Transcript #00015884

Transcript name transcript variant 1
Gene name PDE6B (phosphodiesterase 6B, cGMP-specific, rod, beta)
Chromosome 4
Transcript - NCBI ID NM_000283.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_000274.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

203 entries on 3 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
./. - c.-547864_*2711741del r.0? p.0?
+?/. 1 c.3G>T r.(?) p.(M1?)
-?/. - c.23C>T r.(?) p.(Ala8Val)
-/. - c.26G>A r.(?) p.(Arg9Gln)
-/. - c.101C>T r.(?) p.(Ala34Val)
+/. - c.120_121insGAGGA r.(?) p.(Pro41GlufsTer111)
+/. - c.122C>G r.(?) p.(Pro41Arg)
+/. - c.125_126insTGCGA r.(?) p.(Asp43AlafsTer109)
-/. - c.132C>G r.(?) p.(Cys44Trp)
-/. - c.133G>A r.(?) p.(Asp45Asn)
-/. - c.145G>T r.(?) p.(Asp49Tyr)
-/. - c.145G>T r.(?) p.(Asp49Tyr)
-?/. - c.145G>T r.(?) p.(Asp49Tyr)
?/. - c.220C>T r.(?) p.(Arg74Cys)
?/. - c.221G>T r.(?) p.(Arg74Leu)
?/. - c.245G>A r.(?) p.(Arg82His)
?/. - c.245G>A r.(?) p.(Arg82His)
-/. - c.270C>T r.(?) p.(Asp90=)
-/. - c.270C>T r.(?) p.(Asp90=)
+?/. - c.293G>C r.(?) p.(Arg98Pro)
?/. - c.298C>T r.(?) p.(Arg100Cys)
+?/. - c.299G>A r.(?) p.(Arg100His)
+/. 1 c.299G>A r.(?) p.(Arg100His)
?/. - c.307G>A r.(?) p.(Val103Met)
?/. - c.362A>G r.(?) p.(Asp121Gly)
?/. - c.379G>A r.(?) p.(Asp127Asn)
+/. 1 c.428C>A r.(?) p.(Ala143Asp)
?/. - c.454G>C r.(?) p.(Glu152Gln)
?/. - c.480C>G r.(?) p.(Phe160Leu)
?/. - c.485C>T r.(?) p.(Ser162Leu)
-/. - c.496G>A r.(?) p.(Glu166Lys)
-?/. - c.496G>A r.(?) p.(Glu166Lys)
-?/. - c.496G>A r.(?) p.(Glu166Lys)
-/. 2 c.496G>A r.(?) p.(Glu166Lys)
?/. - c.556G>A r.(?) p.(Val186Ile)
-?/. - c.582C>T r.(?) p.(Asn194=)
+/. - c.583A>T r.(?) p.(Lys195Ter)
?/. - c.592G>A r.(?) p.(Gly198Ser)
-?/. - c.615C>T r.(?) p.(Asp205=)
-/. - c.615C>T r.(?) p.(Asp205=)
?/. - c.650C>G r.(?) p.(Thr217Arg)
-?/. - c.655T>C r.(?) p.(Tyr219His)
-/. 3 c.655T>C r.(?) p.(Tyr219His)
-/. 3 c.655T>C r.(?) p.(Tyr219His)
-/. 3 c.655T>C r.(?) p.(Tyr219His)
-/. 3 c.655T>C r.(?) p.(Tyr219His)
-?/. - c.711+10C>T r.(=) p.(=)
+/. 4 c.772C>A r.(?) p.(His258Asn)
?/. - c.785A>G r.(?) p.(Tyr262Cys)
+/. - c.786C>G r.(?) p.(Tyr262*)
?/. - c.787A>G r.(?) p.(Thr263Ala)
?/. - c.794G>A r.(?) p.(Arg265Gln)
?/. - c.794G>A r.(?) p.(Arg265Gln)
?/. - c.794G>A r.(?) p.(Arg265Gln)
+?/. 4 c.801C>A r.(?) p.(Tyr267*)
-?/. - c.804C>T r.(?) p.(Leu268=)
+/. - c.810C>A r.(?) p.(Cys270Ter)
+/. - c.811G>A r.(?) p.(Glu271Lys)
?/. - c.815G>A r.(?) p.(Arg272Gln)
+/. - c.837del r.(?) p.(Asp279GlufsTer2)
-/. - c.852+11C>T r.(=) p.(=)
-?/. - c.852+12G>A r.(=) p.(=)
-/. - c.873T>C r.(?) p.(Ser291=)
+/. - c.892C>T r.(?) p.(Gln298Ter)
+/. - c.892C>T r.(?) p.(Gln298Ter)
+/. 5 c.892C>T r.(?) p.(Gln298*)
+/. 5 c.892C>T r.(?) p.(Gln298*)
-?/. - c.926G>A r.(?) p.(Arg309Gln)
+?/. - c.927+1G>C r.spl? p.?
+/. 5i_6 c.928-9_940dup r.spl p.(Tyr314Cysfs*50)
+?/. 5i c.928-9_940dup r.spl? p.?
-/. - c.958= r.(=) p.(Ile320=)
?/. - c.967G>A r.(?) p.(Gly323Ser)
+/. - c.992+1del r.spl? p.?
-?/. - c.993-17C>T r.(=) p.(=)
-/. - c.1041C>T r.(?) p.(Tyr347=)
+/. - c.1041dup r.(?) p.(Val348ArgfsTer9)
+/. - c.1041_1042dup r.(?) p.(Val348AlafsTer12)
+/. 7 c.1043_1044insCG r.(?) p.(Ala349Glyfs*11)
-?/. - c.1059+9C>G r.(=) p.(=)
?/. 6i c.1060-13G>A r.(spl?) p.(?)
?/. 6i c.1060-13G>A r.(spl?) p.(?)
-/. - c.1060-13G>A r.(=) p.(=)
?/. - c.1066A>G r.(?) p.(Asn356Asp)
-?/. - c.1083C>T r.(?) p.(Ser361=)
+?/. - c.1107+3A>G r.spl? p.?
+?/. - c.1107+3A>G r.spl? p.?
+?/. - c.1107+3A>G r.spl? p.?
+?/. 8i c.1107+3A>G r.(spl?) p.(?)
+/. 8i c.1107+3A>G r.(spl?) p.(?)
+/. 8i c.1107+3A>G r.(spl?) p.(?)
-/. - c.1108-9C>T r.(=) p.(=)
?/. - c.1108-3C>A r.spl? p.?
+/. 9 c.1160C>T r.(?) p.(Pro387Leu)
+/. 9 c.1160C>T r.(?) p.(Pro387Leu)
+?/. 9 c.1189G>A r.(?) p.(Gly397Arg)
?/. - c.1195G>A r.(?) p.(Ala399Thr)
+/. - c.1207_1208del r.(?) p.(Asn403GlnfsTer8)
?/. - c.1210A>G r.(?) p.(Arg404Gly)
-?/. - c.1218C>T r.(?) p.(Asp406=)
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