Transcript #00000121 (NM_001079802.1, FKTN gene)

Transcript name fukutin, transcript variant 1
Gene name FKTN (fukutin)
Chromosome 9
Transcript - NCBI ID NM_001079802.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_001073270.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

358 entries on 4 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-?/. - c.-88-6T>C r.(=) p.(=)
-/? 3 c.-45G>T r.(?) p.(=)
?/. 5' UTR c.-7C>G r.(?) p.(=)
?/. 3 c.21C>T r.(?) p.(=)
-?/. - c.21C>T r.(?) p.(Asn7=)
?/. - c.22G>A r.(?) p.(Val8Met)
?/. - c.22G>T r.(?) p.(Val8Leu)
?/. - c.22G>T r.(?) p.(Val8Leu)
?/. 3 c.41C>T r.(?) p.(Thr14Met)
?/. 3 c.41C>T r.(?) p.(Thr14Met)
?/. - c.41C>T r.(?) p.(Thr14Met)
+/. - c.42del r.(?) p.(Leu15*)
-/. - c.42G>A r.(?) p.(Thr14=)
-/. - c.42G>A r.(?) p.(Thr14=)
-/? 3 c.42G>A r.(?) p.(=)
-?/. - c.63G>C r.(?) p.(Leu21=)
?/. 3i c.105+36_105+39del r.(?) p.(=)
-/? 3i c.106-40A>G r.(?) p.(=)
-/. - c.106-10G>A r.(=) p.(=)
-/. - c.106-10G>A r.(=) p.(=)
-/? 3i c.106-10G>A r.(?) p.(=)
+/. 4 c.139C>T r.(?) p.(Arg47*)
+/. 4 c.139C>T r.(?) p.(Arg47*)
+/. 4 c.139C>T r.(?) p.(Arg47*)
+/. 4 c.139C>T r.(?) p.(Arg47*)
+/. 4 c.139C>T r.(?) p.(Arg47*)
+/. 4 c.139C>T r.(?) p.(Arg47*)
+/. 4 c.139C>T r.(?) p.(Arg47*)
+/. 4 c.139C>T r.(?) p.(Arg47*)
+/. 4 c.139C>T r.(?) p.(Arg47*)
+/. 4 c.139C>T r.(?) p.(Arg47*)
+/. 4 c.139C>T r.(?) p.(Arg47*)
?/. 4 c.143T>C r.(?) p.(Ile48Thr)
-/? 4i c.165-6A>G r.(spl?) p.(?)
+?/. - c.165+1G>T r.spl? p.?
?/. 4i c.165+29A>G r.(?) p.(=)
-?/. 4i c.165+835T>G r.(?) p.(=)
+/. - c.165+1427A>G r.spl p.?
-?/. - c.165+1491G>A r.(=) p.(=)
-/. - c.166-6A>G r.(=) p.(=)
-/. - c.166-6A>G r.(=) p.(=)
?/. 4i c.166-6A>G r.(?) p.(=)
?/. 4i c.166-4A>G r.spl p.?
?/. 4i c.166-4A>G r.(?) p.(ins)
?/. - c.166-4A>G r.spl? p.?
?/. - c.166C>T r.(?) p.(Arg56Cys)
-?/. - c.166C>T r.(?) p.(Arg56Cys)
-/? 5 c.166C>T r.(spl?) p.(Arg56Cys)
-?/. 5 c.166C>T r.(spl?) p.(Arg56Cys)
-?/. 5 c.166C>T r.(spl?) p.(Arg56Cys)
-/. - c.166C>T r.(?) p.(Arg56Cys)
?/. - c.166C>T r.(?) p.(Arg56Cys)
-/? 5 c.166C>T r.(?) p.(Arg56Cys)
-?/. - c.166C>T r.(?) p.(Arg56Cys)
-?/. - c.167G>A r.(?) p.(Arg56His)
?/. 5 c.167G>A r.(?) p.(Arg56His)
-?/. - c.167G>A r.(?) p.(Arg56His)
-?/. - c.187A>G r.(?) p.(Met63Val)
+/. 5 c.187_188del r.(?) p.(Met63Valfs*13)
-?/. - c.207T>C r.(?) p.(Asn69=)
-?/. - c.207T>C r.(?) p.(Asn69=)
+/. - c.218T>C r.(?) p.(Phe73Ser)
?/. - c.239T>C r.(?) p.(Leu80Pro)
-?/. - c.266A>G r.(?) p.(Gln89Arg)
?/. - c.277A>G r.(?) p.(Thr93Ala)
-?/. - c.285T>C r.(?) p.(His95=)
?/. 5 c.293C>T r.(?) p.(Thr98Ile)
?/. 5 c.296C>T r.(?) p.(Ser99Leu)
?/. 5 c.301T>C r.(?) p.(Cys101Arg)
+/. 5 c.302G>T r.(?) p.(Cys101Phe)
+?/. - c.314G>A r.(?) p.(Cys105Tyr)
+/. - c.314G>T r.(?) p.(Cys105Phe)
?/. 4 c.314G>T r.(?) p.(Cys105Phe)
+?/. 4 c.314G>T r.(?) p.(Cys105Phe)
+/. 5 c.330dup r.(?) p.(Thr111Tyrfs*13)
+/. 5 c.340G>A r.(?) p.(Ala114Thr)
+/. 5 c.340G>A r.(?) p.(Ala114Thr)
+/. 5 c.340G>A r.(?) p.(Ala114Thr)
+/. 5 c.340G>A r.(?) p.(Ala114Thr)
+/. 5 c.345_346delinsCT r.(?) p.(Gln116*)
+/. 5 c.345_346delinsCT r.(?) p.(Gln116*)
+/. 5 c.346C>T r.(?) p.(Gln116*)
-?/. - c.357A>G r.(?) p.(Leu119=)
?/. 5 c.366T>G r.(?) p.(Asn122Lys)
?/. 5i c.369+43C>T r.(?) p.(=)
?/. 6 c.373G>A r.(?) p.(Gly125Ser)
?/. 6 c.373G>A r.(?) p.(Gly125Ser)
?/. 6 c.373G>A r.(?) p.(Gly125Ser)
?/. 6 c.373G>A r.(?) p.(Gly125Ser)
+/. 6 c.373G>A r.(?) p.(Gly125Ser)
-/. - c.373G>A r.(?) p.(Gly125Ser)
-/. - c.373G>A r.(?) p.(Gly125Ser)
?/. 6 c.373G>A r.(?) p.(Gly125Ser)
?/. 6 c.373G>A r.(?) p.(Gly125Ser)
?/. 6 c.373G>A r.(?) p.(Gly125Ser)
-/? 6 c.373G>A r.(?) p.(Gly125Ser)
?/. 6 c.373G>A r.(?) p.(Gly125Ser)
?/. 6 c.373G>A r.(?) p.(Gly125Ser)
?/. 6 c.373G>A r.(?) p.(Gly125Ser)
?/. 6 c.374G>T r.(?) p.(Gly125Val)
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