
12 | Exon 6 | 29 | CT deletion | Frameshift | 379 | 6 | 6/-/- | 19 | 13–26 | |||
13 | Exon 7 | 19 | CA deletion | Frameshift | 443 | 12 | 9/2/1 | 31 | 16–49 | |||
Total | 101 | 87/9/5 | 21 | 8–49 |
Family identity number . | Location . | Nucleotide . | . | Amino acid . | . | Number of carriers . | Diabetes status† . | Age (years) at onset . | . | |||
---|---|---|---|---|---|---|---|---|---|---|---|---|
. | . | Position* . | Change . | Change . | Codon . | . | . | Mean . | Range . | |||
Dimerization and DNA binding domains‡ | ||||||||||||
01 | Exon 1 | 70 | GA deletion | Frameshift | 24 | 4 | 4/-/- | 20 | 14–28 | |||
02 | Exon 1 | 130 | C deletion | Frameshift | 44 | 4 | 4/-/- | 11 | 10–13 | |||
03 | Exon 1 | 320 | T→G | Leu→Arg | 107 | 16 | 16/-/- | 19 | 9–37 | |||
04 | Exon 2 | 21 | C→T | Ala→Val | 116 | 9 | 8/-/1 | 29 | 13–48 | |||
05 | Exon 2 | 64 | C→T | Arg→Trp | 131 | 11 | 9/1/1 | 21 | 11–41 | |||
06 | Exon 2 | 110 | C→A | Gln→Lys | 146 | 5 | 5/-/- | 15 | 10–24 | |||
114 | A→G | His→Arg | 147 | |||||||||
07 | Exon 4 | 5 | G→C | Glu→Gln | 240 | 8 | 4/2/1 | 25 | 19–35 | |||
08 | Exon 4 | 102 | G→A | Arg→His | 272 | 6 | 6/-/- | 22 | 17–34 | |||
Transactivation domain‡ | ||||||||||||
09 | Exon 4 | 159 | C deletion | Frameshift | 291 | 3 | 3/-/- | 13 | 10–18 | |||
10 | Exon 4 | 159 | C insertion | Frameshift | 291 | 13 | 13/-/- | 20 | 8–48 | |||
11 | Exon 4 | 159 | C insertion | Frameshift | 291 | 5 | -/4/1§ | — | —§ | |||
12 | Exon 6 | 29 | CT deletion | Frameshift | 379 | 6 | 6/-/- | 19 | 13–26 | |||
13 | Exon 7 | 19 | CA deletion | Frameshift | 443 | 12 | 9/2/1 | 31 | 16–49 | |||
Total | 101 | 87/9/5 | 21 | 8–49 |
Nucleotide number from 5′ end of each exon;
diabetes status (diagnosed diabetes/impaired glucose tolerance at study examination or gestational diabetes/normoglycemic at examination without a previous diagnosis of diabetes or gestational diabetes;
HNF-1α has three distinct domains 1) a dimerization domain comprising the first 33 codons, 2) a DNA binding domain defined by codons 100–280, and 3) a transactivation domain that consists of the remaining 351 codons (10);
two individuals with diabetes diagnosed previously had only impaired glucose tolerance at examination for this study. The age of the five carriers at examination ranged from 16 to 40 years. Mutations in families 03, 05, 08, and 10 were described in a previous publication (18).