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 8 transcript(s)...
Querying Taster for transcript #1: ENST00000432109
Querying Taster for transcript #2: ENST00000264275
Querying Taster for transcript #3: ENST00000392258
Querying Taster for transcript #4: ENST00000358485
Querying Taster for transcript #5: ENST00000323492
Querying Taster for transcript #6: ENST00000264274
Querying Taster for transcript #7: ENST00000392259
Querying Taster for transcript #8: ENST00000392266
MT speed 6.1 s - this script 6.3468 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
CASP8disease_causing_automatic9.57995032816248e-05simple_aaeaffected0T211Msingle base exchangers17860424show file
CASP8disease_causing_automatic0.000359704251868706simple_aaeaffected0T226Msingle base exchangers17860424show file
CASP8disease_causing_automatic0.000359704251868706simple_aaeaffected0T226Msingle base exchangers17860424show file
CASP8disease_causing_automatic0.892017299446454simple_aaeaffected0R307Wsingle base exchangers17860424show file
CASP8disease_causing_automatic0.892017299446454simple_aaeaffected0R233Wsingle base exchangers17860424show file
CASP8disease_causing_automatic0.980523950027478simple_aaeaffected0R248Wsingle base exchangers17860424show file
CASP8disease_causing_automatic0.980523950027478simple_aaeaffected0R265Wsingle base exchangers17860424show file
CASP8disease_causing_automatic0.999999999658292without_aaeaffected0single base exchangers17860424show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 9.57995032816248e-05 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM023571)
  • known disease mutation: rs7760 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr2:202141631C>TN/A show variant in all transcripts   IGV
HGNC symbol CASP8
Ensembl transcript ID ENST00000392266
Genbank transcript ID N/A
UniProt peptide Q14790
alteration type single base exchange
alteration region CDS
DNA changes c.632C>T
cDNA.867C>T
g.43466C>T
AA changes T211M Score: 81 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 211
frameshift no
known variant Reference ID: rs17860424
databasehomozygous (T/T)heterozygousallele carriers
1000G---
ExAC022

known disease mutation: rs7760 (pathogenic for Autoimmune lymphoproliferative syndrome type 2B) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM023571)

known disease mutation at this position, please check HGMD for details (HGMD ID CM023571)
known disease mutation at this position, please check HGMD for details (HGMD ID CM023571)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.2290.945
0.6540.941
(flanking)2.8340.936
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased43470wt: 0.34 / mu: 0.38wt: ACGGGAGAAAGTGCC
mu: ATGGGAGAAAGTGCC		 GGGA|gaaa
Donor increased43462wt: 0.23 / mu: 0.57wt: GCAAAAGCACGGGAG
mu: GCAAAAGCATGGGAG		 AAAA|gcac
Donor marginally increased43469wt: 0.9913 / mu: 0.9916 (marginal change - not scored)wt: CACGGGAGAAAGTGC
mu: CATGGGAGAAAGTGC		 CGGG|agaa
distance from splice site 61
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      211SDHQQSQFCKSTGESAQTSQH*
mutated  not conserved    211SDHQQSQFCKSMGESAQTSQH
Ptroglodytes  no alignment  ENSPTRG00000012801  n/a
Mmulatta  no alignment  ENSMMUG00000031296  n/a
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000026029  211LDEMSLKMAELCDSPREQDSESR
Ggallus  no alignment  ENSGALG00000008355  n/a
Trubripes  no alignment  ENSTRUG00000009617  n/a
Drerio  no homologue    
Dmelanogaster  no alignment  FBgn0019972  n/a
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
1216PROPEP /FTId=PRO_0000004628.lost
219219MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
230232STRANDmight get lost (downstream of altered splice site)
235240STRANDmight get lost (downstream of altered splice site)
246249HELIXmight get lost (downstream of altered splice site)
252254HELIXmight get lost (downstream of altered splice site)
255257STRANDmight get lost (downstream of altered splice site)
263276HELIXmight get lost (downstream of altered splice site)
280286STRANDmight get lost (downstream of altered splice site)
289301HELIXmight get lost (downstream of altered splice site)
294294CONFLICTE -> D (in Ref. 5; AAD24962).might get lost (downstream of altered splice site)
310316STRANDmight get lost (downstream of altered splice site)
317317ACT_SITEmight get lost (downstream of altered splice site)
322324STRANDmight get lost (downstream of altered splice site)
326328STRANDmight get lost (downstream of altered splice site)
330332STRANDmight get lost (downstream of altered splice site)
331331CONFLICTA -> P (in Ref. 2; AAC50602 and 5; AAD24962).might get lost (downstream of altered splice site)
333337HELIXmight get lost (downstream of altered splice site)
334334MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
338340HELIXmight get lost (downstream of altered splice site)
342344TURNmight get lost (downstream of altered splice site)
343344CONFLICTLK -> FG (in Ref. 8; AAL87631).might get lost (downstream of altered splice site)
346348HELIXmight get lost (downstream of altered splice site)
353359STRANDmight get lost (downstream of altered splice site)
360360ACT_SITEmight get lost (downstream of altered splice site)
362364STRANDmight get lost (downstream of altered splice site)
375384PROPEP /FTId=PRO_0000004630.might get lost (downstream of altered splice site)
377379STRANDmight get lost (downstream of altered splice site)
387387MUTAGENS->A: Impaired CDK1-mediated phosphorylation and enhanced apoptosis.might get lost (downstream of altered splice site)
387387MOD_RESPhosphoserine; by CDK1.might get lost (downstream of altered splice site)
395405STRANDmight get lost (downstream of altered splice site)
412414STRANDmight get lost (downstream of altered splice site)
415417TURNmight get lost (downstream of altered splice site)
420432HELIXmight get lost (downstream of altered splice site)
433435HELIXmight get lost (downstream of altered splice site)
439451HELIXmight get lost (downstream of altered splice site)
456459TURNmight get lost (downstream of altered splice site)
465468STRANDmight get lost (downstream of altered splice site)
471473STRANDmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 663 / 663
position (AA) of stopcodon in wt / mu AA sequence 221 / 221
position of stopcodon in wt / mu cDNA 898 / 898
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 236 / 236
chromosome 2
strand 1
last intron/exon boundary 1430
theoretical NMD boundary in CDS 1144
length of CDS 663
coding sequence (CDS) position 632
cDNA position
(for ins/del: last normal base / first normal base)		 867
gDNA position
(for ins/del: last normal base / first normal base)		 43466
chromosomal position
(for ins/del: last normal base / first normal base)		 202141631
original gDNA sequence snippet ATCACAATTTTGCAAAAGCACGGGAGAAAGTGCCCAAACTT
altered gDNA sequence snippet ATCACAATTTTGCAAAAGCATGGGAGAAAGTGCCCAAACTT
original cDNA sequence snippet ATCACAATTTTGCAAAAGCACGGGAGAAAGTGCCCAAACTT
altered cDNA sequence snippet ATCACAATTTTGCAAAAGCATGGGAGAAAGTGCCCAAACTT
wildtype AA sequence MDFSRNLYDI GEQLDSEDLA SLKFLSLDYI PQRKQEPIKD ALMLFQRLQE KRMLEESNLS
FLKELLFRIN RLDLLITYLN TRKEEMEREL QTPGRAQISA YRVMLYQISE EVSRSELRSF
KFLLQEEISK CKLDDDMNLL DIFIEMEKRV ILGEGKLDIL KRVCAQINKS LLKIINDYEE
FSKDFGQSLP NEKQTSGILS DHQQSQFCKS TGESAQTSQH *
mutated AA sequence MDFSRNLYDI GEQLDSEDLA SLKFLSLDYI PQRKQEPIKD ALMLFQRLQE KRMLEESNLS
FLKELLFRIN RLDLLITYLN TRKEEMEREL QTPGRAQISA YRVMLYQISE EVSRSELRSF
KFLLQEEISK CKLDDDMNLL DIFIEMEKRV ILGEGKLDIL KRVCAQINKS LLKIINDYEE
FSKDFGQSLP NEKQTSGILS DHQQSQFCKS MGESAQTSQH *
speed 0.50 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

disease causing

 Model: simple_aae, prob: 0.000359704251868706 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM023571)
  • known disease mutation: rs7760 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr2:202141631C>TN/A show variant in all transcripts   IGV
HGNC symbol CASP8
Ensembl transcript ID ENST00000392258
Genbank transcript ID NM_033358
UniProt peptide Q14790
alteration type single base exchange
alteration region CDS
DNA changes c.677C>T
cDNA.917C>T
g.43466C>T
AA changes T226M Score: 81 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 226
frameshift no
known variant Reference ID: rs17860424
databasehomozygous (T/T)heterozygousallele carriers
1000G---
ExAC022

known disease mutation: rs7760 (pathogenic for Autoimmune lymphoproliferative syndrome type 2B) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM023571)

known disease mutation at this position, please check HGMD for details (HGMD ID CM023571)
known disease mutation at this position, please check HGMD for details (HGMD ID CM023571)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.2290.945
0.6540.941
(flanking)2.8340.936
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased43470wt: 0.34 / mu: 0.38wt: ACGGGAGAAAGTGCC
mu: ATGGGAGAAAGTGCC		 GGGA|gaaa
Donor increased43462wt: 0.23 / mu: 0.57wt: GCAAAAGCACGGGAG
mu: GCAAAAGCATGGGAG		 AAAA|gcac
Donor marginally increased43469wt: 0.9913 / mu: 0.9916 (marginal change - not scored)wt: CACGGGAGAAAGTGC
mu: CATGGGAGAAAGTGC		 CGGG|agaa
distance from splice site 61
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      226SDHQQSQFCKSTGESAQTSQH*
mutated  not conserved    226SDHQQSQFCKSMGESAQTSQH
Ptroglodytes  no alignment  ENSPTRG00000012801  n/a
Mmulatta  no alignment  ENSMMUG00000031296  n/a
Fcatus  no homologue    
Mmusculus  no alignment  ENSMUSG00000026029  n/a
Ggallus  no alignment  ENSGALG00000008355  n/a
Trubripes  no alignment  ENSTRUG00000009617  n/a
Drerio  no homologue    
Dmelanogaster  no alignment  FBgn0019972  n/a
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
230232STRANDmight get lost (downstream of altered splice site)
235240STRANDmight get lost (downstream of altered splice site)
246249HELIXmight get lost (downstream of altered splice site)
252254HELIXmight get lost (downstream of altered splice site)
255257STRANDmight get lost (downstream of altered splice site)
263276HELIXmight get lost (downstream of altered splice site)
280286STRANDmight get lost (downstream of altered splice site)
289301HELIXmight get lost (downstream of altered splice site)
294294CONFLICTE -> D (in Ref. 5; AAD24962).might get lost (downstream of altered splice site)
310316STRANDmight get lost (downstream of altered splice site)
317317ACT_SITEmight get lost (downstream of altered splice site)
322324STRANDmight get lost (downstream of altered splice site)
326328STRANDmight get lost (downstream of altered splice site)
330332STRANDmight get lost (downstream of altered splice site)
331331CONFLICTA -> P (in Ref. 2; AAC50602 and 5; AAD24962).might get lost (downstream of altered splice site)
333337HELIXmight get lost (downstream of altered splice site)
334334MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
338340HELIXmight get lost (downstream of altered splice site)
342344TURNmight get lost (downstream of altered splice site)
343344CONFLICTLK -> FG (in Ref. 8; AAL87631).might get lost (downstream of altered splice site)
346348HELIXmight get lost (downstream of altered splice site)
353359STRANDmight get lost (downstream of altered splice site)
360360ACT_SITEmight get lost (downstream of altered splice site)
362364STRANDmight get lost (downstream of altered splice site)
375384PROPEP /FTId=PRO_0000004630.might get lost (downstream of altered splice site)
377379STRANDmight get lost (downstream of altered splice site)
387387MUTAGENS->A: Impaired CDK1-mediated phosphorylation and enhanced apoptosis.might get lost (downstream of altered splice site)
387387MOD_RESPhosphoserine; by CDK1.might get lost (downstream of altered splice site)
395405STRANDmight get lost (downstream of altered splice site)
412414STRANDmight get lost (downstream of altered splice site)
415417TURNmight get lost (downstream of altered splice site)
420432HELIXmight get lost (downstream of altered splice site)
433435HELIXmight get lost (downstream of altered splice site)
439451HELIXmight get lost (downstream of altered splice site)
456459TURNmight get lost (downstream of altered splice site)
465468STRANDmight get lost (downstream of altered splice site)
471473STRANDmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 708 / 708
position (AA) of stopcodon in wt / mu AA sequence 236 / 236
position of stopcodon in wt / mu cDNA 948 / 948
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 241 / 241
chromosome 2
strand 1
last intron/exon boundary 978
theoretical NMD boundary in CDS 687
length of CDS 708
coding sequence (CDS) position 677
cDNA position
(for ins/del: last normal base / first normal base)		 917
gDNA position
(for ins/del: last normal base / first normal base)		 43466
chromosomal position
(for ins/del: last normal base / first normal base)		 202141631
original gDNA sequence snippet ATCACAATTTTGCAAAAGCACGGGAGAAAGTGCCCAAACTT
altered gDNA sequence snippet ATCACAATTTTGCAAAAGCATGGGAGAAAGTGCCCAAACTT
original cDNA sequence snippet ATCACAATTTTGCAAAAGCACGGGAGAAAGTGCCCAAACTT
altered cDNA sequence snippet ATCACAATTTTGCAAAAGCATGGGAGAAAGTGCCCAAACTT
wildtype AA sequence MDFSRNLYDI GEQLDSEDLA SLKFLSLDYI PQRKQEPIKD ALMLFQRLQE KRMLEESNLS
FLKELLFRIN RLDLLITYLN TRKEEMEREL QTPGRAQISA YRVMLYQISE EVSRSELRSF
KFLLQEEISK CKLDDDMNLL DIFIEMEKRV ILGEGKLDIL KRVCAQINKS LLKIINDYEE
FSKERSSSLE GSPDEFSNDF GQSLPNEKQT SGILSDHQQS QFCKSTGESA QTSQH*
mutated AA sequence MDFSRNLYDI GEQLDSEDLA SLKFLSLDYI PQRKQEPIKD ALMLFQRLQE KRMLEESNLS
FLKELLFRIN RLDLLITYLN TRKEEMEREL QTPGRAQISA YRVMLYQISE EVSRSELRSF
KFLLQEEISK CKLDDDMNLL DIFIEMEKRV ILGEGKLDIL KRVCAQINKS LLKIINDYEE
FSKERSSSLE GSPDEFSNDF GQSLPNEKQT SGILSDHQQS QFCKSMGESA QTSQH*
speed 1.41 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

disease causing

 Model: simple_aae, prob: 0.000359704251868706 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM023571)
  • known disease mutation: rs7760 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr2:202141631C>TN/A show variant in all transcripts   IGV
HGNC symbol CASP8
Ensembl transcript ID ENST00000392259
Genbank transcript ID N/A
UniProt peptide Q14790
alteration type single base exchange
alteration region CDS
DNA changes c.677C>T
cDNA.912C>T
g.43466C>T
AA changes T226M Score: 81 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 226
frameshift no
known variant Reference ID: rs17860424
databasehomozygous (T/T)heterozygousallele carriers
1000G---
ExAC022

known disease mutation: rs7760 (pathogenic for Autoimmune lymphoproliferative syndrome type 2B) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM023571)

known disease mutation at this position, please check HGMD for details (HGMD ID CM023571)
known disease mutation at this position, please check HGMD for details (HGMD ID CM023571)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.2290.945
0.6540.941
(flanking)2.8340.936
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased43470wt: 0.34 / mu: 0.38wt: ACGGGAGAAAGTGCC
mu: ATGGGAGAAAGTGCC		 GGGA|gaaa
Donor increased43462wt: 0.23 / mu: 0.57wt: GCAAAAGCACGGGAG
mu: GCAAAAGCATGGGAG		 AAAA|gcac
Donor marginally increased43469wt: 0.9913 / mu: 0.9916 (marginal change - not scored)wt: CACGGGAGAAAGTGC
mu: CATGGGAGAAAGTGC		 CGGG|agaa
distance from splice site 61
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      226SDHQQSQFCKSTGESAQTSQH*
mutated  not conserved    226SDHQQSQFCKSMGESAQTSQH
Ptroglodytes  no alignment  ENSPTRG00000012801  n/a
Mmulatta  no alignment  ENSMMUG00000031296  n/a
Fcatus  no homologue    
Mmusculus  no alignment  ENSMUSG00000026029  n/a
Ggallus  no alignment  ENSGALG00000008355  n/a
Trubripes  no alignment  ENSTRUG00000009617  n/a
Drerio  no homologue    
Dmelanogaster  no alignment  FBgn0019972  n/a
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
230232STRANDmight get lost (downstream of altered splice site)
235240STRANDmight get lost (downstream of altered splice site)
246249HELIXmight get lost (downstream of altered splice site)
252254HELIXmight get lost (downstream of altered splice site)
255257STRANDmight get lost (downstream of altered splice site)
263276HELIXmight get lost (downstream of altered splice site)
280286STRANDmight get lost (downstream of altered splice site)
289301HELIXmight get lost (downstream of altered splice site)
294294CONFLICTE -> D (in Ref. 5; AAD24962).might get lost (downstream of altered splice site)
310316STRANDmight get lost (downstream of altered splice site)
317317ACT_SITEmight get lost (downstream of altered splice site)
322324STRANDmight get lost (downstream of altered splice site)
326328STRANDmight get lost (downstream of altered splice site)
330332STRANDmight get lost (downstream of altered splice site)
331331CONFLICTA -> P (in Ref. 2; AAC50602 and 5; AAD24962).might get lost (downstream of altered splice site)
333337HELIXmight get lost (downstream of altered splice site)
334334MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
338340HELIXmight get lost (downstream of altered splice site)
342344TURNmight get lost (downstream of altered splice site)
343344CONFLICTLK -> FG (in Ref. 8; AAL87631).might get lost (downstream of altered splice site)
346348HELIXmight get lost (downstream of altered splice site)
353359STRANDmight get lost (downstream of altered splice site)
360360ACT_SITEmight get lost (downstream of altered splice site)
362364STRANDmight get lost (downstream of altered splice site)
375384PROPEP /FTId=PRO_0000004630.might get lost (downstream of altered splice site)
377379STRANDmight get lost (downstream of altered splice site)
387387MUTAGENS->A: Impaired CDK1-mediated phosphorylation and enhanced apoptosis.might get lost (downstream of altered splice site)
387387MOD_RESPhosphoserine; by CDK1.might get lost (downstream of altered splice site)
395405STRANDmight get lost (downstream of altered splice site)
412414STRANDmight get lost (downstream of altered splice site)
415417TURNmight get lost (downstream of altered splice site)
420432HELIXmight get lost (downstream of altered splice site)
433435HELIXmight get lost (downstream of altered splice site)
439451HELIXmight get lost (downstream of altered splice site)
456459TURNmight get lost (downstream of altered splice site)
465468STRANDmight get lost (downstream of altered splice site)
471473STRANDmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 708 / 708
position (AA) of stopcodon in wt / mu AA sequence 236 / 236
position of stopcodon in wt / mu cDNA 943 / 943
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 236 / 236
chromosome 2
strand 1
last intron/exon boundary 1475
theoretical NMD boundary in CDS 1189
length of CDS 708
coding sequence (CDS) position 677
cDNA position
(for ins/del: last normal base / first normal base)		 912
gDNA position
(for ins/del: last normal base / first normal base)		 43466
chromosomal position
(for ins/del: last normal base / first normal base)		 202141631
original gDNA sequence snippet ATCACAATTTTGCAAAAGCACGGGAGAAAGTGCCCAAACTT
altered gDNA sequence snippet ATCACAATTTTGCAAAAGCATGGGAGAAAGTGCCCAAACTT
original cDNA sequence snippet ATCACAATTTTGCAAAAGCACGGGAGAAAGTGCCCAAACTT
altered cDNA sequence snippet ATCACAATTTTGCAAAAGCATGGGAGAAAGTGCCCAAACTT
wildtype AA sequence MDFSRNLYDI GEQLDSEDLA SLKFLSLDYI PQRKQEPIKD ALMLFQRLQE KRMLEESNLS
FLKELLFRIN RLDLLITYLN TRKEEMEREL QTPGRAQISA YRVMLYQISE EVSRSELRSF
KFLLQEEISK CKLDDDMNLL DIFIEMEKRV ILGEGKLDIL KRVCAQINKS LLKIINDYEE
FSKERSSSLE GSPDEFSNDF GQSLPNEKQT SGILSDHQQS QFCKSTGESA QTSQH*
mutated AA sequence MDFSRNLYDI GEQLDSEDLA SLKFLSLDYI PQRKQEPIKD ALMLFQRLQE KRMLEESNLS
FLKELLFRIN RLDLLITYLN TRKEEMEREL QTPGRAQISA YRVMLYQISE EVSRSELRSF
KFLLQEEISK CKLDDDMNLL DIFIEMEKRV ILGEGKLDIL KRVCAQINKS LLKIINDYEE
FSKERSSSLE GSPDEFSNDF GQSLPNEKQT SGILSDHQQS QFCKSMGESA QTSQH*
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

disease causing

 Model: simple_aae, prob: 0.892017299446454 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM023571)
  • known disease mutation: rs7760 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr2:202141631C>TN/A show variant in all transcripts   IGV
HGNC symbol CASP8
Ensembl transcript ID ENST00000358485
Genbank transcript ID NM_001080125
UniProt peptide Q14790
alteration type single base exchange
alteration region CDS
DNA changes c.919C>T
cDNA.1115C>T
g.43466C>T
AA changes R307W Score: 101 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 307
frameshift no
known variant Reference ID: rs17860424
databasehomozygous (T/T)heterozygousallele carriers
1000G---
ExAC022

known disease mutation: rs7760 (pathogenic for Autoimmune lymphoproliferative syndrome type 2B) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM023571)

known disease mutation at this position, please check HGMD for details (HGMD ID CM023571)
known disease mutation at this position, please check HGMD for details (HGMD ID CM023571)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.2290.945
0.6540.941
(flanking)2.8340.936
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased43470wt: 0.34 / mu: 0.38wt: ACGGGAGAAAGTGCC
mu: ATGGGAGAAAGTGCC		 GGGA|gaaa
Donor increased43462wt: 0.23 / mu: 0.57wt: GCAAAAGCACGGGAG
mu: GCAAAAGCATGGGAG		 AAAA|gcac
Donor marginally increased43469wt: 0.9913 / mu: 0.9916 (marginal change - not scored)wt: CACGGGAGAAAGTGC
mu: CATGGGAGAAAGTGC		 CGGG|agaa
distance from splice site 61
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      307LIINNHNFAKAREKVPKLHSIRDR
mutated  not conserved    307HNFAKAWEKVPKLHSIRD
Ptroglodytes  all identical  ENSPTRG00000012801  307HNFAKAREKVPKLHSIRD
Mmulatta  all identical  ENSMMUG00000031296  307YDFTKAREKVPKLHSIRD
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000026029  250LIINNHDFSKAREDITQLRKMKD
Ggallus  all identical  ENSGALG00000008355  251LILNNHNFAKAREAVPELRRMKD
Trubripes  not conserved  ENSTRUG00000009617  133VIINNENFL----------DMKQ
Drerio  no homologue    
Dmelanogaster  not conserved  FBgn0019972  108LIFNHEHF-----EVPTLKS---
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
310316STRANDmight get lost (downstream of altered splice site)
317317ACT_SITEmight get lost (downstream of altered splice site)
322324STRANDmight get lost (downstream of altered splice site)
326328STRANDmight get lost (downstream of altered splice site)
330332STRANDmight get lost (downstream of altered splice site)
331331CONFLICTA -> P (in Ref. 2; AAC50602 and 5; AAD24962).might get lost (downstream of altered splice site)
333337HELIXmight get lost (downstream of altered splice site)
334334MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
338340HELIXmight get lost (downstream of altered splice site)
342344TURNmight get lost (downstream of altered splice site)
343344CONFLICTLK -> FG (in Ref. 8; AAL87631).might get lost (downstream of altered splice site)
346348HELIXmight get lost (downstream of altered splice site)
353359STRANDmight get lost (downstream of altered splice site)
360360ACT_SITEmight get lost (downstream of altered splice site)
362364STRANDmight get lost (downstream of altered splice site)
375384PROPEP /FTId=PRO_0000004630.might get lost (downstream of altered splice site)
377379STRANDmight get lost (downstream of altered splice site)
387387MUTAGENS->A: Impaired CDK1-mediated phosphorylation and enhanced apoptosis.might get lost (downstream of altered splice site)
387387MOD_RESPhosphoserine; by CDK1.might get lost (downstream of altered splice site)
395405STRANDmight get lost (downstream of altered splice site)
412414STRANDmight get lost (downstream of altered splice site)
415417TURNmight get lost (downstream of altered splice site)
420432HELIXmight get lost (downstream of altered splice site)
433435HELIXmight get lost (downstream of altered splice site)
439451HELIXmight get lost (downstream of altered splice site)
456459TURNmight get lost (downstream of altered splice site)
465468STRANDmight get lost (downstream of altered splice site)
471473STRANDmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1617 / 1617
position (AA) of stopcodon in wt / mu AA sequence 539 / 539
position of stopcodon in wt / mu cDNA 1813 / 1813
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 197 / 197
chromosome 2
strand 1
last intron/exon boundary 1678
theoretical NMD boundary in CDS 1431
length of CDS 1617
coding sequence (CDS) position 919
cDNA position
(for ins/del: last normal base / first normal base)		 1115
gDNA position
(for ins/del: last normal base / first normal base)		 43466
chromosomal position
(for ins/del: last normal base / first normal base)		 202141631
original gDNA sequence snippet ATCACAATTTTGCAAAAGCACGGGAGAAAGTGCCCAAACTT
altered gDNA sequence snippet ATCACAATTTTGCAAAAGCATGGGAGAAAGTGCCCAAACTT
original cDNA sequence snippet ATCACAATTTTGCAAAAGCACGGGAGAAAGTGCCCAAACTT
altered cDNA sequence snippet ATCACAATTTTGCAAAAGCATGGGAGAAAGTGCCCAAACTT
wildtype AA sequence MEGGRRARVV IESKRNFFLG AFPTPFPAEH VELGRLGDSE TAMVPGKGGA DYILLPFKKM
DFSRNLYDIG EQLDSEDLAS LKFLSLDYIP QRKQEPIKDA LMLFQRLQEK RMLEESNLSF
LKELLFRINR LDLLITYLNT RKEEMERELQ TPGRAQISAY RVMLYQISEE VSRSELRSFK
FLLQEEISKC KLDDDMNLLD IFIEMEKRVI LGEGKLDILK RVCAQINKSL LKIINDYEEF
SKERSSSLEG SPDEFSNGEE LCGVMTISDS PREQDSESQT LDKVYQMKSK PRGYCLIINN
HNFAKAREKV PKLHSIRDRN GTHLDAGALT TTFEELHFEI KPHDDCTVEQ IYEILKIYQL
MDHSNMDCFI CCILSHGDKG IIYGTDGQEA PIYELTSQFT GLKCPSLAGK PKVFFIQACQ
GDNYQKGIPV ETDSEEQPYL EMDLSSPQTR YIPDEADFLL GMATVNNCVS YRNPAEGTWY
IQSLCQSLRE RCPRGDDILT ILTEVNYEVS NKDDKKNMGK QMPQPTFTLR KKLVFPSD*
mutated AA sequence MEGGRRARVV IESKRNFFLG AFPTPFPAEH VELGRLGDSE TAMVPGKGGA DYILLPFKKM
DFSRNLYDIG EQLDSEDLAS LKFLSLDYIP QRKQEPIKDA LMLFQRLQEK RMLEESNLSF
LKELLFRINR LDLLITYLNT RKEEMERELQ TPGRAQISAY RVMLYQISEE VSRSELRSFK
FLLQEEISKC KLDDDMNLLD IFIEMEKRVI LGEGKLDILK RVCAQINKSL LKIINDYEEF
SKERSSSLEG SPDEFSNGEE LCGVMTISDS PREQDSESQT LDKVYQMKSK PRGYCLIINN
HNFAKAWEKV PKLHSIRDRN GTHLDAGALT TTFEELHFEI KPHDDCTVEQ IYEILKIYQL
MDHSNMDCFI CCILSHGDKG IIYGTDGQEA PIYELTSQFT GLKCPSLAGK PKVFFIQACQ
GDNYQKGIPV ETDSEEQPYL EMDLSSPQTR YIPDEADFLL GMATVNNCVS YRNPAEGTWY
IQSLCQSLRE RCPRGDDILT ILTEVNYEVS NKDDKKNMGK QMPQPTFTLR KKLVFPSD*
speed 0.48 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

disease causing

 Model: simple_aae, prob: 0.892017299446454 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM023571)
  • known disease mutation: rs7760 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr2:202141631C>TN/A show variant in all transcripts   IGV
HGNC symbol CASP8
Ensembl transcript ID ENST00000323492
Genbank transcript ID NM_001080124
UniProt peptide Q14790
alteration type single base exchange
alteration region CDS
DNA changes c.697C>T
cDNA.837C>T
g.43466C>T
AA changes R233W Score: 101 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 233
frameshift no
known variant Reference ID: rs17860424
databasehomozygous (T/T)heterozygousallele carriers
1000G---
ExAC022

known disease mutation: rs7760 (pathogenic for Autoimmune lymphoproliferative syndrome type 2B) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM023571)

known disease mutation at this position, please check HGMD for details (HGMD ID CM023571)
known disease mutation at this position, please check HGMD for details (HGMD ID CM023571)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.2290.945
0.6540.941
(flanking)2.8340.936
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased43470wt: 0.34 / mu: 0.38wt: ACGGGAGAAAGTGCC
mu: ATGGGAGAAAGTGCC		 GGGA|gaaa
Donor increased43462wt: 0.23 / mu: 0.57wt: GCAAAAGCACGGGAG
mu: GCAAAAGCATGGGAG		 AAAA|gcac
Donor marginally increased43469wt: 0.9913 / mu: 0.9916 (marginal change - not scored)wt: CACGGGAGAAAGTGC
mu: CATGGGAGAAAGTGC		 CGGG|agaa
distance from splice site 61
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      233LIINNHNFAKAREKVPKLHSIRDR
mutated  not conserved    233LIINNHNFAKAWEKVPKLH
Ptroglodytes  all identical  ENSPTRG00000012801  307NHNFAKAREKVPKLHSIRD
Mmulatta  all identical  ENSMMUG00000031296  307NYDFTKAREKVPKLHSIRD
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000026029  250INNHDFSKAREDITQLRKMKD
Ggallus  all identical  ENSGALG00000008355  251LILNNHNFAKAREAVPELRRMKD
Trubripes  not conserved  ENSTRUG00000009617  133VIINNENFL----------DMKQ
Drerio  no homologue    
Dmelanogaster  not conserved  FBgn0019972  108LIFNHEHF-----EVPTLKS---
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
230232STRANDmight get lost (downstream of altered splice site)
235240STRANDmight get lost (downstream of altered splice site)
246249HELIXmight get lost (downstream of altered splice site)
252254HELIXmight get lost (downstream of altered splice site)
255257STRANDmight get lost (downstream of altered splice site)
263276HELIXmight get lost (downstream of altered splice site)
280286STRANDmight get lost (downstream of altered splice site)
289301HELIXmight get lost (downstream of altered splice site)
294294CONFLICTE -> D (in Ref. 5; AAD24962).might get lost (downstream of altered splice site)
310316STRANDmight get lost (downstream of altered splice site)
317317ACT_SITEmight get lost (downstream of altered splice site)
322324STRANDmight get lost (downstream of altered splice site)
326328STRANDmight get lost (downstream of altered splice site)
330332STRANDmight get lost (downstream of altered splice site)
331331CONFLICTA -> P (in Ref. 2; AAC50602 and 5; AAD24962).might get lost (downstream of altered splice site)
333337HELIXmight get lost (downstream of altered splice site)
334334MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
338340HELIXmight get lost (downstream of altered splice site)
342344TURNmight get lost (downstream of altered splice site)
343344CONFLICTLK -> FG (in Ref. 8; AAL87631).might get lost (downstream of altered splice site)
346348HELIXmight get lost (downstream of altered splice site)
353359STRANDmight get lost (downstream of altered splice site)
360360ACT_SITEmight get lost (downstream of altered splice site)
362364STRANDmight get lost (downstream of altered splice site)
375384PROPEP /FTId=PRO_0000004630.might get lost (downstream of altered splice site)
377379STRANDmight get lost (downstream of altered splice site)
387387MUTAGENS->A: Impaired CDK1-mediated phosphorylation and enhanced apoptosis.might get lost (downstream of altered splice site)
387387MOD_RESPhosphoserine; by CDK1.might get lost (downstream of altered splice site)
395405STRANDmight get lost (downstream of altered splice site)
412414STRANDmight get lost (downstream of altered splice site)
415417TURNmight get lost (downstream of altered splice site)
420432HELIXmight get lost (downstream of altered splice site)
433435HELIXmight get lost (downstream of altered splice site)
439451HELIXmight get lost (downstream of altered splice site)
456459TURNmight get lost (downstream of altered splice site)
465468STRANDmight get lost (downstream of altered splice site)
471473STRANDmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1395 / 1395
position (AA) of stopcodon in wt / mu AA sequence 465 / 465
position of stopcodon in wt / mu cDNA 1535 / 1535
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 141 / 141
chromosome 2
strand 1
last intron/exon boundary 1400
theoretical NMD boundary in CDS 1209
length of CDS 1395
coding sequence (CDS) position 697
cDNA position
(for ins/del: last normal base / first normal base)		 837
gDNA position
(for ins/del: last normal base / first normal base)		 43466
chromosomal position
(for ins/del: last normal base / first normal base)		 202141631
original gDNA sequence snippet ATCACAATTTTGCAAAAGCACGGGAGAAAGTGCCCAAACTT
altered gDNA sequence snippet ATCACAATTTTGCAAAAGCATGGGAGAAAGTGCCCAAACTT
original cDNA sequence snippet ATCACAATTTTGCAAAAGCACGGGAGAAAGTGCCCAAACTT
altered cDNA sequence snippet ATCACAATTTTGCAAAAGCATGGGAGAAAGTGCCCAAACTT
wildtype AA sequence MDFSRNLYDI GEQLDSEDLA SLKFLSLDYI PQRKQEPIKD ALMLFQRLQE KRMLEESNLS
FLKELLFRIN RLDLLITYLN TRKEEMEREL QTPGRAQISA YRVMLYQISE EVSRSELRSF
KFLLQEEISK CKLDDDMNLL DIFIEMEKRV ILGEGKLDIL KRVCAQINKS LLKIINDYEE
FSKGEELCGV MTISDSPREQ DSESQTLDKV YQMKSKPRGY CLIINNHNFA KAREKVPKLH
SIRDRNGTHL DAGALTTTFE ELHFEIKPHD DCTVEQIYEI LKIYQLMDHS NMDCFICCIL
SHGDKGIIYG TDGQEAPIYE LTSQFTGLKC PSLAGKPKVF FIQACQGDNY QKGIPVETDS
EEQPYLEMDL SSPQTRYIPD EADFLLGMAT VNNCVSYRNP AEGTWYIQSL CQSLRERCPR
GDDILTILTE VNYEVSNKDD KKNMGKQMPQ PTFTLRKKLV FPSD*
mutated AA sequence MDFSRNLYDI GEQLDSEDLA SLKFLSLDYI PQRKQEPIKD ALMLFQRLQE KRMLEESNLS
FLKELLFRIN RLDLLITYLN TRKEEMEREL QTPGRAQISA YRVMLYQISE EVSRSELRSF
KFLLQEEISK CKLDDDMNLL DIFIEMEKRV ILGEGKLDIL KRVCAQINKS LLKIINDYEE
FSKGEELCGV MTISDSPREQ DSESQTLDKV YQMKSKPRGY CLIINNHNFA KAWEKVPKLH
SIRDRNGTHL DAGALTTTFE ELHFEIKPHD DCTVEQIYEI LKIYQLMDHS NMDCFICCIL
SHGDKGIIYG TDGQEAPIYE LTSQFTGLKC PSLAGKPKVF FIQACQGDNY QKGIPVETDS
EEQPYLEMDL SSPQTRYIPD EADFLLGMAT VNNCVSYRNP AEGTWYIQSL CQSLRERCPR
GDDILTILTE VNYEVSNKDD KKNMGKQMPQ PTFTLRKKLV FPSD*
speed 0.96 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

disease causing

 Model: simple_aae, prob: 0.980523950027478 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM023571)
  • known disease mutation: rs7760 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr2:202141631C>TN/A show variant in all transcripts   IGV
HGNC symbol CASP8
Ensembl transcript ID ENST00000432109
Genbank transcript ID NM_033355
UniProt peptide Q14790
alteration type single base exchange
alteration region CDS
DNA changes c.742C>T
cDNA.931C>T
g.43466C>T
AA changes R248W Score: 101 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 248
frameshift no
known variant Reference ID: rs17860424
databasehomozygous (T/T)heterozygousallele carriers
1000G---
ExAC022

known disease mutation: rs7760 (pathogenic for Autoimmune lymphoproliferative syndrome type 2B) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM023571)

known disease mutation at this position, please check HGMD for details (HGMD ID CM023571)
known disease mutation at this position, please check HGMD for details (HGMD ID CM023571)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.2290.945
0.6540.941
(flanking)2.8340.936
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased43470wt: 0.34 / mu: 0.38wt: ACGGGAGAAAGTGCC
mu: ATGGGAGAAAGTGCC		 GGGA|gaaa
Donor increased43462wt: 0.23 / mu: 0.57wt: GCAAAAGCACGGGAG
mu: GCAAAAGCATGGGAG		 AAAA|gcac
Donor marginally increased43469wt: 0.9913 / mu: 0.9916 (marginal change - not scored)wt: CACGGGAGAAAGTGC
mu: CATGGGAGAAAGTGC		 CGGG|agaa
distance from splice site 61
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      248LIINNHNFAKAREKVPKLHSIRDR
mutated  not conserved    248NHNFAKAWEKVPKLHSIRD
Ptroglodytes  all identical  ENSPTRG00000012801  307NHNFAKAREKVPKLHSIRD
Mmulatta  all identical  ENSMMUG00000031296  307NYDFTKAREKVPKLHSIRD
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000026029  250LIINNHDFSKAREDITQLRKMKD
Ggallus  all identical  ENSGALG00000008355  251LILNNHNFAKAREAVPELRRMKD
Trubripes  not conserved  ENSTRUG00000009617  133VIINNENFL----------DMKQ
Drerio  no homologue    
Dmelanogaster  not conserved  FBgn0019972  108LIFNHEHF-----EVPTLKS---
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
246249HELIXlost
252254HELIXmight get lost (downstream of altered splice site)
255257STRANDmight get lost (downstream of altered splice site)
263276HELIXmight get lost (downstream of altered splice site)
280286STRANDmight get lost (downstream of altered splice site)
289301HELIXmight get lost (downstream of altered splice site)
294294CONFLICTE -> D (in Ref. 5; AAD24962).might get lost (downstream of altered splice site)
310316STRANDmight get lost (downstream of altered splice site)
317317ACT_SITEmight get lost (downstream of altered splice site)
322324STRANDmight get lost (downstream of altered splice site)
326328STRANDmight get lost (downstream of altered splice site)
330332STRANDmight get lost (downstream of altered splice site)
331331CONFLICTA -> P (in Ref. 2; AAC50602 and 5; AAD24962).might get lost (downstream of altered splice site)
333337HELIXmight get lost (downstream of altered splice site)
334334MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
338340HELIXmight get lost (downstream of altered splice site)
342344TURNmight get lost (downstream of altered splice site)
343344CONFLICTLK -> FG (in Ref. 8; AAL87631).might get lost (downstream of altered splice site)
346348HELIXmight get lost (downstream of altered splice site)
353359STRANDmight get lost (downstream of altered splice site)
360360ACT_SITEmight get lost (downstream of altered splice site)
362364STRANDmight get lost (downstream of altered splice site)
375384PROPEP /FTId=PRO_0000004630.might get lost (downstream of altered splice site)
377379STRANDmight get lost (downstream of altered splice site)
387387MUTAGENS->A: Impaired CDK1-mediated phosphorylation and enhanced apoptosis.might get lost (downstream of altered splice site)
387387MOD_RESPhosphoserine; by CDK1.might get lost (downstream of altered splice site)
395405STRANDmight get lost (downstream of altered splice site)
412414STRANDmight get lost (downstream of altered splice site)
415417TURNmight get lost (downstream of altered splice site)
420432HELIXmight get lost (downstream of altered splice site)
433435HELIXmight get lost (downstream of altered splice site)
439451HELIXmight get lost (downstream of altered splice site)
456459TURNmight get lost (downstream of altered splice site)
465468STRANDmight get lost (downstream of altered splice site)
471473STRANDmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1440 / 1440
position (AA) of stopcodon in wt / mu AA sequence 480 / 480
position of stopcodon in wt / mu cDNA 1629 / 1629
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 190 / 190
chromosome 2
strand 1
last intron/exon boundary 1494
theoretical NMD boundary in CDS 1254
length of CDS 1440
coding sequence (CDS) position 742
cDNA position
(for ins/del: last normal base / first normal base)		 931
gDNA position
(for ins/del: last normal base / first normal base)		 43466
chromosomal position
(for ins/del: last normal base / first normal base)		 202141631
original gDNA sequence snippet ATCACAATTTTGCAAAAGCACGGGAGAAAGTGCCCAAACTT
altered gDNA sequence snippet ATCACAATTTTGCAAAAGCATGGGAGAAAGTGCCCAAACTT
original cDNA sequence snippet ATCACAATTTTGCAAAAGCACGGGAGAAAGTGCCCAAACTT
altered cDNA sequence snippet ATCACAATTTTGCAAAAGCATGGGAGAAAGTGCCCAAACTT
wildtype AA sequence MDFSRNLYDI GEQLDSEDLA SLKFLSLDYI PQRKQEPIKD ALMLFQRLQE KRMLEESNLS
FLKELLFRIN RLDLLITYLN TRKEEMEREL QTPGRAQISA YRVMLYQISE EVSRSELRSF
KFLLQEEISK CKLDDDMNLL DIFIEMEKRV ILGEGKLDIL KRVCAQINKS LLKIINDYEE
FSKERSSSLE GSPDEFSNGE ELCGVMTISD SPREQDSESQ TLDKVYQMKS KPRGYCLIIN
NHNFAKAREK VPKLHSIRDR NGTHLDAGAL TTTFEELHFE IKPHDDCTVE QIYEILKIYQ
LMDHSNMDCF ICCILSHGDK GIIYGTDGQE APIYELTSQF TGLKCPSLAG KPKVFFIQAC
QGDNYQKGIP VETDSEEQPY LEMDLSSPQT RYIPDEADFL LGMATVNNCV SYRNPAEGTW
YIQSLCQSLR ERCPRGDDIL TILTEVNYEV SNKDDKKNMG KQMPQPTFTL RKKLVFPSD*
mutated AA sequence MDFSRNLYDI GEQLDSEDLA SLKFLSLDYI PQRKQEPIKD ALMLFQRLQE KRMLEESNLS
FLKELLFRIN RLDLLITYLN TRKEEMEREL QTPGRAQISA YRVMLYQISE EVSRSELRSF
KFLLQEEISK CKLDDDMNLL DIFIEMEKRV ILGEGKLDIL KRVCAQINKS LLKIINDYEE
FSKERSSSLE GSPDEFSNGE ELCGVMTISD SPREQDSESQ TLDKVYQMKS KPRGYCLIIN
NHNFAKAWEK VPKLHSIRDR NGTHLDAGAL TTTFEELHFE IKPHDDCTVE QIYEILKIYQ
LMDHSNMDCF ICCILSHGDK GIIYGTDGQE APIYELTSQF TGLKCPSLAG KPKVFFIQAC
QGDNYQKGIP VETDSEEQPY LEMDLSSPQT RYIPDEADFL LGMATVNNCV SYRNPAEGTW
YIQSLCQSLR ERCPRGDDIL TILTEVNYEV SNKDDKKNMG KQMPQPTFTL RKKLVFPSD*
speed 0.43 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

disease causing

 Model: simple_aae, prob: 0.980523950027478 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM023571)
  • known disease mutation: rs7760 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr2:202141631C>TN/A show variant in all transcripts   IGV
HGNC symbol CASP8
Ensembl transcript ID ENST00000264275
Genbank transcript ID NM_001228
UniProt peptide Q14790
alteration type single base exchange
alteration region CDS
DNA changes c.793C>T
cDNA.1073C>T
g.43466C>T
AA changes R265W Score: 101 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 265
frameshift no
known variant Reference ID: rs17860424
databasehomozygous (T/T)heterozygousallele carriers
1000G---
ExAC022

known disease mutation: rs7760 (pathogenic for Autoimmune lymphoproliferative syndrome type 2B) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM023571)

known disease mutation at this position, please check HGMD for details (HGMD ID CM023571)
known disease mutation at this position, please check HGMD for details (HGMD ID CM023571)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.2290.945
0.6540.941
(flanking)2.8340.936
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased43470wt: 0.34 / mu: 0.38wt: ACGGGAGAAAGTGCC
mu: ATGGGAGAAAGTGCC		 GGGA|gaaa
Donor increased43462wt: 0.23 / mu: 0.57wt: GCAAAAGCACGGGAG
mu: GCAAAAGCATGGGAG		 AAAA|gcac
Donor marginally increased43469wt: 0.9913 / mu: 0.9916 (marginal change - not scored)wt: CACGGGAGAAAGTGC
mu: CATGGGAGAAAGTGC		 CGGG|agaa
distance from splice site 61
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      265LIINNHNFAKAREKVPKLHSIRDR
mutated  not conserved    265LIINNHNFAKAWEKVPKLHSIRD
Ptroglodytes  all identical  ENSPTRG00000012801  307LIINNHNFAKAREKVPKLHSIRD
Mmulatta  all identical  ENSMMUG00000031296  307LIINNYDFTKAREKVPKLHSIRD
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000026029  250LIINNHDFSKAREDITQLRKMKD
Ggallus  all identical  ENSGALG00000008355  238LILNNHNFAKAREAVPELRRMKD
Trubripes  not conserved  ENSTRUG00000009617  133VIINNENFL----------DMKQ
Drerio  no homologue    
Dmelanogaster  not conserved  FBgn0019972  108LIFNHEHF-----EVPTLKS---
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
263276HELIXlost
280286STRANDmight get lost (downstream of altered splice site)
289301HELIXmight get lost (downstream of altered splice site)
294294CONFLICTE -> D (in Ref. 5; AAD24962).might get lost (downstream of altered splice site)
310316STRANDmight get lost (downstream of altered splice site)
317317ACT_SITEmight get lost (downstream of altered splice site)
322324STRANDmight get lost (downstream of altered splice site)
326328STRANDmight get lost (downstream of altered splice site)
330332STRANDmight get lost (downstream of altered splice site)
331331CONFLICTA -> P (in Ref. 2; AAC50602 and 5; AAD24962).might get lost (downstream of altered splice site)
333337HELIXmight get lost (downstream of altered splice site)
334334MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
338340HELIXmight get lost (downstream of altered splice site)
342344TURNmight get lost (downstream of altered splice site)
343344CONFLICTLK -> FG (in Ref. 8; AAL87631).might get lost (downstream of altered splice site)
346348HELIXmight get lost (downstream of altered splice site)
353359STRANDmight get lost (downstream of altered splice site)
360360ACT_SITEmight get lost (downstream of altered splice site)
362364STRANDmight get lost (downstream of altered splice site)
375384PROPEP /FTId=PRO_0000004630.might get lost (downstream of altered splice site)
377379STRANDmight get lost (downstream of altered splice site)
387387MUTAGENS->A: Impaired CDK1-mediated phosphorylation and enhanced apoptosis.might get lost (downstream of altered splice site)
387387MOD_RESPhosphoserine; by CDK1.might get lost (downstream of altered splice site)
395405STRANDmight get lost (downstream of altered splice site)
412414STRANDmight get lost (downstream of altered splice site)
415417TURNmight get lost (downstream of altered splice site)
420432HELIXmight get lost (downstream of altered splice site)
433435HELIXmight get lost (downstream of altered splice site)
439451HELIXmight get lost (downstream of altered splice site)
456459TURNmight get lost (downstream of altered splice site)
465468STRANDmight get lost (downstream of altered splice site)
471473STRANDmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1491 / 1491
position (AA) of stopcodon in wt / mu AA sequence 497 / 497
position of stopcodon in wt / mu cDNA 1771 / 1771
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 281 / 281
chromosome 2
strand 1
last intron/exon boundary 1636
theoretical NMD boundary in CDS 1305
length of CDS 1491
coding sequence (CDS) position 793
cDNA position
(for ins/del: last normal base / first normal base)		 1073
gDNA position
(for ins/del: last normal base / first normal base)		 43466
chromosomal position
(for ins/del: last normal base / first normal base)		 202141631
original gDNA sequence snippet ATCACAATTTTGCAAAAGCACGGGAGAAAGTGCCCAAACTT
altered gDNA sequence snippet ATCACAATTTTGCAAAAGCATGGGAGAAAGTGCCCAAACTT
original cDNA sequence snippet ATCACAATTTTGCAAAAGCACGGGAGAAAGTGCCCAAACTT
altered cDNA sequence snippet ATCACAATTTTGCAAAAGCATGGGAGAAAGTGCCCAAACTT
wildtype AA sequence MDFSRNLYDI GEQLDSEDLA SLKFLSLDYI PQRKQEPIKD ALMLFQRLQE KRMLEESNLS
FLKELLFRIN RLDLLITYLN TRKEEMEREL QTPGRAQISA YRFHFCRMSW AEANSQCQTQ
SVPFWRRVDH LLIRVMLYQI SEEVSRSELR SFKFLLQEEI SKCKLDDDMN LLDIFIEMEK
RVILGEGKLD ILKRVCAQIN KSLLKIINDY EEFSKGEELC GVMTISDSPR EQDSESQTLD
KVYQMKSKPR GYCLIINNHN FAKAREKVPK LHSIRDRNGT HLDAGALTTT FEELHFEIKP
HDDCTVEQIY EILKIYQLMD HSNMDCFICC ILSHGDKGII YGTDGQEAPI YELTSQFTGL
KCPSLAGKPK VFFIQACQGD NYQKGIPVET DSEEQPYLEM DLSSPQTRYI PDEADFLLGM
ATVNNCVSYR NPAEGTWYIQ SLCQSLRERC PRGDDILTIL TEVNYEVSNK DDKKNMGKQM
PQPTFTLRKK LVFPSD*
mutated AA sequence MDFSRNLYDI GEQLDSEDLA SLKFLSLDYI PQRKQEPIKD ALMLFQRLQE KRMLEESNLS
FLKELLFRIN RLDLLITYLN TRKEEMEREL QTPGRAQISA YRFHFCRMSW AEANSQCQTQ
SVPFWRRVDH LLIRVMLYQI SEEVSRSELR SFKFLLQEEI SKCKLDDDMN LLDIFIEMEK
RVILGEGKLD ILKRVCAQIN KSLLKIINDY EEFSKGEELC GVMTISDSPR EQDSESQTLD
KVYQMKSKPR GYCLIINNHN FAKAWEKVPK LHSIRDRNGT HLDAGALTTT FEELHFEIKP
HDDCTVEQIY EILKIYQLMD HSNMDCFICC ILSHGDKGII YGTDGQEAPI YELTSQFTGL
KCPSLAGKPK VFFIQACQGD NYQKGIPVET DSEEQPYLEM DLSSPQTRYI PDEADFLLGM
ATVNNCVSYR NPAEGTWYIQ SLCQSLRERC PRGDDILTIL TEVNYEVSNK DDKKNMGKQM
PQPTFTLRKK LVFPSD*
speed 0.97 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

disease causing

 Model: without_aae, prob: 0.999999999658292 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • known disease mutation at this position (HGMD CM023571)
  • known disease mutation: rs7760 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr2:202141631C>TN/A show variant in all transcripts   IGV
HGNC symbol CASP8
Ensembl transcript ID ENST00000264274
Genbank transcript ID N/A
UniProt peptide Q14790
alteration type single base exchange
alteration region intron
DNA changes g.43466C>T
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs17860424
databasehomozygous (T/T)heterozygousallele carriers
1000G---
ExAC022

known disease mutation: rs7760 (pathogenic for Autoimmune lymphoproliferative syndrome type 2B) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM023571)

known disease mutation at this position, please check HGMD for details (HGMD ID CM023571)
known disease mutation at this position, please check HGMD for details (HGMD ID CM023571)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.2290.945
0.6540.941
(flanking)2.8340.936
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased43470wt: 0.34 / mu: 0.38wt: ACGGGAGAAAGTGCC
mu: ATGGGAGAAAGTGCC		 GGGA|gaaa
Donor increased43462wt: 0.23 / mu: 0.57wt: GCAAAAGCACGGGAG
mu: GCAAAAGCATGGGAG		 AAAA|gcac
Donor marginally increased43469wt: 0.9913 / mu: 0.9916 (marginal change - not scored)wt: CACGGGAGAAAGTGC
mu: CATGGGAGAAAGTGC		 CGGG|agaa
distance from splice site 4132
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
1216PROPEP /FTId=PRO_0000004628.might get lost (downstream of altered splice site)
188188MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
219219MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
230232STRANDmight get lost (downstream of altered splice site)
235240STRANDmight get lost (downstream of altered splice site)
246249HELIXmight get lost (downstream of altered splice site)
252254HELIXmight get lost (downstream of altered splice site)
255257STRANDmight get lost (downstream of altered splice site)
263276HELIXmight get lost (downstream of altered splice site)
280286STRANDmight get lost (downstream of altered splice site)
289301HELIXmight get lost (downstream of altered splice site)
294294CONFLICTE -> D (in Ref. 5; AAD24962).might get lost (downstream of altered splice site)
310316STRANDmight get lost (downstream of altered splice site)
317317ACT_SITEmight get lost (downstream of altered splice site)
322324STRANDmight get lost (downstream of altered splice site)
326328STRANDmight get lost (downstream of altered splice site)
330332STRANDmight get lost (downstream of altered splice site)
331331CONFLICTA -> P (in Ref. 2; AAC50602 and 5; AAD24962).might get lost (downstream of altered splice site)
333337HELIXmight get lost (downstream of altered splice site)
334334MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
338340HELIXmight get lost (downstream of altered splice site)
342344TURNmight get lost (downstream of altered splice site)
343344CONFLICTLK -> FG (in Ref. 8; AAL87631).might get lost (downstream of altered splice site)
346348HELIXmight get lost (downstream of altered splice site)
353359STRANDmight get lost (downstream of altered splice site)
360360ACT_SITEmight get lost (downstream of altered splice site)
362364STRANDmight get lost (downstream of altered splice site)
375384PROPEP /FTId=PRO_0000004630.might get lost (downstream of altered splice site)
377379STRANDmight get lost (downstream of altered splice site)
387387MUTAGENS->A: Impaired CDK1-mediated phosphorylation and enhanced apoptosis.might get lost (downstream of altered splice site)
387387MOD_RESPhosphoserine; by CDK1.might get lost (downstream of altered splice site)
395405STRANDmight get lost (downstream of altered splice site)
412414STRANDmight get lost (downstream of altered splice site)
415417TURNmight get lost (downstream of altered splice site)
420432HELIXmight get lost (downstream of altered splice site)
433435HELIXmight get lost (downstream of altered splice site)
439451HELIXmight get lost (downstream of altered splice site)
456459TURNmight get lost (downstream of altered splice site)
465468STRANDmight get lost (downstream of altered splice site)
471473STRANDmight get lost (downstream of altered splice site)
length of protein N/A
AA sequence altered N/A
position of stopcodon in wt / mu CDS N/A
position (AA) of stopcodon in wt / mu AA sequence N/A
position of stopcodon in wt / mu cDNA N/A
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 236 / 236
chromosome 2
strand 1
last intron/exon boundary 1288
theoretical NMD boundary in CDS 1002
length of CDS 1188
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 N/A
gDNA position
(for ins/del: last normal base / first normal base)		 43466
chromosomal position
(for ins/del: last normal base / first normal base)		 202141631
original gDNA sequence snippet ATCACAATTTTGCAAAAGCACGGGAGAAAGTGCCCAAACTT
altered gDNA sequence snippet ATCACAATTTTGCAAAAGCATGGGAGAAAGTGCCCAAACTT
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MDFSRNLYDI GEQLDSEDLA SLKFLSLDYI PQRKQEPIKD ALMLFQRLQE KRMLEESNLS
FLKELLFRIN RLDLLITYLN TRKEEMEREL QTPGRAQISA YRVMLYQISE EVSRSELRSF
KFLLQEEISK CKLDDDMNLL DIFIEMEKRV ILGEGKLDIL KRVCAQINKS LLKIINDYEE
FSKGALTTTF EELHFEIKPH DDCTVEQIYE ILKIYQLMDH SNMDCFICCI LSHGDKGIIY
GTDGQEAPIY ELTSQFTGLK CPSLAGKPKV FFIQACQGDN YQKGIPVETD SEEQPYLEMD
LSSPQTRYIP DEADFLLGMA TVNNCVSYRN PAEGTWYIQS LCQSLRERCP RGDDILTILT
EVNYEVSNKD DKKNMGKQMP QPTFTLRKKL VFPSD*
mutated AA sequence N/A
speed 0.37 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

Problems