PPT1


Palmitoyl protein thioesterase 1

Ensembl gene entry
Ensembl gene location
Omim gene
Genetics Home Reference entry

Diseases associated to this gene:
CLN1

Finnish Mutations

Mutation Consequence Amino acid change Reference sequence Articles
Vesa-1 absence of transcription 7637805
c.455G>A C152Y 17388982


Foreign Mutations

Mutation Consequence Amino acid change Reference sequence Population Articles
G108R G108R Unknown 11506414
IVS1+1G>A splicing defect Chinese 17044973
IVS1-2A>G frameshift Turkish 10679943
IVS3-3T>G possible aberrant splicing German/South Brazilian
IVS6-1G>T exon skipping German 10679943
IVS7-2A>T aberrant splicing American, Italian 9664077
c.114G>T W37C Turkish 19201763
c.117T>A H39Q English, German, Irish, Welsh, Norwegian 9664077
c.124+1214del 3.6kb deletion 19302939
c.125-15T>G NM_000310.2 Italian 19302939, 16759889
c.125G>A G42E Scandinavian 9664077
c.132-133insTGT C45ins Afro-Caribbean, Asian 10679943
c.134G>A C45Y English 17261688
c.162-163insA frameshift Turkish 10679943
c.163A>T K55X English, Scottish 7637805
c.169insA frameshift and early stop codon at position 101 Italian 9571187
c.174-175delG frameshift English 10679943
c.223A>C T75P Canadian, English, Scottish, American 9425237
c.236A>G D79G American 9425237
c.249-251delCTT F84del English-Irish 10679943, 10649502
c.271-287delinsTT 17-bp deletion, 2-bp insertion QVTTV91-95del Turkish 11589012
c.272A>C Q91P Chinese 17044973
c.287G>A C96Y Dutch 11589012
c.29T>A L10X Scottish 9425237
c.310A>T K104X English 11589012
c.325T>G Y109D American 9664077
c.353G>A G118D Irish/Norwegian 10649502
c.364A>T R122W Swedish/Norwegian 9664077
c.398delT frameshift Scottish/English/Irish 9664077
c.3G>A inefficient initiation German/Native American 9664077
c.451C>T R151X Canadian, English, Scottish, American, Austrian, Belgian 10679943, 9425237
c.456C>A C152X Japanese 10679943
c.490C>T R164X Arab/Moroccan, American 9664077
c.529C>G Q177E English, American 10649502
c.541G>A V181M Swedish/Norwegian 9664077
c.541G>T V181L Spanish 9664077
c.544C>T Q182X Dutch 11589012
c.550G>A E184K Turkish 10679943
c.644delA frameshift Unknown 9664077
c.656T>A L219Q Belgian 9425237
c.665T>A L222P Italian 12382155
c.674T>A F225S American 11589012
c.739T>C Y247H American 9664077
c.749G>T G250V German 9664077
c.774-775insA frameshift French 10679943
c.871C>T Q291X African-American 10649502
c.888G>A W296X English 9664077