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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q08499: Variant p.Ala304Val

3',5'-cyclic-AMP phosphodiesterase 4D
Gene: PDE4D
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Variant information Variant position: help 304
Type of variant: help LP/P [Disclaimer]
Residue change: help From Alanine (A) to Valine (V) at position 304 (A304V, p.Ala304Val).
Physico-chemical properties: help Change from small size and hydrophobic (A) to medium size and hydrophobic (V)
BLOSUM score: help 0
Variant description: help In ACRDYS2.
Other resources: help


Sequence information Variant position: help 304
Protein sequence length: help 809
Location on the sequence: help LDWCLDQLETLQTRHSVSEM A SNKFKRMLNRELTHLSEMSR
Residue conservation: help
Human                         LDWCLDQLETLQTRHSVSEMASNKFKRMLNRELTHLSEMSR

Mouse                         LDWCLDQLETLQTRHSVSEMASNKFKRMLNRELTHLSEMSR

Rat                           LDWCLDQLETLQTRHSVSEMASNKFKRMLNRELTHLSEMSR

Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 809 3',5'-cyclic-AMP phosphodiesterase 4D
Modified residue 299 – 299 Phosphoserine
Modified residue 301 – 301 Phosphoserine
Alternative sequence 280 – 809 Missing. In isoform N3.
Alternative sequence 284 – 809 Missing. In isoform 12.
Alternative sequence 292 – 306 ETLQTRHSVSEMASN -> MPEANYLLSVSWGYI. In isoform 6.



Literature citations
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.