Transcript #00024036 (NM_004208.3, AIFM1 gene)

Transcript name transcript variant 1
Gene name AIFM1 (apoptosis-inducing factor, mitochondrion-associated, 1)
Chromosome X
Transcript - NCBI ID NM_004208.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_004199.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

83 entries on 1 page. Showing entries 1 - 83.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
+?/+? 1 c.-123G>C r.(=) p.(=)
-?/. - c.72C>T r.(?) p.(Cys24=)
-?/. - c.72C>T r.(?) p.(Cys24=)
-?/. - c.72C>T r.(?) p.(Cys24=)
-?/. - c.72C>T r.(?) p.(Cys24=)
-/. - c.103C>T r.(?) p.(Pro35Ser)
-/. - c.103C>T r.(?) p.(Pro35Ser)
-?/. - c.103C>T r.(?) p.(Pro35Ser)
-?/. - c.119A>G r.(?) p.(Gln40Arg)
?/. - c.170C>G r.(?) p.(Ser57Cys)
?/. - c.170C>G r.(?) p.(Ser57Cys)
?/. - c.170C>G r.(?) p.(Ser57Cys)
?/. - c.173G>T r.(?) p.(Gly58Val)
?/. - c.249+1179C>T r.(=) p.(=)
-?/. - c.249+1206A>G r.(=) p.(=)
?/. 3 c.261T>C r.(?) p.(=)
-?/. - c.262A>G r.(?) p.(Met88Val)
?/. - c.268G>A r.(?) p.(Glu90Lys)
?/. 3 c.273T>C r.(?) p.(=)
-/. - c.273T>C r.(?) p.(Asp91=)
-?/. - c.274G>A r.(?) p.(Glu92Lys)
?/. - c.287A>G r.(?) p.(Asn96Ser)
+?/. - c.422C>T r.(?) p.(Thr141Ile)
+?/+? 4 c.434C>T r.(?) p.(Ala145Val)
+?/+? 4 c.452G>A r.(?) p.(Arg151Gln)
?/? 5 c.497C>T r.(?) p.(Pro166Leu)
+?/+? 5 c.572_573delinsCT r.(?) p.(Leu191Pro)
+/+ 5 c.603_605del r.(?) p.(Arg201del)
+/+ 6 c.623C>T r.(?) p.(Pro208Leu)
-?/. 5i c.696+47A>C r.(=) p.(=)
?/. - c.705G>C r.(?) p.(Gln235His)
+/+ 7 c.727G>T r.(?) p.(Val243Leu)
?/. - c.761A>G r.(?) p.(Glu254Gly)
+/+ 7 c.778A>G r.(?) p.(Thr260Ala)
?/. 8 c.789G>A r.(?) p.?
?/. 8 c.801G>A r.(?) p.(=)
?/. - c.824C>T r.(?) p.(Ala275Val)
?/. - c.844A>G r.(?) p.(Thr282Ala)
+?/+? 8 c.845C>T r.(?) p.(Thr282Met)
+?/+? 9 c.860T>C r.(?) p.(Ile287Thr)
-?/. - c.893G>A r.(?) p.(Arg298Gln)
?/. - c.902A>G r.(?) p.(Lys301Arg)
-/. - c.918C>T r.(?) p.(Ile306=)
+/+ 9 c.923G>A r.(?) p.(Gly308Glu)
-?/. - c.939C>T r.(?) p.(Ser313=)
-?/. - c.939C>T r.(?) p.(Ser313=)
-?/. - c.948C>A r.(?) p.(Ala316=)
-/. - c.996A>G r.(?) p.(Gln332=)
+/. 10 c.1013G>A r.(?) p.(Gly338Glu)
+/. 10 c.1019T>C r.(?) p.(Met340Thr)
+/+ 10 c.1030C>T r.(?) p.(Leu344Phe)
+?/+? 11 c.1078G>C r.(?) p.(Gly360Arg)
+?/+? 11 c.1097A>G r.(?) p.(Asn366Ser)
-?/. - c.1097A>G r.(?) p.(Asn366Ser)
-?/-? 11 c.1113C>T r.(=) p.(=)
-?/. - c.1117G>A r.(?) p.(Gly373Arg)
+?/+? 12 c.1184T>G r.(?) p.(Val395Gly)
-?/. - c.1227T>G r.(?) p.(Thr409=)
+/+ 12 c.1264C>T r.(?) p.(Arg422Trp)
+/+ 12 c.1265G>A r.(?) p.(Arg422Gln)
-?/. 12i c.1306-34del r.(=) p.(=)
+?/+? 13 c.1319C>T r.(?) p.(Ala440Val)
-/. - c.1329C>T r.(?) p.(Tyr443=)
-?/. - c.1329C>T r.(?) p.(Tyr443=)
?/. - c.1334T>C r.(?) p.(Ile445Thr)
+/+ 13 c.1352G>A r.(?) p.(Arg451Gln)
+/. - c.1352G>A r.(?) p.(Arg451Gln)
?/. - c.1388G>T r.(?) p.(Arg463Ile)
-?/. - c.1416T>C r.(?) p.(Ala472=)
+?/+? 13 c.1424C>T r.(?) p.(Pro475Leu)
?/. - c.1442T>C r.(?) p.(Met481Thr)
-?/. - c.1449-5_1449-3del r.spl? p.?
-?/. - c.1473C>T r.(?) p.(Gly491=)
+/. - c.1474T>C r.(?) p.(Tyr492His)
+/+ 14 c.1478A>T r.(?) p.(Glu493Val)
+?/+? 14 c.1492G>A r.(?) p.(Val498Met)
?/. - c.1592A>C r.(?) p.(Glu531Ala)
-?/. - c.1594A>G r.(?) p.(Ser532Gly)
?/. - c.1627A>G r.(?) p.(Ile543Val)
-?/. - c.1643C>T r.(?) p.(Pro548Leu)
?/. - c.1661C>T r.(?) p.(Pro554Leu)
+?/+? 15 c.1678T>C r.(?) p.(Tyr560His)
+?/+? 16 c.1820T>A r.(?) p.(Leu607Gln)
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