UniProtKB/SwissProt variant VAR

3',5'-cyclic-AMP phosphodiesterase 4D
Gene: PDE4D
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Variant information Variant position:

304
Type of variant:

LP/P [Disclaimer]
Residue change:

From Alanine (A) to Valine (V) at position 304 (A304V, p.Ala304Val).
Physico-chemical properties:

Change from small size and hydrophobic (A) to medium size and hydrophobic (V)
BLOSUM score:

0
Variant description:

In ACRDYS2.
Other resources:

Variant rs397515433 [ dbSNP | Ensembl ]

Sequence information Variant position:

304
Protein sequence length:

809
Location on the sequence:

LDWCLDQLETLQTRHSVSEM A SNKFKRMLNRELTHLSEMSR
Residue conservation:

Human                         LDWCLDQLETLQTRHSVSEMASNKFKRMLNRELTHLSEMSR

Mouse                         LDWCLDQLETLQTRHSVSEMASNKFKRMLNRELTHLSEMSR

Rat                           LDWCLDQLETLQTRHSVSEMASNKFKRMLNRELTHLSEMSR

Sequence annotation in neighborhood:

Type	Positions	Description
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.

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q08499: Variant p.Ala304Val