NucleaRDB: Point mutations extracted from the literature - PPAR_HUMAN

2005, NucleaRDB.

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.

Protein	PPAR_HUMAN (PPARA,NR1C1, PPA)	Swiss-Prot Cross-reference table Family page
Family alignments	1C1 PPAR alpha 1C Peroxisome proliferator activated (PPAR) 1 Thyroid hormone like (TR,RAR,ROR,PPAR,VDR

Mutation Location General numbering Reference
P22R N-term Hara M et al., J Hum Genet 2001 Medline

D140Y DNA_BIND D039 Hara M et al., J Hum Genet 2001 Medline

L162L DNA_BIND D061 Eurlings PM et al., Mol Genet Metab 2002 Medline

L162V DNA_BIND D061 Eurlings PM et al., Mol Genet Metab 2002 Medline

L162V DNA_BIND D061 Nielsen EM et al., Pharmacogenetics 2003 Medline

L162V DNA_BIND D061 Bosse Y et al., Obes Res 2003 Medline

L162V DNA_BIND D061 Bosse Y et al., J Hum Genet 2003 Medline

R178G HINGE Nielsen EM et al., Pharmacogenetics 2003 Medline

V227A Loop 1-3 Hara M et al., J Hum Genet 2001 Medline

V227A Loop 1-3 Ishiguro H et al., Am J Med Genet 2002 Medline

S234G Loop 1-3 Eurlings PM et al., Mol Genet Metab 2002 Medline

A268V Loop 1-3 Nielsen EM et al., Pharmacogenetics 2003 Medline

I272F LBD HELIX 3 331 Miyachi H et al., Bioorg Med Chem Lett 2003 Medline

T279M LBD HELIX 3 338 Miyachi H et al., Bioorg Med Chem Lett 2003 Medline

Mutation	Location	General numbering	Reference
P22R	N-term		Hara M et al., J Hum Genet 2001	Medline
D140Y	DNA_BIND	D039	Hara M et al., J Hum Genet 2001	Medline
L162L	DNA_BIND	D061	Eurlings PM et al., Mol Genet Metab 2002	Medline
L162V	DNA_BIND	D061	Eurlings PM et al., Mol Genet Metab 2002	Medline
L162V	DNA_BIND	D061	Nielsen EM et al., Pharmacogenetics 2003	Medline
L162V	DNA_BIND	D061	Bosse Y et al., Obes Res 2003	Medline
L162V	DNA_BIND	D061	Bosse Y et al., J Hum Genet 2003	Medline
R178G	HINGE		Nielsen EM et al., Pharmacogenetics 2003	Medline
V227A	Loop 1-3		Hara M et al., J Hum Genet 2001	Medline
V227A	Loop 1-3		Ishiguro H et al., Am J Med Genet 2002	Medline
S234G	Loop 1-3		Eurlings PM et al., Mol Genet Metab 2002	Medline
A268V	Loop 1-3		Nielsen EM et al., Pharmacogenetics 2003	Medline
I272F	LBD HELIX 3	331	Miyachi H et al., Bioorg Med Chem Lett 2003	Medline
T279M	LBD HELIX 3	338	Miyachi H et al., Bioorg Med Chem Lett 2003	Medline

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