NucleaRDB: Point mutations extracted from the literature - VDR_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.

ProteinVDR_HUMAN (VDR,NR1I)Swiss-Prot
Cross-reference table
Family page
Family alignments 1I1 Vitamin D3 (VDR)
1I Vitamin D3-like (VDR,PXR,CAR)
1 Thyroid hormone like (TR,RAR,ROR,PPAR,VDR

MutationLocationGeneral numberingReference
E2AN-term Jurutka PW et al., Mol Endocrinol 2000Medline
R18AN-term Jurutka PW et al., Mol Endocrinol 2000Medline
R22AN-term Jurutka PW et al., Mol Endocrinol 2000Medline
R22KN-term Jurutka PW et al., Mol Endocrinol 2000Medline
K45ADNA_BINDD022Toell A et al., J Cell Biochem 1999Medline
K45ADNA_BINDD022Kahlen JP et al., Nucleic Acids Res 1997Medline
K45EDNA_BINDD022Nguyen TM et al., J Biol Chem 2004Medline
K45EDNA_BINDD022Kahlen JP et al., Nucleic Acids Res 1997Medline
S51ADNA_BINDD028Barletta F et al., Mol Endocrinol 2002Medline
K91AHINGE Toell A et al., J Cell Biochem 1999Medline
E98KHINGE Hsieh JC et al., Biochemistry 1999Medline
E99KHINGE Hsieh JC et al., Biochemistry 1999Medline
R102AHINGE Hsieh JC et al., Biochemistry 1999Medline
K103AHINGE Hsieh JC et al., Biochemistry 1999Medline
R104AHINGE Hsieh JC et al., Biochemistry 1999Medline
K109AHINGE Hsieh JC et al., Biochemistry 1999Medline
R110AHINGE Hsieh JC et al., Biochemistry 1999Medline
K111AHINGE Hsieh JC et al., Biochemistry 1999Medline
R121HINGE Jurutka PW et al., J Biol Chem 1993Medline
K123AHINGE Toell A et al., J Cell Biochem 1999Medline
N160Loop 1-3 Jones BB et al., Mol Endocrinol 1991Medline
S208Loop 1-3 Jurutka PW et al., J Biol Chem 1993Medline
S208ALoop 1-3 Barletta F et al., Mol Endocrinol 2002Medline
S225ALBD HELIX 3330Kraichely DM et al., J Biol Chem 1999Medline
S225ALBD HELIX 3330Mohr SC et al., Steroids 2001Medline
H229ALBD HELIX 3334Kraichely DM et al., J Biol Chem 1999Medline
H229ALBD HELIX 3334Mohr SC et al., Steroids 2001Medline
D232LBD HELIX 3337Kraichely DM et al., J Cell Biochem 1999Medline
D232ALBD HELIX 3337Kraichely DM et al., J Biol Chem 1999Medline
D232ALBD HELIX 3337Mohr SC et al., Steroids 2001Medline
L233ALBD HELIX 3338Verlinden L et al., J Biol Chem 2003Medline
V234ALBD HELIX 3339Mohr SC et al., Steroids 2001Medline
V234ALBD HELIX 3339Verlinden L et al., J Biol Chem 2003Medline
S235ALBD HELIX 3340Kraichely DM et al., J Biol Chem 1999Medline
S235ALBD HELIX 3340Mohr SC et al., Steroids 2001Medline
Y236ALBD HELIX 3341Kraichely DM et al., J Biol Chem 1999Medline
Y236ALBD HELIX 3341Mohr SC et al., Steroids 2001Medline
S237ALBD HELIX 3342Yamamoto K et al., Proc Natl Acad Sci U S A 2000Medline
S237ALBD HELIX 3342Mohr SC et al., Steroids 2001Medline
K240ALBD HELIX 3345Kraichely DM et al., J Biol Chem 1999Medline
K240ALBD HELIX 3345Yamamoto K et al., Proc Natl Acad Sci U S A 2000Medline
K240ALBD HELIX 3345Mohr SC et al., Steroids 2001Medline
I242ALBD HELIX 3347Mohr SC et al., Steroids 2001Medline
F244LBD HELIX 3349Whitfield GK et al., Mol Endocrinol 1995Medline
F244GLBD HELIX 3349Mohr SC et al., Steroids 2001Medline
K246LBD HELIX 3351Whitfield GK et al., Mol Endocrinol 1995Medline
K246ALBD HELIX 3351Mohr SC et al., Steroids 2001Medline
F251CLoop 3-4 Malloy PJ et al., Mol Genet Metab 2001Medline
L254Loop 3-4 Whitfield GK et al., Mol Endocrinol 1995Medline
L254GLoop 3-4 Mohr SC et al., Steroids 2001Medline
Q259LBD HELIX 4451Whitfield GK et al., Mol Endocrinol 1995Medline
L262LBD HELIX 4454Whitfield GK et al., Mol Endocrinol 1995Medline
L262GLBD HELIX 4454Chen S et al., J Biol Chem 1999Medline
I268ALBD HELIX 5549Verlinden L et al., J Biol Chem 2003Medline
I271ALBD HELIX 5552Verlinden L et al., J Biol Chem 2003Medline
R274ALBD HELIX 5555Verlinden L et al., J Biol Chem 2003Medline
R274LLBD HELIX 5555Yamamoto K et al., Proc Natl Acad Sci U S A 2000Medline
R274LLBD HELIX 5555Mohr SC et al., Steroids 2001Medline
S275ALBD HELIX 5556Yamamoto K et al., Proc Natl Acad Sci U S A 2000Medline
S275ALBD HELIX 5556Mohr SC et al., Steroids 2001Medline
S275ALBD HELIX 5556Verlinden L et al., J Biol Chem 2003Medline
S278ALBD HELIX 5559Vaisanen S et al., Biochem Biophys Res Commun 1999Medline
S278ALBD HELIX 5559Yamamoto K et al., Proc Natl Acad Sci U S A 2000Medline
S278ALBD HELIX 5559Verlinden L et al., J Biol Chem 2003Medline
F279ALBD HELIX 5560Vaisanen S et al., Biochem Biophys Res Commun 1999Medline
M284ALoop 5-6 Mohr SC et al., Steroids 2001Medline
M284SLoop 5-6 Mohr SC et al., Steroids 2001Medline
W286ALoop 5-6 Solomon C et al., J Bone Miner Res 2001Medline
W286ALoop 5-6 Mohr SC et al., Steroids 2001Medline
W286ALoop 5-6 Verlinden L et al., J Biol Chem 2003Medline
W286FLoop 5-6 Solomon C et al., J Bone Miner Res 2001Medline
W286FLoop 5-6 Mohr SC et al., Steroids 2001Medline
W286RLoop 5-6 Nguyen TM et al., J Biol Chem 2004Medline
C288ALoop 5-6 Yamamoto K et al., Proc Natl Acad Sci U S A 2000Medline
C288GLoop 5-6 Mohr SC et al., Steroids 2001Medline
D299ALBD HELIX 6649Mohr SC et al., Steroids 2001Medline
V300ALBD HELIX 6650Verlinden L et al., J Biol Chem 2003Medline
K302ALBD HELIX 6652Mohr SC et al., Steroids 2001Medline
H305ALoop 6-7 Verlinden L et al., J Biol Chem 2003Medline
I314SLBD HELIX 7743Whitfield GK et al., Mol Endocrinol 1996Medline
C337GLBD HELIX 8858Mohr SC et al., Steroids 2001Medline
C369GLBD HELIX 9956Mohr SC et al., Steroids 2001Medline
K382ELBD HELIX 10-111042Chen S et al., J Biol Chem 1999Medline
M383GLBD HELIX 10-111043Chen S et al., J Biol Chem 1999Medline
I384RLBD HELIX 10-111044Chen S et al., J Biol Chem 1999Medline
Q385KLBD HELIX 10-111045Chen S et al., J Biol Chem 1999Medline
Q385RLBD HELIX 10-111045Chen S et al., J Biol Chem 1999Medline
K386ALBD HELIX 10-111046Chen S et al., J Biol Chem 1999Medline
K386QLBD HELIX 10-111046Mohr SC et al., Steroids 2001Medline
K386QLBD HELIX 10-111046Masuyama H et al., Mol Endocrinol 1997Medline
L390GLBD HELIX 10-111050Chen S et al., J Biol Chem 1999Medline
R391CLBD HELIX 10-111051Whitfield GK et al., Mol Endocrinol 1996Medline
R391QLBD HELIX 10-111051Masuyama H et al., Mol Endocrinol 1997Medline
H397ALBD HELIX 10-111057Yamamoto K et al., Proc Natl Acad Sci U S A 2000Medline
H397ALBD HELIX 10-111057Verlinden L et al., J Biol Chem 2003Medline
Y401ALBD HELIX 10-111061Verlinden L et al., J Biol Chem 2003Medline
L417ALBD HELIX 121247Mohr SC et al., Steroids 2001Medline
L417ALBD HELIX 121247Masuyama H et al., Mol Endocrinol 1997Medline
L417SLBD HELIX 121247Mohr SC et al., Steroids 2001Medline
L417SLBD HELIX 121247Barletta F et al., Mol Endocrinol 2002Medline
L417SLBD HELIX 121247Masuyama H et al., Mol Endocrinol 1997Medline
V418ALBD HELIX 121248Kahlen JP et al., Nucleic Acids Res 1997Medline
V418ALBD HELIX 121248Nayeri S et al., Biochem J 1997Medline
V418SLBD HELIX 121248Mohr SC et al., Steroids 2001Medline
L419ALBD HELIX 121249Kahlen JP et al., Nucleic Acids Res 1997Medline
L419ALBD HELIX 121249Nayeri S et al., Biochem J 1997Medline
E420ALBD HELIX 121250Mohr SC et al., Steroids 2001Medline
E420ALBD HELIX 121250Masuyama H et al., Mol Endocrinol 1997Medline
E420ALBD HELIX 121250Nayeri S et al., Biochem J 1997Medline
E420QLBD HELIX 121250Mohr SC et al., Steroids 2001Medline
E420QLBD HELIX 121250Masuyama H et al., Mol Endocrinol 1997Medline
V421ALBD HELIX 121251Nayeri S et al., Nucleic Acids Res 1996Medline
V421ALBD HELIX 121251Nayeri S et al., Biochem J 1997Medline
F422ALBD HELIX 121252Nayeri S et al., Nucleic Acids Res 1996Medline
F422ALBD HELIX 121252Nayeri S et al., Biochem J 1997Medline
G423AC-term Nayeri S et al., Nucleic Acids Res 1996Medline
G423AC-term Nayeri S et al., Biochem J 1997Medline
N424AC-term Nayeri S et al., Biochem J 1997Medline
E425QC-term Mohr SC et al., Steroids 2001Medline
E425QC-term Masuyama H et al., Mol Endocrinol 1997Medline

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