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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q14432: Variant p.Thr445Ala

cGMP-inhibited 3',5'-cyclic phosphodiesterase 3A
Gene: PDE3A
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Variant information Variant position: help 445
Type of variant: help LP/P [Disclaimer]
Residue change: help From Threonine (T) to Alanine (A) at position 445 (T445A, p.Thr445Ala).
Physico-chemical properties: help Change from medium size and polar (T) to small size and hydrophobic (A)
BLOSUM score: help 0
Variant description: help In HTNB; increased 3',5'-cyclic-AMP phosphodiesterase activity; increased function in cAMP-mediated signaling.
Other resources: help


Sequence information Variant position: help 445
Protein sequence length: help 1141
Location on the sequence: help LRRSLPPGLLRRVSSTWTTT T SATGLPTLEPAPVRRDRSTS
Residue conservation: help 
Human                         LRRSLPPGLLRRVSSTWTTTTSATGLPTLEPAPVRRDRSTS

Mouse                         LRRSLPPGLLRRVSSTWTTTTSATGLPTLEPAPVRRDRSAS

Rat                           LRRSLPPGLLRRVSSTWTTTTSATGLPTLEPAPVRRDRSAS
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 1141 cGMP-inhibited 3',5'-cyclic phosphodiesterase 3A
Region 436 – 482 Disordered
Modified residue 428 – 428 Phosphoserine; by PKA and PKC
Modified residue 438 – 438 Phosphoserine; by PKA and PKC



Literature citations
PDE3A mutations cause autosomal dominant hypertension with brachydactyly.
Maass P.G.; Aydin A.; Luft F.C.; Schaechterle C.; Weise A.; Stricker S.; Lindschau C.; Vaegler M.; Qadri F.; Toka H.R.; Schulz H.; Krawitz P.M.; Parkhomchuk D.; Hecht J.; Hollfinger I.; Wefeld-Neuenfeld Y.; Bartels-Klein E.; Muehl A.; Kann M.; Schuster H.; Chitayat D.; Bialer M.G.; Wienker T.F.; Ott J.; Rittscher K.; Liehr T.; Jordan J.; Plessis G.; Tank J.; Mai K.; Naraghi R.; Hodge R.; Hopp M.; Hattenbach L.O.; Busjahn A.; Rauch A.; Vandeput F.; Gong M.; Rueschendorf F.; Huebner N.; Haller H.; Mundlos S.; Bilginturan N.; Movsesian M.A.; Klussmann E.; Toka O.; Baehring S.;
Nat. Genet. 47:647-653(2015)
Cited for: INVOLVEMENT IN HTNB; VARIANTS HTNB ALA-445; ASN-445; SER-445; THR-447; VAL-447 AND VAL-449; CHARACTERIZATION OF VARIANTS HTNB ALA-445; ASN-445; SER-445; THR-447; VAL-447 AND VAL-449; FUNCTION; CATALYTIC ACTIVITY; PHOSPHORYLATION AT SER-428 AND SER-438;
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.