Transcript #00024128 (NM_001165899.1, PDE4D gene)

Transcript name transcript variant 3
Gene name PDE4D (phosphodiesterase 4D, cAMP-specific)
Chromosome 5
Transcript - NCBI ID NM_001165899.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_001159371.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

73 entries on 1 page. Showing entries 1 - 73.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     
-?/. - c.10A>G r.(?) p.(Asn4Asp) - - -
?/. - c.272+95201C>T r.(=) p.(=) - - -
-?/. - c.272+95258C>T r.(=) p.(=) - - -
-?/. - c.272+95267C>T r.(=) p.(=) - - -
-?/. - c.272+95288G>A r.(=) p.(=) - - -
-?/. - c.272+220089T>C r.(=) p.(=) - - -
?/. - c.273-214396C>T r.(=) p.(=) - - -
-?/. - c.273-140846G>A r.(=) p.(=) - - -
?/. - c.273-140809C>T r.(=) p.(=) - - -
?/. 2 c.385T>C r.(?) p.(Ser129Pro) - - -
+?/. 4 c.385T>G r.(?) p.(Ser129Ala) - - -
+/. 4 c.386C>T r.(?) p.(Ser129Phe) - - -
+/. 4 c.386C>T r.(?) p.(Ser129Phe) - - -
+?/. - c.392T>C r.(?) p.(Leu131Pro) - - -
+?/+ 5 c.488C>T r.(?) p.(Thr163Ile) - - -
+?/+? 5 c.488C>T r.(?) p.(Thr163Ile) - - -
+?/. 5 c.490C>A r.(?) p.(Pro164Thr) - - -
+?/. 5 c.490C>T r.(?) p.(Pro164Ser) - - -
+?/. 5 c.491C>T r.(?) p.(Pro164Leu) - - -
+?/+? 5 c.493T>G r.(?) p.(Phe165Val) - - -
+?/. 5 c.494T>C r.(?) p.(Phe165Ser) - - -
+?/+? 5 c.494T>G r.(?) p.(Phe165Cys) - - -
+?/+? 5 c.496G>T r.(?) p.(Ala166Ser) - - -
+?/. 5 c.499C>G r.(?) p.(Gln167Glu) - - -
+?/+? 5 c.500A>C r.(?) p.(Gln167Pro) - - -
+/. - c.506T>C r.(?) p.(Leu169Ser) - - -
+?/+? 6 c.506T>C r.(?) p.(Leu169Ser) - - -
+?/. - c.526C>T r.(?) p.(Arg176*) - - -
?/. - c.625+23265T>C r.(=) p.(=) - - -
-?/. - c.626-124C>A r.(=) p.(=) - - -
?/. - c.626-24C>T r.(=) p.(=) - - -
-?/. - c.626-24C>T r.(=) p.(=) - - -
?/. - c.626-22C>T r.(=) p.(=) - - -
-?/. - c.708G>A r.(?) p.(Arg236=) - - -
+/+ 8 c.719G>A r.(?) p.(Ser240Asn) - - -
+?/. 8 c.719G>A r.(?) p.(Ser240Asn) - - -
+?/. 8 c.719G>C r.(?) p.(Ser240Thr) - - -
+?/+? 8 c.724A>G r.(?) p.(Met242Val) - - -
+?/. 8 c.728C>T r.(?) p.(Ala243Val) - - -
+?/. 9 c.751C>G r.(?) p.(Leu251Val) - - -
?/. - c.800A>C r.(?) p.(Gln267Pro) - - -
+?/+? 9 c.803T>C r.(?) p.(Val268Ala) - - -
+?/. 9 c.803T>C r.(?) p.(Val268Ala) - - -
+?/+? 9 c.815T>C r.(?) p.(Ile272Thr) - - -
?/. - c.826_831del r.(?) p.(Phe276_Leu277del) - - -
-/. - c.1006-9del r.(=) p.(=) - - -
-?/. - c.1006-9dup r.(=) p.(=) - - -
?/. - c.1023C>G r.(?) p.(Asn341Lys) - - -
?/. - c.1067A>G r.(?) p.(Asn356Ser) - - -
-/. - c.1104+6G>A r.(=) p.(=) - - -
-?/. - c.1170C>T r.(?) p.(Leu390=) - - -
-?/. - c.1269+8T>C r.(=) p.(=) - - -
+?/+? 13 c.1279A>C r.(?) p.(Thr427Pro) - - -
-/. - c.1509A>G r.(?) p.(Lys503=) - - -
+/. 14 c.1522A>T r.(?) p.(Ile508Phe) - - -
+/. 14 c.1522A>T r.(?) p.(Ile508Phe) - - -
+?/. 15 c.1576A>C r.(?) p.(Thr526Pro) - - -
+?/+? 15 c.1576A>G r.(?) p.(Thr526Ala) - - -
+?/+? 15 c.1586A>C r.(?) p.(Glu529Ala) - - -
+?/. 15 c.1586A>C r.(?) p.(Glu529Ala) - - -
+?/+? 15 c.1600A>C r.(?) p.(Thr534Pro) - - -
?/. - c.1621_1623del r.(?) p.(Leu541del) - - -
+?/+? 16 c.1666C>T r.(?) p.(His556Tyr) - - -
+?/+? 17 c.1835G>A r.(?) p.(Gly612Asp) - - -
+?/. 17 c.1835G>A r.(?) p.(Gly612Asp) - - -
+?/+? 17 c.1850T>C r.(?) p.(Ile617Thr) - - -
+?/+? 17 c.1850T>C r.(?) p.(Ile617Thr) - - -
+?/. 17 c.1850T>C r.(=) p.(Ile617Thr) - - -
-?/. - c.1950A>C r.(?) p.(Thr650=) - - -
+?/+? 17 c.2047G>T r.(?) p.(Gly683Cys) - - -
?/. - c.2062G>T r.(?) p.(Glu688Ter) - - -
+?/. 17 c.2069A>G r.(?) p.(Asp690Gly) - - -
-?/. - c.2119C>G r.(?) p.(Leu707Val) - - -
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