NucleaRDB: Point mutations extracted from the literature - PPAT_HUMAN

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This data was extracted from medline abstracts and full text papers (when available) in an automated manner.

Each point mutation is linked to the entry specific to the residue position. Citations are linked to the list of point mutations found in the corresponding articles. The last column allows you to go back to the original text via Medline.

ProteinPPAT_HUMAN (PPARG,NR1C)Swiss-Prot
Cross-reference table
Family page
Protein isoforms2
Family alignments 1C3 PPAR gamma
1C Peroxisome proliferator activated (PPAR)
1 Thyroid hormone like (TR,RAR,ROR,PPAR,VDR

MutationLocationGeneral numberingReference
G6PN-term Boustead JN et al., Biochem J 2003Medline
P12AN-term Evans D et al., Exp Clin Endocrinol Diabetes 2001Medline
P12AN-term Schaffler A et al., Endocrine 2001Medline
P12AN-term Witchel SF et al., Fertil Steril 2001Medline
P12AN-term Ek J et al., Diabetologia 2001Medline
P12AN-term Zietz B et al., Exp Clin Endocrinol Diabetes 2002Medline
P12AN-term Tomita S et al., Int J Mol Med 2002Medline
P12AN-term Ardlie KG et al., Am J Hum Genet 2002Medline
P12AN-term Lindi VI et al., Diabetes 2002Medline
P12AN-term Simon I et al., Horm Res 2002Medline
P12AN-term Vaccaro O et al., Clin Endocrinol (Oxf) 2002Medline
P12AN-term Ahluwalia M et al., Diabetes Obes Metab 2002Medline
P12AN-term Rosmond R et al., Diabetes Metab Res Rev 2003Medline
P12AN-term Li S et al., Diabetes 2003Medline
P12AN-term Bluher M et al., Exp Clin Endocrinol Diabetes 2003Medline
P12AN-term Gurnell M et al., J Clin Endocrinol Metab 2003Medline
P12AN-term Yang WS et al., Diabetologia 2003Medline
P12AN-term Iwata E et al., Diabetes Res Clin Pract 2003Medline
P12AN-term Bosse Y et al., J Hum Genet 2003Medline
P12AN-term Damcott CM et al., Metabolism 2004Medline
P12PN-term Lindi VI et al., Diabetes 2002Medline
S112AN-term Iwata M et al., Diabetes 2001Medline
C313SLBD HELIX 3335Lee G et al., J Biol Chem 2002Medline
V318MLBD HELIX 3340Hasstedt SJ et al., J Clin Endocrinol Metab 2001Medline
V318MLBD HELIX 3340Chatterjee V et al., Biochem Soc Trans 2001Medline
V318MLBD HELIX 3340Witchel SF et al., Fertil Steril 2001Medline
V318MLBD HELIX 3340Tamori Y et al., Diabetes 2002Medline
V318MLBD HELIX 3340Hegele RA et al., Diabetes 2002Medline
V318MLBD HELIX 3340Savage DB et al., Diabetes 2003Medline
V318MLBD HELIX 3340Bluher M et al., Exp Clin Endocrinol Diabetes 2003Medline
V318MLBD HELIX 3340Gurnell M et al., J Clin Endocrinol Metab 2003Medline
V318MLBD HELIX 3340Agostini M et al., Endocrinology 2004Medline
V321ALBD HELIX 3343Chen S et al., J Biol Chem 2000Medline
Q322ALBD HELIX 3344Chen S et al., J Biol Chem 2000Medline
E323ALBD HELIX 3345Chen S et al., J Biol Chem 2000Medline
T325ALBD HELIX 3347Chen S et al., J Biol Chem 2000Medline
E326ALBD HELIX 3348Chen S et al., J Biol Chem 2000Medline
K329ALBD HELIX 3351Chen S et al., J Biol Chem 2000Medline
V335ALoop 3-4 Chen S et al., J Biol Chem 2000Medline
D338ALBD HELIX 4447Chen S et al., J Biol Chem 2000Medline
L339ALBD HELIX 4448Chen S et al., J Biol Chem 2000Medline
N340ALBD HELIX 4449Chen S et al., J Biol Chem 2000Medline
Q342ALBD HELIX 4451Chen S et al., J Biol Chem 2000Medline
V343ALBD HELIX 4452Chen S et al., J Biol Chem 2000Medline
T344ALBD HELIX 4453Chen S et al., J Biol Chem 2000Medline
L345ALBD HELIX 4454Chen S et al., J Biol Chem 2000Medline
L346ALBD HELIX 4455Chen S et al., J Biol Chem 2000Medline
L346ALBD HELIX 4455Agostini M et al., Endocrinology 2004Medline
K347ALBD HELIX 4456Chen S et al., J Biol Chem 2000Medline
Y348ALBD HELIX 4457Chen S et al., J Biol Chem 2000Medline
V350ALBD HELIX 5548Chen S et al., J Biol Chem 2000Medline
F388LLoop 6-7 Hegele RA et al., Diabetes 2002Medline
R425CLoop 8-9 Agarwal AK et al., J Clin Endocrinol Metab 2002Medline
R425CLoop 8-9 Hegele RA et al., Diabetes 2002Medline
P495LLBD HELIX 121246Hasstedt SJ et al., J Clin Endocrinol Metab 2001Medline
P495LLBD HELIX 121246Chatterjee V et al., Biochem Soc Trans 2001Medline
P495LLBD HELIX 121246Savage DB et al., Diabetes 2001Medline
P495LLBD HELIX 121246Witchel SF et al., Fertil Steril 2001Medline
P495LLBD HELIX 121246Tamori Y et al., Diabetes 2002Medline
P495LLBD HELIX 121246Savage DB et al., Diabetes 2003Medline
P495LLBD HELIX 121246Bluher M et al., Exp Clin Endocrinol Diabetes 2003Medline
P495LLBD HELIX 121246Gurnell M et al., J Clin Endocrinol Metab 2003Medline
P495LLBD HELIX 121246Agostini M et al., Endocrinology 2004Medline
L496ALBD HELIX 121247Chen S et al., J Biol Chem 2000Medline
L496ALBD HELIX 121247Gurnell M et al., J Biol Chem 2000Medline
L496ALBD HELIX 121247Nugent C et al., J Biol Chem 2001Medline
L496ALBD HELIX 121247Nugent C et al., Mol Endocrinol 2001Medline
L496ALBD HELIX 121247Bruemmer D et al., Eur J Pharmacol 2003Medline
L496ALBD HELIX 121247Verrier E et al., Circ Res 2004Medline
L497ALBD HELIX 121248Chen S et al., J Biol Chem 2000Medline
Q498ALBD HELIX 121249Chen S et al., J Biol Chem 2000Medline
E499ALBD HELIX 121250Chen S et al., J Biol Chem 2000Medline
E499ALBD HELIX 121250Gurnell M et al., J Biol Chem 2000Medline
E499ALBD HELIX 121250Nugent C et al., J Biol Chem 2001Medline
E499ALBD HELIX 121250Nugent C et al., Mol Endocrinol 2001Medline
E499ALBD HELIX 121250Wu Y et al., J Biol Chem 2003Medline
E499ALBD HELIX 121250Bruemmer D et al., Eur J Pharmacol 2003Medline
E499ALBD HELIX 121250Verrier E et al., Circ Res 2004Medline

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F.Horn (nucleardbcmbi.kun.nl), 21-Apr-2005