Variant position: 590 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 809 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human VLATDMSKHMNLLADLKTMV ETKKVTSSGVLLLDNYSDRIQ
Mouse VLATDMSKHMNLLADLKTMV ETKKVTSSGVLLLDNYSDRIQ
Rat VLATDMSKHMNLLADLKTMV ETKKVTSSGVLLLDNYSDRIQ
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
1 – 809 cAMP-specific 3',5'-cyclic phosphodiesterase 4D
386 – 715 PDEase
280 – 809 Missing. In isoform N3.
284 – 809 Missing. In isoform 12.
578 – 590
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;
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