Variant position: 804 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 933 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 RTEFFELVSKGEYDWNIKNH RDIFRSMLMTACDLGAVTKPW
Mouse RTEFFELVRKGDYDWSITSH RDVFRSMLMTACDLGAVTKPW
Rat RTEFFELVSKGAYDWSITSH RDVFRSMLMTACDLGAVTKPW
Drosophila RGPFLESVSQPTSYWVAEEP RALLRAMSMTVCDLSAITKPW
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 – 933 Dual 3',5'-cyclic-AMP and -GMP phosphodiesterase 11A
588 – 912 PDEase
816 – 816 Divalent metal cation 1
A genome-wide scan identifies mutations in the gene encoding phosphodiesterase 11A4 (PDE11A) in individuals with adrenocortical hyperplasia.
Horvath A.; Boikos S.; Giatzakis C.; Robinson-White A.; Groussin L.; Griffin K.J.; Stein E.; Levine E.; Delimpasi G.; Hsiao H.P.; Keil M.; Heyerdahl S.; Matyakhina L.; Libe R.; Fratticci A.; Kirschner L.S.; Cramer K.; Gaillard R.C.; Bertagna X.; Carney J.A.; Bertherat J.; Bossis I.; Stratakis C.A.;
Nat. Genet. 38:794-800(2006)
Cited for: INVOLVEMENT IN PPNAD2; TISSUE SPECIFICITY; VARIANTS HIS-804 AND GLY-867;
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.