Yum, tasty mutations...

MutationTaster - study a chromosomal position

 MTQE documentation
NEVER press reload or F5 - unless you want to start from the very beginning.
input seems to be ok - now mapping the variant to the different transcripts...
found 6 transcript(s)...
Querying Taster for transcript #1: ENST00000413465
Querying Taster for transcript #2: ENST00000359597
Querying Taster for transcript #3: ENST00000269305
Querying Taster for transcript #4: ENST00000455263
Querying Taster for transcript #5: ENST00000420246
Querying Taster for transcript #6: ENST00000445888
MT speed 0 s - this script 5.10148 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
TP53polymorphism_automatic1.10401769948254e-08simple_aaeaffectedP72Rsingle base exchangers1042522show file
TP53polymorphism_automatic1.10401769948254e-08simple_aaeaffectedP72Rsingle base exchangers1042522show file
TP53polymorphism_automatic1.10401769948254e-08simple_aaeaffectedP72Rsingle base exchangers1042522show file
TP53polymorphism_automatic1.10401769948254e-08simple_aaeaffectedP72Rsingle base exchangers1042522show file
TP53polymorphism_automatic1.10401769948254e-08simple_aaeaffectedP72Rsingle base exchangers1042522show file
TP53polymorphism_automatic1.10401769948254e-08simple_aaeaffectedP72Rsingle base exchangers1042522show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999988959823 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM961374)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr17:7579472G>CN/A show variant in all transcripts   IGV
HGNC symbol TP53
Ensembl transcript ID ENST00000413465
Genbank transcript ID N/A
UniProt peptide P04637
alteration type single base exchange
alteration region CDS
DNA changes c.215C>G
cDNA.215C>G
g.11385C>G
AA changes P72R Score: 103 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 72
frameshift no
known variant Reference ID: rs1042522
databasehomozygous (C/C)heterozygousallele carriers
1000G79111371928
ExAC27306-218455461

known disease mutation at this position, please check HGMD for details (HGMD ID CM961374)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.6420.001
3.310.045
(flanking)0.4870.01
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained113810.39mu: CTGCTCCCCGCGTGG GCTC|cccg
distance from splice site 119
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      72DEAPRMPEAAPPVAPAPAAPTPAA
mutated  not conserved    72DEAPRMPEAAPRVAPAPAAPTPA
Ptroglodytes  all identical  ENSPTRG00000008703  72DEAPRMPEAAPPVAPAPAAPTPA
Mmulatta  all identical  ENSMMUG00000008639  72DEAPRMSEAAPPMAPTPAAPTPA
Fcatus  not conserved  ENSFCAG00000009623  69DDASGMS-----AVPAPAAPAPA
Mmusculus  not conserved  ENSMUSG00000059552  69SEALRVSGAPAAQDPVTETPGPV
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no alignment  FBgn0039044  n/a
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000025055  55---------PLAPDMTVLQEG
protein features
start (aa)end (aa)featuredetails 
183REGIONInteraction with HRMT1L2.lost
66110REGIONInteraction with WWOX.lost
9999MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
100370REGIONInteraction with HIPK1 (By similarity).might get lost (downstream of altered splice site)
102292DNA_BINDmight get lost (downstream of altered splice site)
105108TURNmight get lost (downstream of altered splice site)
110112STRANDmight get lost (downstream of altered splice site)
113236REGIONRequired for interaction with FBXO42.might get lost (downstream of altered splice site)
116292REGIONInteraction with AXIN1 (By similarity).might get lost (downstream of altered splice site)
118120STRANDmight get lost (downstream of altered splice site)
120120SITEInteraction with DNA.might get lost (downstream of altered splice site)
121123TURNmight get lost (downstream of altered splice site)
124127STRANDmight get lost (downstream of altered splice site)
128131TURNmight get lost (downstream of altered splice site)
132135STRANDmight get lost (downstream of altered splice site)
141146STRANDmight get lost (downstream of altered splice site)
156165STRANDmight get lost (downstream of altered splice site)
166168HELIXmight get lost (downstream of altered splice site)
176176METALZinc.might get lost (downstream of altered splice site)
177180HELIXmight get lost (downstream of altered splice site)
179179METALZinc.might get lost (downstream of altered splice site)
181183STRANDmight get lost (downstream of altered splice site)
183183MUTAGENS->A: Abolishes strongly phosphorylation.might get lost (downstream of altered splice site)
183183MOD_RESPhosphoserine; by AURKB.might get lost (downstream of altered splice site)
183183MUTAGENS->E: Inhibits slightly its transcriptional activity.might get lost (downstream of altered splice site)
187189STRANDmight get lost (downstream of altered splice site)
194199STRANDmight get lost (downstream of altered splice site)
204207STRANDmight get lost (downstream of altered splice site)
209211TURNmight get lost (downstream of altered splice site)
214219STRANDmight get lost (downstream of altered splice site)
225227TURNmight get lost (downstream of altered splice site)
228236STRANDmight get lost (downstream of altered splice site)
238238METALZinc.might get lost (downstream of altered splice site)
240242HELIXmight get lost (downstream of altered splice site)
241248REGIONInteracts with the 53BP2 SH3 domain.might get lost (downstream of altered splice site)
242242METALZinc.might get lost (downstream of altered splice site)
243248TURNmight get lost (downstream of altered splice site)
251258STRANDmight get lost (downstream of altered splice site)
256294REGIONInteraction with E4F1.might get lost (downstream of altered splice site)
260262STRANDmight get lost (downstream of altered splice site)
264274STRANDmight get lost (downstream of altered splice site)
269269MOD_RESPhosphoserine; by AURKB.might get lost (downstream of altered splice site)
269269MUTAGENS->A: Abolishes strongly phosphorylation.might get lost (downstream of altered splice site)
269269MUTAGENS->E: Inhibits strongly its transcriptional activity.might get lost (downstream of altered splice site)
273280REGIONInteraction with DNA.might get lost (downstream of altered splice site)
278287HELIXmight get lost (downstream of altered splice site)
284284MOD_RESPhosphothreonine; by AURKB.might get lost (downstream of altered splice site)
284284MUTAGENT->E: Inhibits strongly its transcriptional activity.might get lost (downstream of altered splice site)
288290HELIXmight get lost (downstream of altered splice site)
291291CROSSLNKGlycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin).might get lost (downstream of altered splice site)
291292MUTAGENKK->RR: Abolishes polyubiquitination by MKRN1.might get lost (downstream of altered splice site)
292292MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
292292CROSSLNKGlycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin).might get lost (downstream of altered splice site)
300393REGIONInteraction with CARM1.might get lost (downstream of altered splice site)
305305MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
305321MOTIFBipartite nuclear localization signal.might get lost (downstream of altered splice site)
313313MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
314314MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
315315MOD_RESPhosphoserine; by AURKA, CDK1 and CDK2.might get lost (downstream of altered splice site)
319319MUTAGENK->A: Loss of nuclear localization; when associated with A-320 and A-321.might get lost (downstream of altered splice site)
319360REGIONInteraction with HIPK2.might get lost (downstream of altered splice site)
320320MUTAGENK->A: Loss of nuclear localization; when associated with A-319 and A-321.might get lost (downstream of altered splice site)
321321MUTAGENK->A: Loss of nuclear localization; when associated with A-319 and A-320.might get lost (downstream of altered splice site)
321324HELIXmight get lost (downstream of altered splice site)
325356REGIONOligomerization.might get lost (downstream of altered splice site)
327334STRANDmight get lost (downstream of altered splice site)
335354HELIXmight get lost (downstream of altered splice site)
339350MOTIFNuclear export signal.might get lost (downstream of altered splice site)
359359MUTAGENP->D: Abolishes binding to USP7.might get lost (downstream of altered splice site)
359363REGIONInteraction with USP7.might get lost (downstream of altered splice site)
361361MUTAGENG->E: Abolishes binding to USP7.might get lost (downstream of altered splice site)
362362MUTAGENS->A: Abolishes binding to USP7.might get lost (downstream of altered splice site)
368387REGIONBasic (repression of DNA-binding).might get lost (downstream of altered splice site)
370370MOD_RESN6-methyllysine; by SMYD2; alternate.might get lost (downstream of altered splice site)
370370MUTAGENK->R: Induces a decrease in methylation by SMYD2.might get lost (downstream of altered splice site)
370370MOD_RESN6,N6-dimethyllysine; alternate.might get lost (downstream of altered splice site)
370372MOTIF[KR]-[STA]-K motif.might get lost (downstream of altered splice site)
372372MOD_RESN6-methyllysine; by SETD7.might get lost (downstream of altered splice site)
372372MUTAGENK->R: Induces a decrease in protein stabilization.might get lost (downstream of altered splice site)
373373MOD_RESN6,N6-dimethyllysine; by EHMT1 and EHMT2; alternate.might get lost (downstream of altered splice site)
373373MUTAGENK->R: Abolishes dimethylation by EHMT1 and EHMT2.might get lost (downstream of altered splice site)
373373MOD_RESN6-acetyllysine; alternate.might get lost (downstream of altered splice site)
375380HELIXmight get lost (downstream of altered splice site)
381381MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
382382MUTAGENK->R: Abolishes monomethylation by SETD8.might get lost (downstream of altered splice site)
382382MUTAGENK->A: Abolishes acetylation by CREBBP.might get lost (downstream of altered splice site)
382382MOD_RESN6-acetyllysine; alternate.might get lost (downstream of altered splice site)
382382MOD_RESN6-methyllysine; by SETD8; alternate.might get lost (downstream of altered splice site)
382385TURNmight get lost (downstream of altered splice site)
383383MUTAGENL->A: Abolishes S-315 phosphorylation by CDK2/cyclin A.might get lost (downstream of altered splice site)
385385MUTAGENF->A: Reduced SUMO1 conjugation.might get lost (downstream of altered splice site)
386386CROSSLNKGlycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO).might get lost (downstream of altered splice site)
386386MUTAGENK->A: Abolishes SUMO1 conjugation, in vitro and in vivo.might get lost (downstream of altered splice site)
387387MUTAGENT->A: No effect SUMO1 conjugation.might get lost (downstream of altered splice site)
388388MUTAGENE->A: Abolishes SUMO1 conjugation.might get lost (downstream of altered splice site)
392392MOD_RESPhosphoserine; by CK2, CDK2 and NUAK1.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 858 / 858
position (AA) of stopcodon in wt / mu AA sequence 286 / 286
position of stopcodon in wt / mu cDNA 858 / 858
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 1 / 1
chromosome 17
strand -1
last intron/exon boundary 783
theoretical NMD boundary in CDS 732
length of CDS 858
coding sequence (CDS) position 215
cDNA position
(for ins/del: last normal base / first normal base)		 215
gDNA position
(for ins/del: last normal base / first normal base)		 11385
chromosomal position
(for ins/del: last normal base / first normal base)		 7579472
original gDNA sequence snippet AATGCCAGAGGCTGCTCCCCCCGTGGCCCCTGCACCAGCAG
altered gDNA sequence snippet AATGCCAGAGGCTGCTCCCCGCGTGGCCCCTGCACCAGCAG
original cDNA sequence snippet AATGCCAGAGGCTGCTCCCCCCGTGGCCCCTGCACCAGCAG
altered cDNA sequence snippet AATGCCAGAGGCTGCTCCCCGCGTGGCCCCTGCACCAGCAG
wildtype AA sequence MEEPQSDPSV EPPLSQETFS DLWKLLPENN VLSPLPSQAM DDLMLSPDDI EQWFTEDPGP
DEAPRMPEAA PPVAPAPAAP TPAAPAPAPS WPLSSSVPSQ KTYQGSYGFR LGFLHSGTAK
SVTCTYSPAL NKMFCQLAKT CPVQLWVDST PPPGTRVRAM AIYKQSQHMT EVVRRCPHHE
RCSDSDGLAP PQHLIRVEGN LRVEYLDDRN TFRHSVVVPY EPPEVGSDCT TIHYNYMCNS
SCMGGMNRRP ILTIITLEDS RPRQVDHLRS GVQDSLANIA KSHLY*
mutated AA sequence MEEPQSDPSV EPPLSQETFS DLWKLLPENN VLSPLPSQAM DDLMLSPDDI EQWFTEDPGP
DEAPRMPEAA PRVAPAPAAP TPAAPAPAPS WPLSSSVPSQ KTYQGSYGFR LGFLHSGTAK
SVTCTYSPAL NKMFCQLAKT CPVQLWVDST PPPGTRVRAM AIYKQSQHMT EVVRRCPHHE
RCSDSDGLAP PQHLIRVEGN LRVEYLDDRN TFRHSVVVPY EPPEVGSDCT TIHYNYMCNS
SCMGGMNRRP ILTIITLEDS RPRQVDHLRS GVQDSLANIA KSHLY*
speed 0.85 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999988959823 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM961374)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr17:7579472G>CN/A show variant in all transcripts   IGV
HGNC symbol TP53
Ensembl transcript ID ENST00000359597
Genbank transcript ID N/A
UniProt peptide P04637
alteration type single base exchange
alteration region CDS
DNA changes c.215C>G
cDNA.215C>G
g.11385C>G
AA changes P72R Score: 103 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 72
frameshift no
known variant Reference ID: rs1042522
databasehomozygous (C/C)heterozygousallele carriers
1000G79111371928
ExAC27306-218455461

known disease mutation at this position, please check HGMD for details (HGMD ID CM961374)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.6420.001
3.310.045
(flanking)0.4870.01
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained113810.39mu: CTGCTCCCCGCGTGG GCTC|cccg
distance from splice site 119
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      72DEAPRMPEAAPPVAPAPAAPTPAA
mutated  not conserved    72DEAPRMPEAAPRVAPAPAAPTPA
Ptroglodytes  all identical  ENSPTRG00000008703  72DEAPRMPEAAPPVAPAPAAPTPA
Mmulatta  all identical  ENSMMUG00000008639  72DEAPRMSEAAPPMAPTPAAPTPA
Fcatus  not conserved  ENSFCAG00000009623  69DDASGMS-----AVPAPAAPAPA
Mmusculus  not conserved  ENSMUSG00000059552  69SEALRVSGAPAAQDPVTETPGPV
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no alignment  FBgn0039044  n/a
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000025055  55---------PLAPDMTVLQEG
protein features
start (aa)end (aa)featuredetails 
183REGIONInteraction with HRMT1L2.lost
66110REGIONInteraction with WWOX.lost
9999MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
100370REGIONInteraction with HIPK1 (By similarity).might get lost (downstream of altered splice site)
102292DNA_BINDmight get lost (downstream of altered splice site)
105108TURNmight get lost (downstream of altered splice site)
110112STRANDmight get lost (downstream of altered splice site)
113236REGIONRequired for interaction with FBXO42.might get lost (downstream of altered splice site)
116292REGIONInteraction with AXIN1 (By similarity).might get lost (downstream of altered splice site)
118120STRANDmight get lost (downstream of altered splice site)
120120SITEInteraction with DNA.might get lost (downstream of altered splice site)
121123TURNmight get lost (downstream of altered splice site)
124127STRANDmight get lost (downstream of altered splice site)
128131TURNmight get lost (downstream of altered splice site)
132135STRANDmight get lost (downstream of altered splice site)
141146STRANDmight get lost (downstream of altered splice site)
156165STRANDmight get lost (downstream of altered splice site)
166168HELIXmight get lost (downstream of altered splice site)
176176METALZinc.might get lost (downstream of altered splice site)
177180HELIXmight get lost (downstream of altered splice site)
179179METALZinc.might get lost (downstream of altered splice site)
181183STRANDmight get lost (downstream of altered splice site)
183183MUTAGENS->A: Abolishes strongly phosphorylation.might get lost (downstream of altered splice site)
183183MOD_RESPhosphoserine; by AURKB.might get lost (downstream of altered splice site)
183183MUTAGENS->E: Inhibits slightly its transcriptional activity.might get lost (downstream of altered splice site)
187189STRANDmight get lost (downstream of altered splice site)
194199STRANDmight get lost (downstream of altered splice site)
204207STRANDmight get lost (downstream of altered splice site)
209211TURNmight get lost (downstream of altered splice site)
214219STRANDmight get lost (downstream of altered splice site)
225227TURNmight get lost (downstream of altered splice site)
228236STRANDmight get lost (downstream of altered splice site)
238238METALZinc.might get lost (downstream of altered splice site)
240242HELIXmight get lost (downstream of altered splice site)
241248REGIONInteracts with the 53BP2 SH3 domain.might get lost (downstream of altered splice site)
242242METALZinc.might get lost (downstream of altered splice site)
243248TURNmight get lost (downstream of altered splice site)
251258STRANDmight get lost (downstream of altered splice site)
256294REGIONInteraction with E4F1.might get lost (downstream of altered splice site)
260262STRANDmight get lost (downstream of altered splice site)
264274STRANDmight get lost (downstream of altered splice site)
269269MOD_RESPhosphoserine; by AURKB.might get lost (downstream of altered splice site)
269269MUTAGENS->A: Abolishes strongly phosphorylation.might get lost (downstream of altered splice site)
269269MUTAGENS->E: Inhibits strongly its transcriptional activity.might get lost (downstream of altered splice site)
273280REGIONInteraction with DNA.might get lost (downstream of altered splice site)
278287HELIXmight get lost (downstream of altered splice site)
284284MOD_RESPhosphothreonine; by AURKB.might get lost (downstream of altered splice site)
284284MUTAGENT->E: Inhibits strongly its transcriptional activity.might get lost (downstream of altered splice site)
288290HELIXmight get lost (downstream of altered splice site)
291291CROSSLNKGlycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin).might get lost (downstream of altered splice site)
291292MUTAGENKK->RR: Abolishes polyubiquitination by MKRN1.might get lost (downstream of altered splice site)
292292MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
292292CROSSLNKGlycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin).might get lost (downstream of altered splice site)
300393REGIONInteraction with CARM1.might get lost (downstream of altered splice site)
305305MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
305321MOTIFBipartite nuclear localization signal.might get lost (downstream of altered splice site)
313313MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
314314MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
315315MOD_RESPhosphoserine; by AURKA, CDK1 and CDK2.might get lost (downstream of altered splice site)
319319MUTAGENK->A: Loss of nuclear localization; when associated with A-320 and A-321.might get lost (downstream of altered splice site)
319360REGIONInteraction with HIPK2.might get lost (downstream of altered splice site)
320320MUTAGENK->A: Loss of nuclear localization; when associated with A-319 and A-321.might get lost (downstream of altered splice site)
321321MUTAGENK->A: Loss of nuclear localization; when associated with A-319 and A-320.might get lost (downstream of altered splice site)
321324HELIXmight get lost (downstream of altered splice site)
325356REGIONOligomerization.might get lost (downstream of altered splice site)
327334STRANDmight get lost (downstream of altered splice site)
335354HELIXmight get lost (downstream of altered splice site)
339350MOTIFNuclear export signal.might get lost (downstream of altered splice site)
359359MUTAGENP->D: Abolishes binding to USP7.might get lost (downstream of altered splice site)
359363REGIONInteraction with USP7.might get lost (downstream of altered splice site)
361361MUTAGENG->E: Abolishes binding to USP7.might get lost (downstream of altered splice site)
362362MUTAGENS->A: Abolishes binding to USP7.might get lost (downstream of altered splice site)
368387REGIONBasic (repression of DNA-binding).might get lost (downstream of altered splice site)
370370MOD_RESN6-methyllysine; by SMYD2; alternate.might get lost (downstream of altered splice site)
370370MUTAGENK->R: Induces a decrease in methylation by SMYD2.might get lost (downstream of altered splice site)
370370MOD_RESN6,N6-dimethyllysine; alternate.might get lost (downstream of altered splice site)
370372MOTIF[KR]-[STA]-K motif.might get lost (downstream of altered splice site)
372372MOD_RESN6-methyllysine; by SETD7.might get lost (downstream of altered splice site)
372372MUTAGENK->R: Induces a decrease in protein stabilization.might get lost (downstream of altered splice site)
373373MOD_RESN6,N6-dimethyllysine; by EHMT1 and EHMT2; alternate.might get lost (downstream of altered splice site)
373373MUTAGENK->R: Abolishes dimethylation by EHMT1 and EHMT2.might get lost (downstream of altered splice site)
373373MOD_RESN6-acetyllysine; alternate.might get lost (downstream of altered splice site)
375380HELIXmight get lost (downstream of altered splice site)
381381MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
382382MUTAGENK->R: Abolishes monomethylation by SETD8.might get lost (downstream of altered splice site)
382382MUTAGENK->A: Abolishes acetylation by CREBBP.might get lost (downstream of altered splice site)
382382MOD_RESN6-acetyllysine; alternate.might get lost (downstream of altered splice site)
382382MOD_RESN6-methyllysine; by SETD8; alternate.might get lost (downstream of altered splice site)
382385TURNmight get lost (downstream of altered splice site)
383383MUTAGENL->A: Abolishes S-315 phosphorylation by CDK2/cyclin A.might get lost (downstream of altered splice site)
385385MUTAGENF->A: Reduced SUMO1 conjugation.might get lost (downstream of altered splice site)
386386CROSSLNKGlycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO).might get lost (downstream of altered splice site)
386386MUTAGENK->A: Abolishes SUMO1 conjugation, in vitro and in vivo.might get lost (downstream of altered splice site)
387387MUTAGENT->A: No effect SUMO1 conjugation.might get lost (downstream of altered splice site)
388388MUTAGENE->A: Abolishes SUMO1 conjugation.might get lost (downstream of altered splice site)
392392MOD_RESPhosphoserine; by CK2, CDK2 and NUAK1.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1032 / 1032
position (AA) of stopcodon in wt / mu AA sequence 344 / 344
position of stopcodon in wt / mu cDNA 1032 / 1032
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 1 / 1
chromosome 17
strand -1
last intron/exon boundary 994
theoretical NMD boundary in CDS 943
length of CDS 1032
coding sequence (CDS) position 215
cDNA position
(for ins/del: last normal base / first normal base)		 215
gDNA position
(for ins/del: last normal base / first normal base)		 11385
chromosomal position
(for ins/del: last normal base / first normal base)		 7579472
original gDNA sequence snippet AATGCCAGAGGCTGCTCCCCCCGTGGCCCCTGCACCAGCAG
altered gDNA sequence snippet AATGCCAGAGGCTGCTCCCCGCGTGGCCCCTGCACCAGCAG
original cDNA sequence snippet AATGCCAGAGGCTGCTCCCCCCGTGGCCCCTGCACCAGCAG
altered cDNA sequence snippet AATGCCAGAGGCTGCTCCCCGCGTGGCCCCTGCACCAGCAG
wildtype AA sequence MEEPQSDPSV EPPLSQETFS DLWKLLPENN VLSPLPSQAM DDLMLSPDDI EQWFTEDPGP
DEAPRMPEAA PPVAPAPAAP TPAAPAPAPS WPLSSSVPSQ KTYQGSYGFR LGFLHSGTAK
SVTCTYSPAL NKMFCQLAKT CPVQLWVDST PPPGTRVRAM AIYKQSQHMT EVVRRCPHHE
RCSDSDGLAP PQHLIRVEGN LRVEYLDDRN TFRHSVVVPY EPPEVGSDCT TIHYNYMCNS
SCMGGMNRRP ILTIITLEDS SGNLLGRNSF EVRVCACPGR DRRTEEENLR KKGEPHHELP
PGSTKRALPN NTSSSPQPKK KPLDGEYFTL QKTFPARHGG SHL*
mutated AA sequence MEEPQSDPSV EPPLSQETFS DLWKLLPENN VLSPLPSQAM DDLMLSPDDI EQWFTEDPGP
DEAPRMPEAA PRVAPAPAAP TPAAPAPAPS WPLSSSVPSQ KTYQGSYGFR LGFLHSGTAK
SVTCTYSPAL NKMFCQLAKT CPVQLWVDST PPPGTRVRAM AIYKQSQHMT EVVRRCPHHE
RCSDSDGLAP PQHLIRVEGN LRVEYLDDRN TFRHSVVVPY EPPEVGSDCT TIHYNYMCNS
SCMGGMNRRP ILTIITLEDS SGNLLGRNSF EVRVCACPGR DRRTEEENLR KKGEPHHELP
PGSTKRALPN NTSSSPQPKK KPLDGEYFTL QKTFPARHGG SHL*
speed 0.88 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999988959823 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM961374)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr17:7579472G>CN/A show variant in all transcripts   IGV
HGNC symbol TP53
Ensembl transcript ID ENST00000269305
Genbank transcript ID NM_000546
UniProt peptide P04637
alteration type single base exchange
alteration region CDS
DNA changes c.215C>G
cDNA.405C>G
g.11385C>G
AA changes P72R Score: 103 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 72
frameshift no
known variant Reference ID: rs1042522
databasehomozygous (C/C)heterozygousallele carriers
1000G79111371928
ExAC27306-218455461

known disease mutation at this position, please check HGMD for details (HGMD ID CM961374)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.6420.001
3.310.045
(flanking)0.4870.01
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained113810.39mu: CTGCTCCCCGCGTGG GCTC|cccg
distance from splice site 119
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      72DEAPRMPEAAPPVAPAPAAPTPAA
mutated  not conserved    72DEAPRMPEAAPRVAPAPAAPTPA
Ptroglodytes  all identical  ENSPTRG00000008703  72DEAPRMPEAAPPVAPAPAAPTPA
Mmulatta  all identical  ENSMMUG00000008639  72DEAPRMSEAAPPMAPTPAAPTPA
Fcatus  not conserved  ENSFCAG00000009623  69DDASGMS-----AVPAPAAPAPA
Mmusculus  not conserved  ENSMUSG00000059552  69SEALRVSGAPAAQDPVTETPGPV
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no alignment  FBgn0039044  n/a
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000025055  55---------PLAPDMTVLQEG
protein features
start (aa)end (aa)featuredetails 
183REGIONInteraction with HRMT1L2.lost
66110REGIONInteraction with WWOX.lost
9999MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
100370REGIONInteraction with HIPK1 (By similarity).might get lost (downstream of altered splice site)
102292DNA_BINDmight get lost (downstream of altered splice site)
105108TURNmight get lost (downstream of altered splice site)
110112STRANDmight get lost (downstream of altered splice site)
113236REGIONRequired for interaction with FBXO42.might get lost (downstream of altered splice site)
116292REGIONInteraction with AXIN1 (By similarity).might get lost (downstream of altered splice site)
118120STRANDmight get lost (downstream of altered splice site)
120120SITEInteraction with DNA.might get lost (downstream of altered splice site)
121123TURNmight get lost (downstream of altered splice site)
124127STRANDmight get lost (downstream of altered splice site)
128131TURNmight get lost (downstream of altered splice site)
132135STRANDmight get lost (downstream of altered splice site)
141146STRANDmight get lost (downstream of altered splice site)
156165STRANDmight get lost (downstream of altered splice site)
166168HELIXmight get lost (downstream of altered splice site)
176176METALZinc.might get lost (downstream of altered splice site)
177180HELIXmight get lost (downstream of altered splice site)
179179METALZinc.might get lost (downstream of altered splice site)
181183STRANDmight get lost (downstream of altered splice site)
183183MUTAGENS->A: Abolishes strongly phosphorylation.might get lost (downstream of altered splice site)
183183MOD_RESPhosphoserine; by AURKB.might get lost (downstream of altered splice site)
183183MUTAGENS->E: Inhibits slightly its transcriptional activity.might get lost (downstream of altered splice site)
187189STRANDmight get lost (downstream of altered splice site)
194199STRANDmight get lost (downstream of altered splice site)
204207STRANDmight get lost (downstream of altered splice site)
209211TURNmight get lost (downstream of altered splice site)
214219STRANDmight get lost (downstream of altered splice site)
225227TURNmight get lost (downstream of altered splice site)
228236STRANDmight get lost (downstream of altered splice site)
238238METALZinc.might get lost (downstream of altered splice site)
240242HELIXmight get lost (downstream of altered splice site)
241248REGIONInteracts with the 53BP2 SH3 domain.might get lost (downstream of altered splice site)
242242METALZinc.might get lost (downstream of altered splice site)
243248TURNmight get lost (downstream of altered splice site)
251258STRANDmight get lost (downstream of altered splice site)
256294REGIONInteraction with E4F1.might get lost (downstream of altered splice site)
260262STRANDmight get lost (downstream of altered splice site)
264274STRANDmight get lost (downstream of altered splice site)
269269MOD_RESPhosphoserine; by AURKB.might get lost (downstream of altered splice site)
269269MUTAGENS->A: Abolishes strongly phosphorylation.might get lost (downstream of altered splice site)
269269MUTAGENS->E: Inhibits strongly its transcriptional activity.might get lost (downstream of altered splice site)
273280REGIONInteraction with DNA.might get lost (downstream of altered splice site)
278287HELIXmight get lost (downstream of altered splice site)
284284MOD_RESPhosphothreonine; by AURKB.might get lost (downstream of altered splice site)
284284MUTAGENT->E: Inhibits strongly its transcriptional activity.might get lost (downstream of altered splice site)
288290HELIXmight get lost (downstream of altered splice site)
291291CROSSLNKGlycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin).might get lost (downstream of altered splice site)
291292MUTAGENKK->RR: Abolishes polyubiquitination by MKRN1.might get lost (downstream of altered splice site)
292292MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
292292CROSSLNKGlycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin).might get lost (downstream of altered splice site)
300393REGIONInteraction with CARM1.might get lost (downstream of altered splice site)
305305MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
305321MOTIFBipartite nuclear localization signal.might get lost (downstream of altered splice site)
313313MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
314314MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
315315MOD_RESPhosphoserine; by AURKA, CDK1 and CDK2.might get lost (downstream of altered splice site)
319319MUTAGENK->A: Loss of nuclear localization; when associated with A-320 and A-321.might get lost (downstream of altered splice site)
319360REGIONInteraction with HIPK2.might get lost (downstream of altered splice site)
320320MUTAGENK->A: Loss of nuclear localization; when associated with A-319 and A-321.might get lost (downstream of altered splice site)
321321MUTAGENK->A: Loss of nuclear localization; when associated with A-319 and A-320.might get lost (downstream of altered splice site)
321324HELIXmight get lost (downstream of altered splice site)
325356REGIONOligomerization.might get lost (downstream of altered splice site)
327334STRANDmight get lost (downstream of altered splice site)
335354HELIXmight get lost (downstream of altered splice site)
339350MOTIFNuclear export signal.might get lost (downstream of altered splice site)
359359MUTAGENP->D: Abolishes binding to USP7.might get lost (downstream of altered splice site)
359363REGIONInteraction with USP7.might get lost (downstream of altered splice site)
361361MUTAGENG->E: Abolishes binding to USP7.might get lost (downstream of altered splice site)
362362MUTAGENS->A: Abolishes binding to USP7.might get lost (downstream of altered splice site)
368387REGIONBasic (repression of DNA-binding).might get lost (downstream of altered splice site)
370370MOD_RESN6-methyllysine; by SMYD2; alternate.might get lost (downstream of altered splice site)
370370MUTAGENK->R: Induces a decrease in methylation by SMYD2.might get lost (downstream of altered splice site)
370370MOD_RESN6,N6-dimethyllysine; alternate.might get lost (downstream of altered splice site)
370372MOTIF[KR]-[STA]-K motif.might get lost (downstream of altered splice site)
372372MOD_RESN6-methyllysine; by SETD7.might get lost (downstream of altered splice site)
372372MUTAGENK->R: Induces a decrease in protein stabilization.might get lost (downstream of altered splice site)
373373MOD_RESN6,N6-dimethyllysine; by EHMT1 and EHMT2; alternate.might get lost (downstream of altered splice site)
373373MUTAGENK->R: Abolishes dimethylation by EHMT1 and EHMT2.might get lost (downstream of altered splice site)
373373MOD_RESN6-acetyllysine; alternate.might get lost (downstream of altered splice site)
375380HELIXmight get lost (downstream of altered splice site)
381381MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
382382MUTAGENK->R: Abolishes monomethylation by SETD8.might get lost (downstream of altered splice site)
382382MUTAGENK->A: Abolishes acetylation by CREBBP.might get lost (downstream of altered splice site)
382382MOD_RESN6-acetyllysine; alternate.might get lost (downstream of altered splice site)
382382MOD_RESN6-methyllysine; by SETD8; alternate.might get lost (downstream of altered splice site)
382385TURNmight get lost (downstream of altered splice site)
383383MUTAGENL->A: Abolishes S-315 phosphorylation by CDK2/cyclin A.might get lost (downstream of altered splice site)
385385MUTAGENF->A: Reduced SUMO1 conjugation.might get lost (downstream of altered splice site)
386386CROSSLNKGlycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO).might get lost (downstream of altered splice site)
386386MUTAGENK->A: Abolishes SUMO1 conjugation, in vitro and in vivo.might get lost (downstream of altered splice site)
387387MUTAGENT->A: No effect SUMO1 conjugation.might get lost (downstream of altered splice site)
388388MUTAGENE->A: Abolishes SUMO1 conjugation.might get lost (downstream of altered splice site)
392392MOD_RESPhosphoserine; by CK2, CDK2 and NUAK1.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1182 / 1182
position (AA) of stopcodon in wt / mu AA sequence 394 / 394
position of stopcodon in wt / mu cDNA 1372 / 1372
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 191 / 191
chromosome 17
strand -1
last intron/exon boundary 1291
theoretical NMD boundary in CDS 1050
length of CDS 1182
coding sequence (CDS) position 215
cDNA position
(for ins/del: last normal base / first normal base)		 405
gDNA position
(for ins/del: last normal base / first normal base)		 11385
chromosomal position
(for ins/del: last normal base / first normal base)		 7579472
original gDNA sequence snippet AATGCCAGAGGCTGCTCCCCCCGTGGCCCCTGCACCAGCAG
altered gDNA sequence snippet AATGCCAGAGGCTGCTCCCCGCGTGGCCCCTGCACCAGCAG
original cDNA sequence snippet AATGCCAGAGGCTGCTCCCCCCGTGGCCCCTGCACCAGCAG
altered cDNA sequence snippet AATGCCAGAGGCTGCTCCCCGCGTGGCCCCTGCACCAGCAG
wildtype AA sequence MEEPQSDPSV EPPLSQETFS DLWKLLPENN VLSPLPSQAM DDLMLSPDDI EQWFTEDPGP
DEAPRMPEAA PPVAPAPAAP TPAAPAPAPS WPLSSSVPSQ KTYQGSYGFR LGFLHSGTAK
SVTCTYSPAL NKMFCQLAKT CPVQLWVDST PPPGTRVRAM AIYKQSQHMT EVVRRCPHHE
RCSDSDGLAP PQHLIRVEGN LRVEYLDDRN TFRHSVVVPY EPPEVGSDCT TIHYNYMCNS
SCMGGMNRRP ILTIITLEDS SGNLLGRNSF EVRVCACPGR DRRTEEENLR KKGEPHHELP
PGSTKRALPN NTSSSPQPKK KPLDGEYFTL QIRGRERFEM FRELNEALEL KDAQAGKEPG
GSRAHSSHLK SKKGQSTSRH KKLMFKTEGP DSD*
mutated AA sequence MEEPQSDPSV EPPLSQETFS DLWKLLPENN VLSPLPSQAM DDLMLSPDDI EQWFTEDPGP
DEAPRMPEAA PRVAPAPAAP TPAAPAPAPS WPLSSSVPSQ KTYQGSYGFR LGFLHSGTAK
SVTCTYSPAL NKMFCQLAKT CPVQLWVDST PPPGTRVRAM AIYKQSQHMT EVVRRCPHHE
RCSDSDGLAP PQHLIRVEGN LRVEYLDDRN TFRHSVVVPY EPPEVGSDCT TIHYNYMCNS
SCMGGMNRRP ILTIITLEDS SGNLLGRNSF EVRVCACPGR DRRTEEENLR KKGEPHHELP
PGSTKRALPN NTSSSPQPKK KPLDGEYFTL QIRGRERFEM FRELNEALEL KDAQAGKEPG
GSRAHSSHLK SKKGQSTSRH KKLMFKTEGP DSD*
speed 0.98 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999988959823 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM961374)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr17:7579472G>CN/A show variant in all transcripts   IGV
HGNC symbol TP53
Ensembl transcript ID ENST00000455263
Genbank transcript ID NM_001126113
UniProt peptide P04637
alteration type single base exchange
alteration region CDS
DNA changes c.215C>G
cDNA.348C>G
g.11385C>G
AA changes P72R Score: 103 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 72
frameshift no
known variant Reference ID: rs1042522
databasehomozygous (C/C)heterozygousallele carriers
1000G79111371928
ExAC27306-218455461

known disease mutation at this position, please check HGMD for details (HGMD ID CM961374)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.6420.001
3.310.045
(flanking)0.4870.01
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained113810.39mu: CTGCTCCCCGCGTGG GCTC|cccg
distance from splice site 119
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      72DEAPRMPEAAPPVAPAPAAPTPAA
mutated  not conserved    72DEAPRMPEAAPRVAPAPAAPTPA
Ptroglodytes  all identical  ENSPTRG00000008703  72DEAPRMPEAAPPVAPAPAAPTPA
Mmulatta  all identical  ENSMMUG00000008639  72DEAPRMSEAAPPMAPTPAAPTPA
Fcatus  not conserved  ENSFCAG00000009623  69DDASGMS-----AVPAPAAPAPA
Mmusculus  not conserved  ENSMUSG00000059552  69SEALRVSGAPAAQDPVTETPGPV
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no alignment  FBgn0039044  n/a
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000025055  55---------PLAPDMTVLQEG
protein features
start (aa)end (aa)featuredetails 
183REGIONInteraction with HRMT1L2.lost
66110REGIONInteraction with WWOX.lost
9999MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
100370REGIONInteraction with HIPK1 (By similarity).might get lost (downstream of altered splice site)
102292DNA_BINDmight get lost (downstream of altered splice site)
105108TURNmight get lost (downstream of altered splice site)
110112STRANDmight get lost (downstream of altered splice site)
113236REGIONRequired for interaction with FBXO42.might get lost (downstream of altered splice site)
116292REGIONInteraction with AXIN1 (By similarity).might get lost (downstream of altered splice site)
118120STRANDmight get lost (downstream of altered splice site)
120120SITEInteraction with DNA.might get lost (downstream of altered splice site)
121123TURNmight get lost (downstream of altered splice site)
124127STRANDmight get lost (downstream of altered splice site)
128131TURNmight get lost (downstream of altered splice site)
132135STRANDmight get lost (downstream of altered splice site)
141146STRANDmight get lost (downstream of altered splice site)
156165STRANDmight get lost (downstream of altered splice site)
166168HELIXmight get lost (downstream of altered splice site)
176176METALZinc.might get lost (downstream of altered splice site)
177180HELIXmight get lost (downstream of altered splice site)
179179METALZinc.might get lost (downstream of altered splice site)
181183STRANDmight get lost (downstream of altered splice site)
183183MUTAGENS->A: Abolishes strongly phosphorylation.might get lost (downstream of altered splice site)
183183MOD_RESPhosphoserine; by AURKB.might get lost (downstream of altered splice site)
183183MUTAGENS->E: Inhibits slightly its transcriptional activity.might get lost (downstream of altered splice site)
187189STRANDmight get lost (downstream of altered splice site)
194199STRANDmight get lost (downstream of altered splice site)
204207STRANDmight get lost (downstream of altered splice site)
209211TURNmight get lost (downstream of altered splice site)
214219STRANDmight get lost (downstream of altered splice site)
225227TURNmight get lost (downstream of altered splice site)
228236STRANDmight get lost (downstream of altered splice site)
238238METALZinc.might get lost (downstream of altered splice site)
240242HELIXmight get lost (downstream of altered splice site)
241248REGIONInteracts with the 53BP2 SH3 domain.might get lost (downstream of altered splice site)
242242METALZinc.might get lost (downstream of altered splice site)
243248TURNmight get lost (downstream of altered splice site)
251258STRANDmight get lost (downstream of altered splice site)
256294REGIONInteraction with E4F1.might get lost (downstream of altered splice site)
260262STRANDmight get lost (downstream of altered splice site)
264274STRANDmight get lost (downstream of altered splice site)
269269MOD_RESPhosphoserine; by AURKB.might get lost (downstream of altered splice site)
269269MUTAGENS->A: Abolishes strongly phosphorylation.might get lost (downstream of altered splice site)
269269MUTAGENS->E: Inhibits strongly its transcriptional activity.might get lost (downstream of altered splice site)
273280REGIONInteraction with DNA.might get lost (downstream of altered splice site)
278287HELIXmight get lost (downstream of altered splice site)
284284MOD_RESPhosphothreonine; by AURKB.might get lost (downstream of altered splice site)
284284MUTAGENT->E: Inhibits strongly its transcriptional activity.might get lost (downstream of altered splice site)
288290HELIXmight get lost (downstream of altered splice site)
291291CROSSLNKGlycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin).might get lost (downstream of altered splice site)
291292MUTAGENKK->RR: Abolishes polyubiquitination by MKRN1.might get lost (downstream of altered splice site)
292292MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
292292CROSSLNKGlycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin).might get lost (downstream of altered splice site)
300393REGIONInteraction with CARM1.might get lost (downstream of altered splice site)
305305MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
305321MOTIFBipartite nuclear localization signal.might get lost (downstream of altered splice site)
313313MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
314314MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
315315MOD_RESPhosphoserine; by AURKA, CDK1 and CDK2.might get lost (downstream of altered splice site)
319319MUTAGENK->A: Loss of nuclear localization; when associated with A-320 and A-321.might get lost (downstream of altered splice site)
319360REGIONInteraction with HIPK2.might get lost (downstream of altered splice site)
320320MUTAGENK->A: Loss of nuclear localization; when associated with A-319 and A-321.might get lost (downstream of altered splice site)
321321MUTAGENK->A: Loss of nuclear localization; when associated with A-319 and A-320.might get lost (downstream of altered splice site)
321324HELIXmight get lost (downstream of altered splice site)
325356REGIONOligomerization.might get lost (downstream of altered splice site)
327334STRANDmight get lost (downstream of altered splice site)
335354HELIXmight get lost (downstream of altered splice site)
339350MOTIFNuclear export signal.might get lost (downstream of altered splice site)
359359MUTAGENP->D: Abolishes binding to USP7.might get lost (downstream of altered splice site)
359363REGIONInteraction with USP7.might get lost (downstream of altered splice site)
361361MUTAGENG->E: Abolishes binding to USP7.might get lost (downstream of altered splice site)
362362MUTAGENS->A: Abolishes binding to USP7.might get lost (downstream of altered splice site)
368387REGIONBasic (repression of DNA-binding).might get lost (downstream of altered splice site)
370370MOD_RESN6-methyllysine; by SMYD2; alternate.might get lost (downstream of altered splice site)
370370MUTAGENK->R: Induces a decrease in methylation by SMYD2.might get lost (downstream of altered splice site)
370370MOD_RESN6,N6-dimethyllysine; alternate.might get lost (downstream of altered splice site)
370372MOTIF[KR]-[STA]-K motif.might get lost (downstream of altered splice site)
372372MOD_RESN6-methyllysine; by SETD7.might get lost (downstream of altered splice site)
372372MUTAGENK->R: Induces a decrease in protein stabilization.might get lost (downstream of altered splice site)
373373MOD_RESN6,N6-dimethyllysine; by EHMT1 and EHMT2; alternate.might get lost (downstream of altered splice site)
373373MUTAGENK->R: Abolishes dimethylation by EHMT1 and EHMT2.might get lost (downstream of altered splice site)
373373MOD_RESN6-acetyllysine; alternate.might get lost (downstream of altered splice site)
375380HELIXmight get lost (downstream of altered splice site)
381381MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
382382MUTAGENK->R: Abolishes monomethylation by SETD8.might get lost (downstream of altered splice site)
382382MUTAGENK->A: Abolishes acetylation by CREBBP.might get lost (downstream of altered splice site)
382382MOD_RESN6-acetyllysine; alternate.might get lost (downstream of altered splice site)
382382MOD_RESN6-methyllysine; by SETD8; alternate.might get lost (downstream of altered splice site)
382385TURNmight get lost (downstream of altered splice site)
383383MUTAGENL->A: Abolishes S-315 phosphorylation by CDK2/cyclin A.might get lost (downstream of altered splice site)
385385MUTAGENF->A: Reduced SUMO1 conjugation.might get lost (downstream of altered splice site)
386386CROSSLNKGlycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO).might get lost (downstream of altered splice site)
386386MUTAGENK->A: Abolishes SUMO1 conjugation, in vitro and in vivo.might get lost (downstream of altered splice site)
387387MUTAGENT->A: No effect SUMO1 conjugation.might get lost (downstream of altered splice site)
388388MUTAGENE->A: Abolishes SUMO1 conjugation.might get lost (downstream of altered splice site)
392392MOD_RESPhosphoserine; by CK2, CDK2 and NUAK1.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1041 / 1041
position (AA) of stopcodon in wt / mu AA sequence 347 / 347
position of stopcodon in wt / mu cDNA 1174 / 1174
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 134 / 134
chromosome 17
strand -1
last intron/exon boundary 1294
theoretical NMD boundary in CDS 1110
length of CDS 1041
coding sequence (CDS) position 215
cDNA position
(for ins/del: last normal base / first normal base)		 348
gDNA position
(for ins/del: last normal base / first normal base)		 11385
chromosomal position
(for ins/del: last normal base / first normal base)		 7579472
original gDNA sequence snippet AATGCCAGAGGCTGCTCCCCCCGTGGCCCCTGCACCAGCAG
altered gDNA sequence snippet AATGCCAGAGGCTGCTCCCCGCGTGGCCCCTGCACCAGCAG
original cDNA sequence snippet AATGCCAGAGGCTGCTCCCCCCGTGGCCCCTGCACCAGCAG
altered cDNA sequence snippet AATGCCAGAGGCTGCTCCCCGCGTGGCCCCTGCACCAGCAG
wildtype AA sequence MEEPQSDPSV EPPLSQETFS DLWKLLPENN VLSPLPSQAM DDLMLSPDDI EQWFTEDPGP
DEAPRMPEAA PPVAPAPAAP TPAAPAPAPS WPLSSSVPSQ KTYQGSYGFR LGFLHSGTAK
SVTCTYSPAL NKMFCQLAKT CPVQLWVDST PPPGTRVRAM AIYKQSQHMT EVVRRCPHHE
RCSDSDGLAP PQHLIRVEGN LRVEYLDDRN TFRHSVVVPY EPPEVGSDCT TIHYNYMCNS
SCMGGMNRRP ILTIITLEDS SGNLLGRNSF EVRVCACPGR DRRTEEENLR KKGEPHHELP
PGSTKRALPN NTSSSPQPKK KPLDGEYFTL QMLLDLRWCY FLINSS*
mutated AA sequence MEEPQSDPSV EPPLSQETFS DLWKLLPENN VLSPLPSQAM DDLMLSPDDI EQWFTEDPGP
DEAPRMPEAA PRVAPAPAAP TPAAPAPAPS WPLSSSVPSQ KTYQGSYGFR LGFLHSGTAK
SVTCTYSPAL NKMFCQLAKT CPVQLWVDST PPPGTRVRAM AIYKQSQHMT EVVRRCPHHE
RCSDSDGLAP PQHLIRVEGN LRVEYLDDRN TFRHSVVVPY EPPEVGSDCT TIHYNYMCNS
SCMGGMNRRP ILTIITLEDS SGNLLGRNSF EVRVCACPGR DRRTEEENLR KKGEPHHELP
PGSTKRALPN NTSSSPQPKK KPLDGEYFTL QMLLDLRWCY FLINSS*
speed 0.81 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999988959823 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM961374)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr17:7579472G>CN/A show variant in all transcripts   IGV
HGNC symbol TP53
Ensembl transcript ID ENST00000420246
Genbank transcript ID NM_001126114
UniProt peptide P04637
alteration type single base exchange
alteration region CDS
DNA changes c.215C>G
cDNA.348C>G
g.11385C>G
AA changes P72R Score: 103 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 72
frameshift no
known variant Reference ID: rs1042522
databasehomozygous (C/C)heterozygousallele carriers
1000G79111371928
ExAC27306-218455461

known disease mutation at this position, please check HGMD for details (HGMD ID CM961374)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.6420.001
3.310.045
(flanking)0.4870.01
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained113810.39mu: CTGCTCCCCGCGTGG GCTC|cccg
distance from splice site 119
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      72DEAPRMPEAAPPVAPAPAAPTPAA
mutated  not conserved    72DEAPRMPEAAPRVAPAPAAPTPA
Ptroglodytes  all identical  ENSPTRG00000008703  72DEAPRMPEAAPPVAPAPAAPTPA
Mmulatta  all identical  ENSMMUG00000008639  72DEAPRMSEAAPPMAPTPAAPTPA
Fcatus  not conserved  ENSFCAG00000009623  69DDASGMS-----AVPAPAAPAPA
Mmusculus  not conserved  ENSMUSG00000059552  69SEALRVSGAPAAQDPVTETPGPV
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no alignment  FBgn0039044  n/a
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000025055  55---------PLAPDMTVLQEG
protein features
start (aa)end (aa)featuredetails 
183REGIONInteraction with HRMT1L2.lost
66110REGIONInteraction with WWOX.lost
9999MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
100370REGIONInteraction with HIPK1 (By similarity).might get lost (downstream of altered splice site)
102292DNA_BINDmight get lost (downstream of altered splice site)
105108TURNmight get lost (downstream of altered splice site)
110112STRANDmight get lost (downstream of altered splice site)
113236REGIONRequired for interaction with FBXO42.might get lost (downstream of altered splice site)
116292REGIONInteraction with AXIN1 (By similarity).might get lost (downstream of altered splice site)
118120STRANDmight get lost (downstream of altered splice site)
120120SITEInteraction with DNA.might get lost (downstream of altered splice site)
121123TURNmight get lost (downstream of altered splice site)
124127STRANDmight get lost (downstream of altered splice site)
128131TURNmight get lost (downstream of altered splice site)
132135STRANDmight get lost (downstream of altered splice site)
141146STRANDmight get lost (downstream of altered splice site)
156165STRANDmight get lost (downstream of altered splice site)
166168HELIXmight get lost (downstream of altered splice site)
176176METALZinc.might get lost (downstream of altered splice site)
177180HELIXmight get lost (downstream of altered splice site)
179179METALZinc.might get lost (downstream of altered splice site)
181183STRANDmight get lost (downstream of altered splice site)
183183MUTAGENS->A: Abolishes strongly phosphorylation.might get lost (downstream of altered splice site)
183183MOD_RESPhosphoserine; by AURKB.might get lost (downstream of altered splice site)
183183MUTAGENS->E: Inhibits slightly its transcriptional activity.might get lost (downstream of altered splice site)
187189STRANDmight get lost (downstream of altered splice site)
194199STRANDmight get lost (downstream of altered splice site)
204207STRANDmight get lost (downstream of altered splice site)
209211TURNmight get lost (downstream of altered splice site)
214219STRANDmight get lost (downstream of altered splice site)
225227TURNmight get lost (downstream of altered splice site)
228236STRANDmight get lost (downstream of altered splice site)
238238METALZinc.might get lost (downstream of altered splice site)
240242HELIXmight get lost (downstream of altered splice site)
241248REGIONInteracts with the 53BP2 SH3 domain.might get lost (downstream of altered splice site)
242242METALZinc.might get lost (downstream of altered splice site)
243248TURNmight get lost (downstream of altered splice site)
251258STRANDmight get lost (downstream of altered splice site)
256294REGIONInteraction with E4F1.might get lost (downstream of altered splice site)
260262STRANDmight get lost (downstream of altered splice site)
264274STRANDmight get lost (downstream of altered splice site)
269269MOD_RESPhosphoserine; by AURKB.might get lost (downstream of altered splice site)
269269MUTAGENS->A: Abolishes strongly phosphorylation.might get lost (downstream of altered splice site)
269269MUTAGENS->E: Inhibits strongly its transcriptional activity.might get lost (downstream of altered splice site)
273280REGIONInteraction with DNA.might get lost (downstream of altered splice site)
278287HELIXmight get lost (downstream of altered splice site)
284284MOD_RESPhosphothreonine; by AURKB.might get lost (downstream of altered splice site)
284284MUTAGENT->E: Inhibits strongly its transcriptional activity.might get lost (downstream of altered splice site)
288290HELIXmight get lost (downstream of altered splice site)
291291CROSSLNKGlycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin).might get lost (downstream of altered splice site)
291292MUTAGENKK->RR: Abolishes polyubiquitination by MKRN1.might get lost (downstream of altered splice site)
292292MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
292292CROSSLNKGlycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin).might get lost (downstream of altered splice site)
300393REGIONInteraction with CARM1.might get lost (downstream of altered splice site)
305305MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
305321MOTIFBipartite nuclear localization signal.might get lost (downstream of altered splice site)
313313MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
314314MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
315315MOD_RESPhosphoserine; by AURKA, CDK1 and CDK2.might get lost (downstream of altered splice site)
319319MUTAGENK->A: Loss of nuclear localization; when associated with A-320 and A-321.might get lost (downstream of altered splice site)
319360REGIONInteraction with HIPK2.might get lost (downstream of altered splice site)
320320MUTAGENK->A: Loss of nuclear localization; when associated with A-319 and A-321.might get lost (downstream of altered splice site)
321321MUTAGENK->A: Loss of nuclear localization; when associated with A-319 and A-320.might get lost (downstream of altered splice site)
321324HELIXmight get lost (downstream of altered splice site)
325356REGIONOligomerization.might get lost (downstream of altered splice site)
327334STRANDmight get lost (downstream of altered splice site)
335354HELIXmight get lost (downstream of altered splice site)
339350MOTIFNuclear export signal.might get lost (downstream of altered splice site)
359359MUTAGENP->D: Abolishes binding to USP7.might get lost (downstream of altered splice site)
359363REGIONInteraction with USP7.might get lost (downstream of altered splice site)
361361MUTAGENG->E: Abolishes binding to USP7.might get lost (downstream of altered splice site)
362362MUTAGENS->A: Abolishes binding to USP7.might get lost (downstream of altered splice site)
368387REGIONBasic (repression of DNA-binding).might get lost (downstream of altered splice site)
370370MOD_RESN6-methyllysine; by SMYD2; alternate.might get lost (downstream of altered splice site)
370370MUTAGENK->R: Induces a decrease in methylation by SMYD2.might get lost (downstream of altered splice site)
370370MOD_RESN6,N6-dimethyllysine; alternate.might get lost (downstream of altered splice site)
370372MOTIF[KR]-[STA]-K motif.might get lost (downstream of altered splice site)
372372MOD_RESN6-methyllysine; by SETD7.might get lost (downstream of altered splice site)
372372MUTAGENK->R: Induces a decrease in protein stabilization.might get lost (downstream of altered splice site)
373373MOD_RESN6,N6-dimethyllysine; by EHMT1 and EHMT2; alternate.might get lost (downstream of altered splice site)
373373MUTAGENK->R: Abolishes dimethylation by EHMT1 and EHMT2.might get lost (downstream of altered splice site)
373373MOD_RESN6-acetyllysine; alternate.might get lost (downstream of altered splice site)
375380HELIXmight get lost (downstream of altered splice site)
381381MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
382382MUTAGENK->R: Abolishes monomethylation by SETD8.might get lost (downstream of altered splice site)
382382MUTAGENK->A: Abolishes acetylation by CREBBP.might get lost (downstream of altered splice site)
382382MOD_RESN6-acetyllysine; alternate.might get lost (downstream of altered splice site)
382382MOD_RESN6-methyllysine; by SETD8; alternate.might get lost (downstream of altered splice site)
382385TURNmight get lost (downstream of altered splice site)
383383MUTAGENL->A: Abolishes S-315 phosphorylation by CDK2/cyclin A.might get lost (downstream of altered splice site)
385385MUTAGENF->A: Reduced SUMO1 conjugation.might get lost (downstream of altered splice site)
386386CROSSLNKGlycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO).might get lost (downstream of altered splice site)
386386MUTAGENK->A: Abolishes SUMO1 conjugation, in vitro and in vivo.might get lost (downstream of altered splice site)
387387MUTAGENT->A: No effect SUMO1 conjugation.might get lost (downstream of altered splice site)
388388MUTAGENE->A: Abolishes SUMO1 conjugation.might get lost (downstream of altered splice site)
392392MOD_RESPhosphoserine; by CK2, CDK2 and NUAK1.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1026 / 1026
position (AA) of stopcodon in wt / mu AA sequence 342 / 342
position of stopcodon in wt / mu cDNA 1159 / 1159
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 134 / 134
chromosome 17
strand -1
last intron/exon boundary 1367
theoretical NMD boundary in CDS 1183
length of CDS 1026
coding sequence (CDS) position 215
cDNA position
(for ins/del: last normal base / first normal base)		 348
gDNA position
(for ins/del: last normal base / first normal base)		 11385
chromosomal position
(for ins/del: last normal base / first normal base)		 7579472
original gDNA sequence snippet AATGCCAGAGGCTGCTCCCCCCGTGGCCCCTGCACCAGCAG
altered gDNA sequence snippet AATGCCAGAGGCTGCTCCCCGCGTGGCCCCTGCACCAGCAG
original cDNA sequence snippet AATGCCAGAGGCTGCTCCCCCCGTGGCCCCTGCACCAGCAG
altered cDNA sequence snippet AATGCCAGAGGCTGCTCCCCGCGTGGCCCCTGCACCAGCAG
wildtype AA sequence MEEPQSDPSV EPPLSQETFS DLWKLLPENN VLSPLPSQAM DDLMLSPDDI EQWFTEDPGP
DEAPRMPEAA PPVAPAPAAP TPAAPAPAPS WPLSSSVPSQ KTYQGSYGFR LGFLHSGTAK
SVTCTYSPAL NKMFCQLAKT CPVQLWVDST PPPGTRVRAM AIYKQSQHMT EVVRRCPHHE
RCSDSDGLAP PQHLIRVEGN LRVEYLDDRN TFRHSVVVPY EPPEVGSDCT TIHYNYMCNS
SCMGGMNRRP ILTIITLEDS SGNLLGRNSF EVRVCACPGR DRRTEEENLR KKGEPHHELP
PGSTKRALPN NTSSSPQPKK KPLDGEYFTL QDQTSFQKEN C*
mutated AA sequence MEEPQSDPSV EPPLSQETFS DLWKLLPENN VLSPLPSQAM DDLMLSPDDI EQWFTEDPGP
DEAPRMPEAA PRVAPAPAAP TPAAPAPAPS WPLSSSVPSQ KTYQGSYGFR LGFLHSGTAK
SVTCTYSPAL NKMFCQLAKT CPVQLWVDST PPPGTRVRAM AIYKQSQHMT EVVRRCPHHE
RCSDSDGLAP PQHLIRVEGN LRVEYLDDRN TFRHSVVVPY EPPEVGSDCT TIHYNYMCNS
SCMGGMNRRP ILTIITLEDS SGNLLGRNSF EVRVCACPGR DRRTEEENLR KKGEPHHELP
PGSTKRALPN NTSSSPQPKK KPLDGEYFTL QDQTSFQKEN C*
speed 1.22 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999988959823 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM961374)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr17:7579472G>CN/A show variant in all transcripts   IGV
HGNC symbol TP53
Ensembl transcript ID ENST00000445888
Genbank transcript ID N/A
UniProt peptide P04637
alteration type single base exchange
alteration region CDS
DNA changes c.215C>G
cDNA.351C>G
g.11385C>G
AA changes P72R Score: 103 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 72
frameshift no
known variant Reference ID: rs1042522
databasehomozygous (C/C)heterozygousallele carriers
1000G79111371928
ExAC27306-218455461

known disease mutation at this position, please check HGMD for details (HGMD ID CM961374)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.6420.001
3.310.045
(flanking)0.4870.01
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained113810.39mu: CTGCTCCCCGCGTGG GCTC|cccg
distance from splice site 119
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      72DEAPRMPEAAPPVAPAPAAPTPAA
mutated  not conserved    72DEAPRMPEAAPRVAPAPAAPTPA
Ptroglodytes  all identical  ENSPTRG00000008703  72DEAPRMPEAAPPVAPAPAAPTPA
Mmulatta  all identical  ENSMMUG00000008639  72DEAPRMSEAAPPMAPTPAAPTPA
Fcatus  not conserved  ENSFCAG00000009623  69DDASGMS-----AVPAPAAPAPA
Mmusculus  not conserved  ENSMUSG00000059552  69SEALRVSGAPAAQDPVTETPGPV
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no alignment  FBgn0039044  n/a
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000025055  55---------PLAPDMTVLQEG
protein features
start (aa)end (aa)featuredetails 
183REGIONInteraction with HRMT1L2.lost
66110REGIONInteraction with WWOX.lost
9999MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
100370REGIONInteraction with HIPK1 (By similarity).might get lost (downstream of altered splice site)
102292DNA_BINDmight get lost (downstream of altered splice site)
105108TURNmight get lost (downstream of altered splice site)
110112STRANDmight get lost (downstream of altered splice site)
113236REGIONRequired for interaction with FBXO42.might get lost (downstream of altered splice site)
116292REGIONInteraction with AXIN1 (By similarity).might get lost (downstream of altered splice site)
118120STRANDmight get lost (downstream of altered splice site)
120120SITEInteraction with DNA.might get lost (downstream of altered splice site)
121123TURNmight get lost (downstream of altered splice site)
124127STRANDmight get lost (downstream of altered splice site)
128131TURNmight get lost (downstream of altered splice site)
132135STRANDmight get lost (downstream of altered splice site)
141146STRANDmight get lost (downstream of altered splice site)
156165STRANDmight get lost (downstream of altered splice site)
166168HELIXmight get lost (downstream of altered splice site)
176176METALZinc.might get lost (downstream of altered splice site)
177180HELIXmight get lost (downstream of altered splice site)
179179METALZinc.might get lost (downstream of altered splice site)
181183STRANDmight get lost (downstream of altered splice site)
183183MUTAGENS->A: Abolishes strongly phosphorylation.might get lost (downstream of altered splice site)
183183MOD_RESPhosphoserine; by AURKB.might get lost (downstream of altered splice site)
183183MUTAGENS->E: Inhibits slightly its transcriptional activity.might get lost (downstream of altered splice site)
187189STRANDmight get lost (downstream of altered splice site)
194199STRANDmight get lost (downstream of altered splice site)
204207STRANDmight get lost (downstream of altered splice site)
209211TURNmight get lost (downstream of altered splice site)
214219STRANDmight get lost (downstream of altered splice site)
225227TURNmight get lost (downstream of altered splice site)
228236STRANDmight get lost (downstream of altered splice site)
238238METALZinc.might get lost (downstream of altered splice site)
240242HELIXmight get lost (downstream of altered splice site)
241248REGIONInteracts with the 53BP2 SH3 domain.might get lost (downstream of altered splice site)
242242METALZinc.might get lost (downstream of altered splice site)
243248TURNmight get lost (downstream of altered splice site)
251258STRANDmight get lost (downstream of altered splice site)
256294REGIONInteraction with E4F1.might get lost (downstream of altered splice site)
260262STRANDmight get lost (downstream of altered splice site)
264274STRANDmight get lost (downstream of altered splice site)
269269MOD_RESPhosphoserine; by AURKB.might get lost (downstream of altered splice site)
269269MUTAGENS->A: Abolishes strongly phosphorylation.might get lost (downstream of altered splice site)
269269MUTAGENS->E: Inhibits strongly its transcriptional activity.might get lost (downstream of altered splice site)
273280REGIONInteraction with DNA.might get lost (downstream of altered splice site)
278287HELIXmight get lost (downstream of altered splice site)
284284MOD_RESPhosphothreonine; by AURKB.might get lost (downstream of altered splice site)
284284MUTAGENT->E: Inhibits strongly its transcriptional activity.might get lost (downstream of altered splice site)
288290HELIXmight get lost (downstream of altered splice site)
291291CROSSLNKGlycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin).might get lost (downstream of altered splice site)
291292MUTAGENKK->RR: Abolishes polyubiquitination by MKRN1.might get lost (downstream of altered splice site)
292292MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
292292CROSSLNKGlycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin).might get lost (downstream of altered splice site)
300393REGIONInteraction with CARM1.might get lost (downstream of altered splice site)
305305MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
305321MOTIFBipartite nuclear localization signal.might get lost (downstream of altered splice site)
313313MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
314314MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
315315MOD_RESPhosphoserine; by AURKA, CDK1 and CDK2.might get lost (downstream of altered splice site)
319319MUTAGENK->A: Loss of nuclear localization; when associated with A-320 and A-321.might get lost (downstream of altered splice site)
319360REGIONInteraction with HIPK2.might get lost (downstream of altered splice site)
320320MUTAGENK->A: Loss of nuclear localization; when associated with A-319 and A-321.might get lost (downstream of altered splice site)
321321MUTAGENK->A: Loss of nuclear localization; when associated with A-319 and A-320.might get lost (downstream of altered splice site)
321324HELIXmight get lost (downstream of altered splice site)
325356REGIONOligomerization.might get lost (downstream of altered splice site)
327334STRANDmight get lost (downstream of altered splice site)
335354HELIXmight get lost (downstream of altered splice site)
339350MOTIFNuclear export signal.might get lost (downstream of altered splice site)
359359MUTAGENP->D: Abolishes binding to USP7.might get lost (downstream of altered splice site)
359363REGIONInteraction with USP7.might get lost (downstream of altered splice site)
361361MUTAGENG->E: Abolishes binding to USP7.might get lost (downstream of altered splice site)
362362MUTAGENS->A: Abolishes binding to USP7.might get lost (downstream of altered splice site)
368387REGIONBasic (repression of DNA-binding).might get lost (downstream of altered splice site)
370370MOD_RESN6-methyllysine; by SMYD2; alternate.might get lost (downstream of altered splice site)
370370MUTAGENK->R: Induces a decrease in methylation by SMYD2.might get lost (downstream of altered splice site)
370370MOD_RESN6,N6-dimethyllysine; alternate.might get lost (downstream of altered splice site)
370372MOTIF[KR]-[STA]-K motif.might get lost (downstream of altered splice site)
372372MOD_RESN6-methyllysine; by SETD7.might get lost (downstream of altered splice site)
372372MUTAGENK->R: Induces a decrease in protein stabilization.might get lost (downstream of altered splice site)
373373MOD_RESN6,N6-dimethyllysine; by EHMT1 and EHMT2; alternate.might get lost (downstream of altered splice site)
373373MUTAGENK->R: Abolishes dimethylation by EHMT1 and EHMT2.might get lost (downstream of altered splice site)
373373MOD_RESN6-acetyllysine; alternate.might get lost (downstream of altered splice site)
375380HELIXmight get lost (downstream of altered splice site)
381381MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
382382MUTAGENK->R: Abolishes monomethylation by SETD8.might get lost (downstream of altered splice site)
382382MUTAGENK->A: Abolishes acetylation by CREBBP.might get lost (downstream of altered splice site)
382382MOD_RESN6-acetyllysine; alternate.might get lost (downstream of altered splice site)
382382MOD_RESN6-methyllysine; by SETD8; alternate.might get lost (downstream of altered splice site)
382385TURNmight get lost (downstream of altered splice site)
383383MUTAGENL->A: Abolishes S-315 phosphorylation by CDK2/cyclin A.might get lost (downstream of altered splice site)
385385MUTAGENF->A: Reduced SUMO1 conjugation.might get lost (downstream of altered splice site)
386386CROSSLNKGlycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO).might get lost (downstream of altered splice site)
386386MUTAGENK->A: Abolishes SUMO1 conjugation, in vitro and in vivo.might get lost (downstream of altered splice site)
387387MUTAGENT->A: No effect SUMO1 conjugation.might get lost (downstream of altered splice site)
388388MUTAGENE->A: Abolishes SUMO1 conjugation.might get lost (downstream of altered splice site)
392392MOD_RESPhosphoserine; by CK2, CDK2 and NUAK1.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1182 / 1182
position (AA) of stopcodon in wt / mu AA sequence 394 / 394
position of stopcodon in wt / mu cDNA 1318 / 1318
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 137 / 137
chromosome 17
strand -1
last intron/exon boundary 1237
theoretical NMD boundary in CDS 1050
length of CDS 1182
coding sequence (CDS) position 215
cDNA position
(for ins/del: last normal base / first normal base)		 351
gDNA position
(for ins/del: last normal base / first normal base)		 11385
chromosomal position
(for ins/del: last normal base / first normal base)		 7579472
original gDNA sequence snippet AATGCCAGAGGCTGCTCCCCCCGTGGCCCCTGCACCAGCAG
altered gDNA sequence snippet AATGCCAGAGGCTGCTCCCCGCGTGGCCCCTGCACCAGCAG
original cDNA sequence snippet AATGCCAGAGGCTGCTCCCCCCGTGGCCCCTGCACCAGCAG
altered cDNA sequence snippet AATGCCAGAGGCTGCTCCCCGCGTGGCCCCTGCACCAGCAG
wildtype AA sequence MEEPQSDPSV EPPLSQETFS DLWKLLPENN VLSPLPSQAM DDLMLSPDDI EQWFTEDPGP
DEAPRMPEAA PPVAPAPAAP TPAAPAPAPS WPLSSSVPSQ KTYQGSYGFR LGFLHSGTAK
SVTCTYSPAL NKMFCQLAKT CPVQLWVDST PPPGTRVRAM AIYKQSQHMT EVVRRCPHHE
RCSDSDGLAP PQHLIRVEGN LRVEYLDDRN TFRHSVVVPY EPPEVGSDCT TIHYNYMCNS
SCMGGMNRRP ILTIITLEDS SGNLLGRNSF EVRVCACPGR DRRTEEENLR KKGEPHHELP
PGSTKRALPN NTSSSPQPKK KPLDGEYFTL QIRGRERFEM FRELNEALEL KDAQAGKEPG
GSRAHSSHLK SKKGQSTSRH KKLMFKTEGP DSD*
mutated AA sequence MEEPQSDPSV EPPLSQETFS DLWKLLPENN VLSPLPSQAM DDLMLSPDDI EQWFTEDPGP
DEAPRMPEAA PRVAPAPAAP TPAAPAPAPS WPLSSSVPSQ KTYQGSYGFR LGFLHSGTAK
SVTCTYSPAL NKMFCQLAKT CPVQLWVDST PPPGTRVRAM AIYKQSQHMT EVVRRCPHHE
RCSDSDGLAP PQHLIRVEGN LRVEYLDDRN TFRHSVVVPY EPPEVGSDCT TIHYNYMCNS
SCMGGMNRRP ILTIITLEDS SGNLLGRNSF EVRVCACPGR DRRTEEENLR KKGEPHHELP
PGSTKRALPN NTSSSPQPKK KPLDGEYFTL QIRGRERFEM FRELNEALEL KDAQAGKEPG
GSRAHSSHLK SKKGQSTSRH KKLMFKTEGP DSD*
speed 0.77 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
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Problems