Skip to main content
. Author manuscript; available in PMC: 2009 Dec 1.
Published in final edited form as: Diabetologia. 2009 Apr 18;52(6):1208–1211. doi: 10.1007/s00125-009-1345-4

Table 1.

Non-synonymous variants found in the IRS2 gene of participants with severe insulin resistance (total SIR, n=161; Europid SIR, n=114) and Europid controls (n=173)

Participant Phenotype SNP PolyPhena / SIFTb Genotype Ethnicity Fasting
glucose
(mmol/l)
Fasting
insulin
(pmol/l)
BMI
(kg/m2)
SIR1 SIR,
pseudoacromegaly
c.233G>A
p.S78N
Benign / Tolerated GA Asian 5.6 212 44.6
SIR2 SIR,
pseudoacromegaly
c.1498C>G
p.L500V
Benign / Tolerated CG Asian 6.0 264 39.7
SIR3 SIR
short stature
c.1570A>G
p.I524V
Benign / Affect
protein function
AG Turkish 4.9 1358 19
SIR4 SIR,
pseudoacromegaly
c.2485C>T
p.P829S
Benign / Tolerated CT Ashkena
zy
5.1 507 25.5
SIR5 SIR c.2566G>A
p.A856T
Benign / Tolerated GA Europid 4.7 333 28
SIR6 SIR
FPLD1
c.2834C>T
p.S945F
Benign / Affect
protein function
CT Europid 5.5 155 obese
SIR7 SIR,
pseudoacromegaly
c.3424G>C
p.G1142R
Possibly damaging
/ Affect protein
function
GC Europid 8.5 880 47.3
SIR8 SIR,
pseudoacromegaly
c.3983A>G
p.H1328R
Possibly damaging
/ Affect protein
function
AG Europid 6.8 246 37.3
Control 1 Healthy volunteer c.1379C>T
p.P460L
and
c.3983A>G
p.H1328R
Benign / Possibly
damaging
CT Europid 5.5 47 24.6
Control 2 Healthy volunteer c.3400A>G
p.K1134E
Benign / Affect
protein function
AG Europid 5.1 65 31.7
Control 3 Healthy volunteer c.3788G>T
p.G1263V
Probably damaging
/ Affect protein
function
GT Europid 6.4 43 24.3
Control 4 Healthy volunteer c.3983A>G
p.H1328R
Possibly damaging
/ Affect protein
function
AG Europid 4.9 45 23.4
a

PolyPhen predicts the possible impact of an amino acid substitution on the structure and function of a protein based on physical and comparative considerations

b

SIFT predicts whether an amino acid substitution affects protein function based on sequence homology and the physical properties of amino acids

FPLD1, familial partial lipodystrophy type 1, Online Mendelian Inheritance in Man (OMIM) (http://www.ncbi.nlm.nih.gov/omim) database ID: 608600; IR, insulin resistance