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UniProtKB/Swiss-Prot Q08499: Variant p.Pro225Thr

cAMP-specific 3',5'-cyclic phosphodiesterase 4D
Gene: PDE4D
Variant information

Variant position:  225
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LP/P [Disclaimer]
The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance

Residue change:  From Proline (P) to Threonine (T) at position 225 (P225T, p.Pro225Thr).
Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.

Physico-chemical properties:  Change from medium size and hydrophobic (P) to medium size and polar (T)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -1
The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Variant description:  In ACRDYS2.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

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:   SMSRNSSIASDIHGDDLIVT  P FAQVLASLRTVRNNFAALTN
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                         SMSRNSSIASDIHGDDLIVTPFAQVLASLRTVRNNFAALTN

Mouse                         SMSRNSSIASDIHGDDLIVTPFAQVLASLRTVRNNFAALTN

Rat                           SMSRNSSIASDIHGDDLIVTPFAQVLASLRTVRNNFAALTN

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.

TypePositionsDescription
Chain 1 – 809 cAMP-specific 3',5'-cyclic phosphodiesterase 4D
Alternative sequence 1 – 302 Missing. In isoform 2.
Alternative sequence 1 – 291 Missing. In isoform 6.
Alternative sequence 1 – 269 MEAEGSSAPARAGSGEGSDSAGGATLKAPKHLWRHEQHHQYPLRQPQFRLLHPHHHLPPPPPPSPQPQPQCPLQPPPPPPLPPPPPPPGAARGRYASSGATGRVRHRGYSDTERYLYCRAMDRTSYAVETGHRPGLKKSRMSWPSSFQGLRRFDVDNGTSAGRSPLDPMTSPGSGLILQANFVHSQRRESFLYRSDSDYDLSPKSMSRNSSIASDIHGDDLIVTPFAQVLASLRTVRNNFAALTNLQDRAPSKRSPMCNQPSINKATIT -> MKEQPSCAGTGHPMAGYGRMAPFELASGPVKRLRTESPFPCLFA. In isoform 1.


Literature citations

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;

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.