Mutation Overview - PEX14 - p.S78L(Substitution - Missense)

Cosmic » Mutation » Overview » PEX14 » p.S78L / c.233C>T

Overview

This tab shows an overview of the mutation data [more details]
  • Description:
  • Mutation id:
  • AA Mutation:
  • CDS Mutation:
  • GRCH 37:
  • Cancer Genome Browser:
  • CDD:
  • Homologene:
  • Ever confirmed somatic:

Tissue Distribution

This tab displays the distribution of mutated samples and tissue types. [more details]

Samples

This tab displays a table of muated samples, with tissue, histology and zygosity information. Publication information is also included, where available, with links to PUBMED. [more details]
Sample name Gene Name Transcript Primary Tissue Histology Pubmed Id Zygosity Somatic Status

Protein features

This tab displays a table of protein features [more details]
View Identifier Source Feature Start End Status Score
O75381 Pex14_N Pex14_N 24 135 Overlap 100.00
PEX14 MASSEQAEQPSQPSSTPGSENVLPREPLIATAVKFLQNSRVRQSPLATRRAFLKKKGLTD 60 O75381 MASSEQAEQPSQPSSTPGSENVLPREPLIATAVKFLQNSRVRQSPLATRRAFLKKKGLTD 60 PEX14 EEIDMAFQQSGTAADEPSSLGPATQVVPVQPPHLISQPYSPAGSRWRDYGALAIIMAGIA 120 O75381 EEIDMAFQQSGTAADEPSSLGPATQVVPVQPPHLISQPYSPAGSRWRDYGALAIIMAGIA 120 PEX14 FGFHQLYKKYLLPLILGGREDRKQLERMEAGLSELSGSVAQTVTQLQTTLASVQELLIQQ 180 O75381 FGFHQLYKKYLLPLILGGREDRKQLERMEAGLSELSGSVAQTVTQLQTTLASVQELLIQQ 180 PEX14 QQKIQELAHELAAAKATTSTNWILESQNINELKSEINSLKGLLLNRRQFPPSPSAPKIPS 240 O75381 QQKIQELAHELAAAKATTSTNWILESQNINELKSEINSLKGLLLNRRQFPPSPSAPKIPS 240 PEX14 WQIPVKSPSPSSPAAVNHHSSSDISPVSNESTSSSPGKEGHSPEGSTVTYHLLGPQEEGE 300 O75381 WQIPVKSPSPSSPAAVNHHSSSDISPVSNESTSSSPGKEGHSPEGSTVTYHLLGPQEEGE 300 PEX14 GVVDVKGQVRMEVQGEEEKREDKEDEEDEEDDDVSHVDEEDCLGVQREDRRGGDGQINEQ 360 O75381 GVVDVKGQVRMEVQGEEEKREDKEDEEDEEDDDVSHVDEEDCLGVQREDRRGGDGQINEQ 360 PEX14 VEKLRRPEGASNESERD O75381 VEKLRRPEGASNESERD

More details

Wildtype Residue : S Mutant Position : 78 Mutant label : p.S78L Feature Name :Pex14_N( 24- 135 )
O75381 PTHR23058:SF0 PTHR23058:SF0 2 377 Overlap 100.00
PEX14 MASSEQAEQPSQPSSTPGSENVLPREPLIATAVKFLQNSRVRQSPLATRRAFLKKKGLTD 60 O75381 MASSEQAEQPSQPSSTPGSENVLPREPLIATAVKFLQNSRVRQSPLATRRAFLKKKGLTD 60 PEX14 EEIDMAFQQSGTAADEPSSLGPATQVVPVQPPHLISQPYSPAGSRWRDYGALAIIMAGIA 120 O75381 EEIDMAFQQSGTAADEPSSLGPATQVVPVQPPHLISQPYSPAGSRWRDYGALAIIMAGIA 120 PEX14 FGFHQLYKKYLLPLILGGREDRKQLERMEAGLSELSGSVAQTVTQLQTTLASVQELLIQQ 180 O75381 FGFHQLYKKYLLPLILGGREDRKQLERMEAGLSELSGSVAQTVTQLQTTLASVQELLIQQ 180 PEX14 QQKIQELAHELAAAKATTSTNWILESQNINELKSEINSLKGLLLNRRQFPPSPSAPKIPS 240 O75381 QQKIQELAHELAAAKATTSTNWILESQNINELKSEINSLKGLLLNRRQFPPSPSAPKIPS 240 PEX14 WQIPVKSPSPSSPAAVNHHSSSDISPVSNESTSSSPGKEGHSPEGSTVTYHLLGPQEEGE 300 O75381 WQIPVKSPSPSSPAAVNHHSSSDISPVSNESTSSSPGKEGHSPEGSTVTYHLLGPQEEGE 300 PEX14 GVVDVKGQVRMEVQGEEEKREDKEDEEDEEDDDVSHVDEEDCLGVQREDRRGGDGQINEQ 360 O75381 GVVDVKGQVRMEVQGEEEKREDKEDEEDEEDDDVSHVDEEDCLGVQREDRRGGDGQINEQ 360 PEX14 VEKLRRPEGASNESERD O75381 VEKLRRPEGASNESERD

More details

Wildtype Residue : S Mutant Position : 78 Mutant label : p.S78L Feature Name :PTHR23058:SF0( 2- 377 )
O75381 PTHR23058 PTHR23058 2 377 Overlap 100.00
PEX14 MASSEQAEQPSQPSSTPGSENVLPREPLIATAVKFLQNSRVRQSPLATRRAFLKKKGLTD 60 O75381 MASSEQAEQPSQPSSTPGSENVLPREPLIATAVKFLQNSRVRQSPLATRRAFLKKKGLTD 60 PEX14 EEIDMAFQQSGTAADEPSSLGPATQVVPVQPPHLISQPYSPAGSRWRDYGALAIIMAGIA 120 O75381 EEIDMAFQQSGTAADEPSSLGPATQVVPVQPPHLISQPYSPAGSRWRDYGALAIIMAGIA 120 PEX14 FGFHQLYKKYLLPLILGGREDRKQLERMEAGLSELSGSVAQTVTQLQTTLASVQELLIQQ 180 O75381 FGFHQLYKKYLLPLILGGREDRKQLERMEAGLSELSGSVAQTVTQLQTTLASVQELLIQQ 180 PEX14 QQKIQELAHELAAAKATTSTNWILESQNINELKSEINSLKGLLLNRRQFPPSPSAPKIPS 240 O75381 QQKIQELAHELAAAKATTSTNWILESQNINELKSEINSLKGLLLNRRQFPPSPSAPKIPS 240 PEX14 WQIPVKSPSPSSPAAVNHHSSSDISPVSNESTSSSPGKEGHSPEGSTVTYHLLGPQEEGE 300 O75381 WQIPVKSPSPSSPAAVNHHSSSDISPVSNESTSSSPGKEGHSPEGSTVTYHLLGPQEEGE 300 PEX14 GVVDVKGQVRMEVQGEEEKREDKEDEEDEEDDDVSHVDEEDCLGVQREDRRGGDGQINEQ 360 O75381 GVVDVKGQVRMEVQGEEEKREDKEDEEDEEDDDVSHVDEEDCLGVQREDRRGGDGQINEQ 360 PEX14 VEKLRRPEGASNESERD O75381 VEKLRRPEGASNESERD

More details

Wildtype Residue : S Mutant Position : 78 Mutant label : p.S78L Feature Name :PTHR23058( 2- 377 )
O75381 UniProt:curator Peroxisomal membrane protein PEX14 2 377 Overlap 100.00
PEX14 MASSEQAEQPSQPSSTPGSENVLPREPLIATAVKFLQNSRVRQSPLATRRAFLKKKGLTD 60 O75381 MASSEQAEQPSQPSSTPGSENVLPREPLIATAVKFLQNSRVRQSPLATRRAFLKKKGLTD 60 PEX14 EEIDMAFQQSGTAADEPSSLGPATQVVPVQPPHLISQPYSPAGSRWRDYGALAIIMAGIA 120 O75381 EEIDMAFQQSGTAADEPSSLGPATQVVPVQPPHLISQPYSPAGSRWRDYGALAIIMAGIA 120 PEX14 FGFHQLYKKYLLPLILGGREDRKQLERMEAGLSELSGSVAQTVTQLQTTLASVQELLIQQ 180 O75381 FGFHQLYKKYLLPLILGGREDRKQLERMEAGLSELSGSVAQTVTQLQTTLASVQELLIQQ 180 PEX14 QQKIQELAHELAAAKATTSTNWILESQNINELKSEINSLKGLLLNRRQFPPSPSAPKIPS 240 O75381 QQKIQELAHELAAAKATTSTNWILESQNINELKSEINSLKGLLLNRRQFPPSPSAPKIPS 240 PEX14 WQIPVKSPSPSSPAAVNHHSSSDISPVSNESTSSSPGKEGHSPEGSTVTYHLLGPQEEGE 300 O75381 WQIPVKSPSPSSPAAVNHHSSSDISPVSNESTSSSPGKEGHSPEGSTVTYHLLGPQEEGE 300 PEX14 GVVDVKGQVRMEVQGEEEKREDKEDEEDEEDDDVSHVDEEDCLGVQREDRRGGDGQINEQ 360 O75381 GVVDVKGQVRMEVQGEEEKREDKEDEEDEEDDDVSHVDEEDCLGVQREDRRGGDGQINEQ 360 PEX14 VEKLRRPEGASNESERD O75381 VEKLRRPEGASNESERD

More details

Wildtype Residue : S Mutant Position : 78 Mutant label : p.S78L Feature Name :Peroxisomal membrane protein PEX14( 2- 377 )
O75381 UniProt:curator UNIPROTKB_O75381_VAR_SEQ_58_100 58 100 Overlap 100.00
PEX14 MASSEQAEQPSQPSSTPGSENVLPREPLIATAVKFLQNSRVRQSPLATRRAFLKKKGLTD 60 O75381 MASSEQAEQPSQPSSTPGSENVLPREPLIATAVKFLQNSRVRQSPLATRRAFLKKKGLTD 60 PEX14 EEIDMAFQQSGTAADEPSSLGPATQVVPVQPPHLISQPYSPAGSRWRDYGALAIIMAGIA 120 O75381 EEIDMAFQQSGTAADEPSSLGPATQVVPVQPPHLISQPYSPAGSRWRDYGALAIIMAGIA 120 PEX14 FGFHQLYKKYLLPLILGGREDRKQLERMEAGLSELSGSVAQTVTQLQTTLASVQELLIQQ 180 O75381 FGFHQLYKKYLLPLILGGREDRKQLERMEAGLSELSGSVAQTVTQLQTTLASVQELLIQQ 180 PEX14 QQKIQELAHELAAAKATTSTNWILESQNINELKSEINSLKGLLLNRRQFPPSPSAPKIPS 240 O75381 QQKIQELAHELAAAKATTSTNWILESQNINELKSEINSLKGLLLNRRQFPPSPSAPKIPS 240 PEX14 WQIPVKSPSPSSPAAVNHHSSSDISPVSNESTSSSPGKEGHSPEGSTVTYHLLGPQEEGE 300 O75381 WQIPVKSPSPSSPAAVNHHSSSDISPVSNESTSSSPGKEGHSPEGSTVTYHLLGPQEEGE 300 PEX14 GVVDVKGQVRMEVQGEEEKREDKEDEEDEEDDDVSHVDEEDCLGVQREDRRGGDGQINEQ 360 O75381 GVVDVKGQVRMEVQGEEEKREDKEDEEDEEDDDVSHVDEEDCLGVQREDRRGGDGQINEQ 360 PEX14 VEKLRRPEGASNESERD O75381 VEKLRRPEGASNESERD

More details

Wildtype Residue : S Mutant Position : 78 Mutant label : p.S78L Feature Name :UNIPROTKB_O75381_VAR_SEQ_58_100( 58- 100 )

References

This tab displays a table of references for the mutation [more details]
Reference Title Author Year Journal Status COSMIC Pubmed