Mutation Overview - POP4 - p.K70N(Substitution - Missense)

Cosmic » Mutation » Overview » POP4 » p.K70N / c.210G>C

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
PB008835 Pfam Pfam-B_8835:1-123 1 123 Overlap 100.00
POP4 MKSVIYHALSQKEANDSDVQPSGAQRAEAFVRAFLKRSTPRMSPQAREDQLQRKAVVLEY 60 O95707 MKSVIYHALSQKEANDSDVQPSGAQRAEAFVRAFLKRSTPRMSPQAREDQLQRKAVVLEY 60 POP4 FTRHKRKEKKKKAKGLSARQRRELRLFDIKPEQQRYSLFLPLHELWKQYIRDLCSGLKPD 120 O95707 FTRHKRKEKKKKAKGLSARQRRELRLFDIKPEQQRYSLFLPLHELWKQYIRDLCSGLKPD 120 POP4 TQPQMIQAKLLKADLHGAIISVTKSKCPSYVGITGILLQETKHIFKIITKEDRLKVIPKL 180 O95707 TQPQMIQAKLLKADLHGAIISVTKSKCPSYVGITGILLQETKHIFKIITKEDRLKVIPKL 180 POP4 NCVFTVETDGFISYIYGSKFQLRSSERSAKKFKAKGTIDL O95707 NCVFTVETDGFISYIYGSKFQLRSSERSAKKFKAKGTIDL

More details

Wildtype Residue : K Mutant Position : 70 Mutant label : p.K70N Feature Name :Pfam-B_8835:1-123( 1- 123 )
O95707 Pfam low_complexity:65-74 65 74 Overlap 100.00
POP4 MKSVIYHALSQKEANDSDVQPSGAQRAEAFVRAFLKRSTPRMSPQAREDQLQRKAVVLEY 60 O95707 MKSVIYHALSQKEANDSDVQPSGAQRAEAFVRAFLKRSTPRMSPQAREDQLQRKAVVLEY 60 POP4 FTRHKRKEKKKKAKGLSARQRRELRLFDIKPEQQRYSLFLPLHELWKQYIRDLCSGLKPD 120 O95707 FTRHKRKEKKKKAKGLSARQRRELRLFDIKPEQQRYSLFLPLHELWKQYIRDLCSGLKPD 120 POP4 TQPQMIQAKLLKADLHGAIISVTKSKCPSYVGITGILLQETKHIFKIITKEDRLKVIPKL 180 O95707 TQPQMIQAKLLKADLHGAIISVTKSKCPSYVGITGILLQETKHIFKIITKEDRLKVIPKL 180 POP4 NCVFTVETDGFISYIYGSKFQLRSSERSAKKFKAKGTIDL O95707 NCVFTVETDGFISYIYGSKFQLRSSERSAKKFKAKGTIDL

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Wildtype Residue : K Mutant Position : 70 Mutant label : p.K70N Feature Name :low_complexity:65-74( 65- 74 )
O95707 Pfam-B_18661 Pfam-B_18661 8 207 Overlap 100.00
POP4 MKSVIYHALSQKEANDSDVQPSGAQRAEAFVRAFLKRSTPRMSPQAREDQLQRKAVVLEY 60 O95707 MKSVIYHALSQKEANDSDVQPSGAQRAEAFVRAFLKRSTPRMSPQAREDQLQRKAVVLEY 60 POP4 FTRHKRKEKKKKAKGLSARQRRELRLFDIKPEQQRYSLFLPLHELWKQYIRDLCSGLKPD 120 O95707 FTRHKRKEKKKKAKGLSARQRRELRLFDIKPEQQRYSLFLPLHELWKQYIRDLCSGLKPD 120 POP4 TQPQMIQAKLLKADLHGAIISVTKSKCPSYVGITGILLQETKHIFKIITKEDRLKVIPKL 180 O95707 TQPQMIQAKLLKADLHGAIISVTKSKCPSYVGITGILLQETKHIFKIITKEDRLKVIPKL 180 POP4 NCVFTVETDGFISYIYGSKFQLRSSERSAKKFKAKGTIDL O95707 NCVFTVETDGFISYIYGSKFQLRSSERSAKKFKAKGTIDL

More details

Wildtype Residue : K Mutant Position : 70 Mutant label : p.K70N Feature Name :Pfam-B_18661( 8- 207 )
O95707 RNase_P/MRP_p29_subunit RNase_P/MRP_p29_subunit 1 220 Overlap 100.00
POP4 MKSVIYHALSQKEANDSDVQPSGAQRAEAFVRAFLKRSTPRMSPQAREDQLQRKAVVLEY 60 O95707 MKSVIYHALSQKEANDSDVQPSGAQRAEAFVRAFLKRSTPRMSPQAREDQLQRKAVVLEY 60 POP4 FTRHKRKEKKKKAKGLSARQRRELRLFDIKPEQQRYSLFLPLHELWKQYIRDLCSGLKPD 120 O95707 FTRHKRKEKKKKAKGLSARQRRELRLFDIKPEQQRYSLFLPLHELWKQYIRDLCSGLKPD 120 POP4 TQPQMIQAKLLKADLHGAIISVTKSKCPSYVGITGILLQETKHIFKIITKEDRLKVIPKL 180 O95707 TQPQMIQAKLLKADLHGAIISVTKSKCPSYVGITGILLQETKHIFKIITKEDRLKVIPKL 180 POP4 NCVFTVETDGFISYIYGSKFQLRSSERSAKKFKAKGTIDL O95707 NCVFTVETDGFISYIYGSKFQLRSSERSAKKFKAKGTIDL

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Wildtype Residue : K Mutant Position : 70 Mutant label : p.K70N Feature Name :RNase_P/MRP_p29_subunit( 1- 220 )
O95707 PTHR13348 PTHR13348 4 220 Overlap 100.00
POP4 MKSVIYHALSQKEANDSDVQPSGAQRAEAFVRAFLKRSTPRMSPQAREDQLQRKAVVLEY 60 O95707 MKSVIYHALSQKEANDSDVQPSGAQRAEAFVRAFLKRSTPRMSPQAREDQLQRKAVVLEY 60 POP4 FTRHKRKEKKKKAKGLSARQRRELRLFDIKPEQQRYSLFLPLHELWKQYIRDLCSGLKPD 120 O95707 FTRHKRKEKKKKAKGLSARQRRELRLFDIKPEQQRYSLFLPLHELWKQYIRDLCSGLKPD 120 POP4 TQPQMIQAKLLKADLHGAIISVTKSKCPSYVGITGILLQETKHIFKIITKEDRLKVIPKL 180 O95707 TQPQMIQAKLLKADLHGAIISVTKSKCPSYVGITGILLQETKHIFKIITKEDRLKVIPKL 180 POP4 NCVFTVETDGFISYIYGSKFQLRSSERSAKKFKAKGTIDL O95707 NCVFTVETDGFISYIYGSKFQLRSSERSAKKFKAKGTIDL

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Wildtype Residue : K Mutant Position : 70 Mutant label : p.K70N Feature Name :PTHR13348( 4- 220 )
O95707 UniProt:curator Ribonuclease P protein subunit p29 1 220 Overlap 100.00
POP4 MKSVIYHALSQKEANDSDVQPSGAQRAEAFVRAFLKRSTPRMSPQAREDQLQRKAVVLEY 60 O95707 MKSVIYHALSQKEANDSDVQPSGAQRAEAFVRAFLKRSTPRMSPQAREDQLQRKAVVLEY 60 POP4 FTRHKRKEKKKKAKGLSARQRRELRLFDIKPEQQRYSLFLPLHELWKQYIRDLCSGLKPD 120 O95707 FTRHKRKEKKKKAKGLSARQRRELRLFDIKPEQQRYSLFLPLHELWKQYIRDLCSGLKPD 120 POP4 TQPQMIQAKLLKADLHGAIISVTKSKCPSYVGITGILLQETKHIFKIITKEDRLKVIPKL 180 O95707 TQPQMIQAKLLKADLHGAIISVTKSKCPSYVGITGILLQETKHIFKIITKEDRLKVIPKL 180 POP4 NCVFTVETDGFISYIYGSKFQLRSSERSAKKFKAKGTIDL O95707 NCVFTVETDGFISYIYGSKFQLRSSERSAKKFKAKGTIDL

More details

Wildtype Residue : K Mutant Position : 70 Mutant label : p.K70N Feature Name :Ribonuclease P protein subunit p29( 1- 220 )
O95707 UniProt:curator Poly-Lys 65 74 Overlap 100.00
POP4 MKSVIYHALSQKEANDSDVQPSGAQRAEAFVRAFLKRSTPRMSPQAREDQLQRKAVVLEY 60 O95707 MKSVIYHALSQKEANDSDVQPSGAQRAEAFVRAFLKRSTPRMSPQAREDQLQRKAVVLEY 60 POP4 FTRHKRKEKKKKAKGLSARQRRELRLFDIKPEQQRYSLFLPLHELWKQYIRDLCSGLKPD 120 O95707 FTRHKRKEKKKKAKGLSARQRRELRLFDIKPEQQRYSLFLPLHELWKQYIRDLCSGLKPD 120 POP4 TQPQMIQAKLLKADLHGAIISVTKSKCPSYVGITGILLQETKHIFKIITKEDRLKVIPKL 180 O95707 TQPQMIQAKLLKADLHGAIISVTKSKCPSYVGITGILLQETKHIFKIITKEDRLKVIPKL 180 POP4 NCVFTVETDGFISYIYGSKFQLRSSERSAKKFKAKGTIDL O95707 NCVFTVETDGFISYIYGSKFQLRSSERSAKKFKAKGTIDL

More details

Wildtype Residue : K Mutant Position : 70 Mutant label : p.K70N Feature Name :Poly-Lys( 65- 74 )

References

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