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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q08499: Variant p.Glu590Ala

3',5'-cyclic-AMP phosphodiesterase 4D
Gene: PDE4D
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Variant information Variant position: help 590
Type of variant: help LP/P [Disclaimer]
Residue change: help From Glutamate (E) to Alanine (A) at position 590 (E590A, p.Glu590Ala).
Physico-chemical properties: help Change from medium size and acidic (E) to small size and hydrophobic (A)
BLOSUM score: help -1
Variant description: help In ACRDYS2.


Sequence information Variant position: help 590
Protein sequence length: help 809
Location on the sequence: help VLATDMSKHMNLLADLKTMV E TKKVTSSGVLLLDNYSDRIQ
Residue conservation: help
Human                         VLATDMSKHMNLLADLKTMVETKKVTSSGVLLLDNYSDRIQ

Mouse                         VLATDMSKHMNLLADLKTMVETKKVTSSGVLLLDNYSDRIQ

Rat                           VLATDMSKHMNLLADLKTMVETKKVTSSGVLLLDNYSDRIQ

Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 809 3',5'-cyclic-AMP phosphodiesterase 4D
Domain 386 – 715 PDEase
Alternative sequence 280 – 809 Missing. In isoform N3.
Alternative sequence 284 – 809 Missing. In isoform 12.
Helix 578 – 590



Literature citations
Exome sequencing identifies PDE4D mutations in acrodysostosis.
Lee H.; Graham J.M. Jr.; Rimoin D.L.; Lachman R.S.; Krejci P.; Tompson S.W.; Nelson S.F.; Krakow D.; Cohn D.H.;
Am. J. Hum. Genet. 90:746-751(2012)
Cited for: VARIANTS ACRDYS2 GLU-228; ALA-590 AND ASP-673; PRKAR1A and PDE4D mutations cause acrodysostosis but two distinct syndromes with or without GPCR-signaling hormone resistance.
Linglart A.; Fryssira H.; Hiort O.; Holterhus P.M.; Perez de Nanclares G.; Argente J.; Heinrichs C.; Kuechler A.; Mantovani G.; Leheup B.; Wicart P.; Chassot V.; Schmidt D.; Rubio-Cabezas O.; Richter-Unruh A.; Berrade S.; Pereda A.; Boros E.; Munoz-Calvo M.T.; Castori M.; Gunes Y.; Bertrand G.; Bougneres P.; Clauser E.; Silve C.;
J. Clin. Endocrinol. Metab. 97:E2328-E2338(2012)
Cited for: VARIANTS ACRDYS2 SER-227 AND ALA-590;
Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.