Variant position: 225 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 SMSRNSSIASDIHGDDLIVT PFAQVLASLRTVRNNFAALTN
Mouse SMSRNSSIASDIHGDDLIVT PFAQVLASLRTVRNNFAALTN
Rat SMSRNSSIASDIHGDDLIVT PFAQVLASLRTVRNNFAALTN
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
1 – 302 Missing. In isoform 2.
1 – 291 Missing. In isoform 6.
1 – 269 MEAEGSSAPARAGSGEGSDSAGGATLKAPKHLWRHEQHHQYPLRQPQFRLLHPHHHLPPPPPPSPQPQPQCPLQPPPPPPLPPPPPPPGAARGRYASSGATGRVRHRGYSDTERYLYCRAMDRTSYAVETGHRPGLKKSRMSWPSSFQGLRRFDVDNGTSAGRSPLDPMTSPGSGLILQANFVHSQRRESFLYRSDSDYDLSPKSMSRNSSIASDIHGDDLIVTPFAQVLASLRTVRNNFAALTNLQDRAPSKRSPMCNQPSINKATIT -> MKEQPSCAGTGHPMAGYGRMAPFELASGPVKRLRTESPFPCLFA. In isoform 1.
Exome sequencing identifies PDE4D mutations as another cause of acrodysostosis.
Michot C.; Le Goff C.; Goldenberg A.; Abhyankar A.; Klein C.; Kinning E.; Guerrot A.M.; Flahaut P.; Duncombe A.; Baujat G.; Lyonnet S.; Thalassinos C.; Nitschke P.; Casanova J.L.; Le Merrer M.; Munnich A.; Cormier-Daire V.;
Am. J. Hum. Genet. 90:740-745(2012)
Cited for: VARIANTS ACRDYS2 ALA-190; THR-225; SER-226 AND PRO-587;
Identification of novel mutations confirms Pde4d as a major gene causing acrodysostosis.
Lynch D.C.; Dyment D.A.; Huang L.; Nikkel S.M.; Lacombe D.; Campeau P.M.; Lee B.; Bacino C.A.; Michaud J.L.; Bernier F.P.; Parboosingh J.S.; Innes A.M.;
Hum. Mutat. 34:97-102(2013)
Cited for: VARIANTS ACRDYS2 THR-225; THR-301; VAL-304; ALA-329 AND THR-678;
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.