Variant Positiona AAb NTc Associated Study Design Population # of ind.d Total Study Size Reference
Tyr16Term 42417906 16a C>G MODY Unpublished results UNKNOWN 1 family UNKNOWN Ellard, et al 2006[8]
Ser34Term 42468124 43 C>A MODY Screening study European Caucasians 3 (1) 48 HNF1 neg Pearson, et al 2005[37]
t-del 75 42468247   TtC MODY Screening/family study Danish 6 (6) 20 MODY/10 non-MODY Moller, et al 1999[38]
aa-del 99 42469466   CaaG MODY Single family case study Swedish   1 family Lehto, et al 1999[39]
Arg154Term 42475850 163 C>T MODY Multi-family study German 6 (6) 12 families Lindler, et al 1997[40]
Asp206Tyr 42476711 215 G>T MODY Screening study European Caucasians 5 (5) 48 HNF1 neg Pearson, et al 2005[37]
IVS-5 42476717   G>A MODY Screening study European Caucasians 1 (1) 48 HNF1 neg Pearson, et al 2005[37]
Arg244Gln 42481796 253 G>A MODY Case study Japanese 2 (2) 3 (single family) Hara, et al 2002[36]
Gln268Term 42481867 277 C>T MODY Single family case study US Caucasians 51 (42) 93 (single pedigree) Yamagata, et al 1996[4]
Glu276Gln 42481893 285 G>C MODY Single family case study UK 7 (5) 12 (single pedigree) Bulman, et al 1997[41]
Arg301Gln 42486108 310 G>A MODY MODY recruitment Danish 1 family 78 + 351 family members Johansen, et al 2005[7]
Ile314Phe 42486146 323 A>T MODY Screening study European Caucasians 2 (2) 28 HNF1 neg Pearson, et al 2005[37]
Val393Ile 42490463 402 G>A MODY NIDDM pedigrees French 1 (1) 19 families Hani, et al 1998[42]
Pro436Ser 42491627 445 C>T MODY Atypical T1D Mediterraneans 1 (1) 8 atypical T1D Aguilera, et al 2004[43]
IVS-1 42433044   A>C T2D Case/Control Finnish MAF 0.34 786 case/619 ctrl Bonnycastle, et al 2006[15]
P2Del 42463359     T2D 182 Diabetic with Nephropathy US Caucasian 6 (5) 188 (182 + fam) Price et al 2000[11]
Gly115Ser 42469514 124 G>A T2D Multi-family study US/Canadian Caucasians 6 (6) 53 families Malecki, et al 1999[22]
Asp126His 42475765 135 G>C T2D EOT2D vs T1D/T2D ctrl Mexican 1*(1) 40 EOT2D /      20 T1D / 20 T2D Aguilar-Salinas, et al 2001[23]
Asp126Tyr 42475765 135 G>T T2D EOT2D vs T1D/T2D ctrl Mexican 1*(1) 40 EOT2D /      20 T1D / 20 T2D Aguilar-Salinas, et al 2001[23]
Thr130Ile 42475778 139 C>T T2D Case/control Japanese 2 (2) 100 case/ 100 ctrl Sakurai, et al 2000[44]
Arg154Gln 42475849 163 G>A T2D EOT2D vs T1D/T2D ctrl Mexican 1 (1) 40 EOT2D /      20 T1D / 20 T2D Aguilar-Salinas, et al 2001[23]
IVS-4 42476557   G>A T2D Single family case study Filipino 3 (3) UNKNOWN Gragnoli, et al 2004[24]
Val160Ile 42476573 169 G>A T2D Single family case study Filipino 3 (3) 3 (single family) Gragnoli, et al 2004[24]
Arg324His 42486177 333 G>A T2D 182 Diabetic with Nephropathy US Caucasian 1 (1) 182 unrelated Price, et al 2000[11]
Met364Arg 42486267 373 T>G T2D Multi-family study European Caucasians 5 (5) 15 families (108 individuals) Pearson, et al 2007[45]
Met 398Thr 42490452 398 T>C T2D Screening study Japanese 1 (1) 74 T2D cases Fukushima-Uesaka, et al 2006[14]
Ile454Val 42491681 463 A>G T2D Multi-family study US/Canadian Caucasians 4 (3) 53 families Malecki, et al 1999[22]
Pro430Leu 42491583 430 C>T N/A         rs6031602
aPosition refers to the genomic location on Chromosome 20, as determined in HG19/feb2009.
b
Amino Acid change, NP_787110.2 (except for Tyr16Term, which comes from an alternative isoform of the gene: NP_000448.3).
c Nucleotide change.
d
Number of individuals with the mutation (number of mutation carriers with the phenotype of interest).
*These are the same individual, who had two different mutations at the same codon. EOT2D: Early-onset Type 2 diabetes. N/A: not applicable
Table 1: Characteristics of reported HNF4α variants.