NucleaRDB: Point mutations extracted from the literature - DAX1_HUMAN

logo    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.

ProteinDAX1_HUMAN (NR0B1,AHC, DAX)Swiss-Prot
Cross-reference table
Family page
Family alignments 0B1 DAX
0B DAX like (DAX,SHP) (no DBD)

MutationLocationGeneral numberingReference
Y81XN-term Zhang YH et al., Hum Mutat 2001Medline
Q224AN-term Lehmann SG et al., Proc Natl Acad Sci U S A 2002Medline
R267ALBD HELIX 3348Lalli E et al., Mol Cell Biol 2000Medline
R267ALBD HELIX 3348Lehmann SG et al., Proc Natl Acad Sci U S A 2002Medline
R267ALBD HELIX 3348Lalli E et al., Mol Endocrinol 1997Medline
R267PLBD HELIX 3348Altincicek B et al., J Biol Chem 2000Medline
R267PLBD HELIX 3348Lalli E et al., Mol Cell Biol 2000Medline
R267PLBD HELIX 3348Achermann JC et al., J Clin Endocrinol Metab 2001Medline
R267PLBD HELIX 3348Holter E et al., Mol Endocrinol 2002Medline
R267PLBD HELIX 3348Lehmann SG et al., Proc Natl Acad Sci U S A 2002Medline
R267PLBD HELIX 3348Ito M et al., Mol Cell Biol 1997Medline
R267PLBD HELIX 3348Lalli E et al., Mol Endocrinol 1997Medline
V269ALBD HELIX 3350Lalli E et al., Mol Endocrinol 1997Medline
R288ALBD HELIX 4456Lehmann SG et al., Proc Natl Acad Sci U S A 2002Medline
L295PLBD HELIX 5552Zhang YH et al., Hum Mutat 2001Medline
A300PLBD HELIX 5557Achermann JC et al., J Clin Endocrinol Metab 2001Medline
A300VLBD HELIX 5557Achermann JC et al., J Clin Endocrinol Metab 2001Medline
E377KLBD HELIX 8850Achermann JC et al., J Clin Endocrinol Metab 2001Medline
Y380DLBD HELIX 8853Mantovani G et al., J Clin Endocrinol Metab 2002Medline
L381HLBD HELIX 8854Mantovani G et al., J Clin Endocrinol Metab 2002Medline
R425GLBD HELIX 10-111039Achermann JC et al., J Clin Endocrinol Metab 2001Medline
R425TLBD HELIX 10-111039Achermann JC et al., J Clin Endocrinol Metab 2001Medline
R425TLBD HELIX 10-111039Zhang YH et al., Hum Mutat 2001Medline
E428XLBD HELIX 10-111042Zhang YH et al., Hum Mutat 2001Medline
I439SLBD HELIX 10-111053Achermann JC et al., J Clin Endocrinol Metab 2001Medline
I439SLBD HELIX 10-111053Mantovani G et al., J Clin Endocrinol Metab 2002Medline
I439SLBD HELIX 10-111053Lehmann SG et al., Proc Natl Acad Sci U S A 2002Medline
N440ALBD HELIX 10-111054Lehmann SG et al., Proc Natl Acad Sci U S A 2002Medline
N440ILBD HELIX 10-111054Lalli E et al., Mol Cell Biol 2000Medline
N440ILBD HELIX 10-111054Lehmann SG et al., Proc Natl Acad Sci U S A 2002Medline
F449DLoop 11-12 Achermann JC et al., J Clin Endocrinol Metab 2001Medline
M461ALBD HELIX 121247Lehmann SG et al., Proc Natl Acad Sci U S A 2002Medline
M462ALBD HELIX 121248Lehmann SG et al., Proc Natl Acad Sci U S A 2002Medline
E464RLBD HELIX 121250Lehmann SG et al., Proc Natl Acad Sci U S A 2002Medline
M465ALBD HELIX 121251Lehmann SG et al., Proc Natl Acad Sci U S A 2002Medline
L466ALBD HELIX 121252Lehmann SG et al., Proc Natl Acad Sci U S A 2002Medline
L466RLBD HELIX 121252Achermann JC et al., J Clin Endocrinol Metab 2001Medline
L466RLBD HELIX 121252Lehmann SG et al., Proc Natl Acad Sci U S A 2002Medline
L466RLBD HELIX 121252Mizusaki H et al., Mol Endocrinol 2003Medline
L466RLBD HELIX 121252Kawajiri K et al., Mol Endocrinol 2003Medline
C467SC-term Achermann JC et al., J Clin Endocrinol Metab 2001Medline

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