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 11 transcript(s)...
Querying Taster for transcript #1: ENST00000376113
Querying Taster for transcript #2: ENST00000357970
Querying Taster for transcript #3: ENST00000393040
Querying Taster for transcript #4: ENST00000348750
Querying Taster for transcript #5: ENST00000259238
Querying Taster for transcript #6: ENST00000346226
Querying Taster for transcript #7: ENST00000393041
Querying Taster for transcript #8: ENST00000351659
Querying Taster for transcript #9: ENST00000352848
Querying Taster for transcript #10: ENST00000316724
Querying Taster for transcript #11: ENST00000409400
MT speed 0 s - this script 7.442112 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
BIN1disease_causing_automatic0.999999999971452simple_aaeaffected0D151Nsingle base exchangers121909274show file
BIN1disease_causing_automatic0.999999999971452simple_aaeaffected0D151Nsingle base exchangers121909274show file
BIN1disease_causing_automatic0.999999999971452simple_aaeaffected0D151Nsingle base exchangers121909274show file
BIN1disease_causing_automatic0.999999999971452simple_aaeaffected0D151Nsingle base exchangers121909274show file
BIN1disease_causing_automatic0.999999999971452simple_aaeaffected0D151Nsingle base exchangers121909274show file
BIN1disease_causing_automatic0.999999999971452simple_aaeaffected0D151Nsingle base exchangers121909274show file
BIN1disease_causing_automatic0.999999999971452simple_aaeaffected0D151Nsingle base exchangers121909274show file
BIN1disease_causing_automatic0.999999999971452simple_aaeaffected0D151Nsingle base exchangers121909274show file
BIN1disease_causing_automatic0.999999999971452simple_aaeaffected0D151Nsingle base exchangers121909274show file
BIN1disease_causing_automatic0.999999999971452simple_aaeaffected0D151Nsingle base exchangers121909274show file
BIN1disease_causing_automatic0.999999999971452simple_aaeaffected0D151Nsingle base exchangers121909274show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999999971452 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM074066)
  • known disease mutation: rs8298 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr2:127826568C>TN/A show variant in all transcripts   IGV
HGNC symbol BIN1
Ensembl transcript ID ENST00000376113
Genbank transcript ID N/A
UniProt peptide O00499
alteration type single base exchange
alteration region CDS
DNA changes c.451G>A
cDNA.509G>A
g.38364G>A
AA changes D151N Score: 23 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 151
frameshift no
known variant Reference ID: rs121909274
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs8298 (pathogenic for Myopathy, centronuclear, 2) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM074066)

known disease mutation at this position, please check HGMD for details (HGMD ID CM074066)
known disease mutation at this position, please check HGMD for details (HGMD ID CM074066)
regulatory features DNase1, Open Chromatin, DNase1 Hypersensitive Site
Gene Associated, Regulatory Feature, Gene associated regulatory feature
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)4.1191
4.9891
(flanking)-0.2760.976
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased38362wt: 0.8355 / mu: 0.9079 (marginal change - not scored)wt: GGACTACGACAGTGC
mu: GGACTACAACAGTGC		 ACTA|cgac
Donor gained383640.85mu: ACTACAACAGTGCCC TACA|acag
distance from splice site 40
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      151IAKRGRKLVDYDSARHHYESLQTA
mutated  all conserved    151IAKRGRKLVDYNSARHHYESLQT
Ptroglodytes  all identical  ENSPTRG00000012423  151IAKRGRKLVDYDSARHHYESLQT
Mmulatta  no homologue    
Fcatus  all identical  ENSFCAG00000000531  123DYDSARHHYESLQT
Mmusculus  all identical  ENSMUSG00000024381  151IAKRGRKLVDYDSARHHYESLQT
Ggallus  all identical  ENSGALG00000011541  151IAKRGRKLVDYDSARHHFEALQT
Trubripes  all identical  ENSTRUG00000013580  152IAKRDRKLVDYDSARHNYAITHK
Drerio  all identical  ENSDARG00000042114  152IAKRDRKLVDFDSARHNFAAVNK
Dmelanogaster  all identical  FBgn0027356  146VEKRNRKLIDYDGQRHSFQNLQANA
Celegans  all identical  F58G6.1  142IEKRGRKLVDYDSAKNSFNSVKA
Xtropicalis  all identical  ENSXETG00000000473  122DYDSARHHFESLQN
protein features
start (aa)end (aa)featuredetails 
29276DOMAINBAR.lost
133161HELIXlost
193267COILEDPotential.might get lost (downstream of altered splice site)
205268HELIXmight get lost (downstream of altered splice site)
296296MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
298298MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
303303MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
307307MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
323323MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
331331MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
378421REGIONClathrin-binding.might get lost (downstream of altered splice site)
474474CONFLICTA -> P (in Ref. 2; AAB63263).might get lost (downstream of altered splice site)
481481CONFLICTA -> S (in Ref. 10; AAC24126/AAC23750/ AAC23751).might get lost (downstream of altered splice site)
510510CONFLICTS -> C (in Ref. 7; AAC23440/AAC23441).might get lost (downstream of altered splice site)
520592DOMAINSH3.might get lost (downstream of altered splice site)
523527STRANDmight get lost (downstream of altered splice site)
528528CONFLICTQ -> H (in Ref. 7; AAC23440/AAC23441).might get lost (downstream of altered splice site)
535537STRANDmight get lost (downstream of altered splice site)
546549STRANDmight get lost (downstream of altered splice site)
555557HELIXmight get lost (downstream of altered splice site)
562567STRANDmight get lost (downstream of altered splice site)
568572HELIXmight get lost (downstream of altered splice site)
573579HELIXmight get lost (downstream of altered splice site)
576576CONFLICTE -> K (in Ref. 7; AAC23440/AAC23441).might get lost (downstream of altered splice site)
582585STRANDmight get lost (downstream of altered splice site)
586588HELIXmight get lost (downstream of altered splice site)
589591STRANDmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1275 / 1275
position (AA) of stopcodon in wt / mu AA sequence 425 / 425
position of stopcodon in wt / mu cDNA 1333 / 1333
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 59 / 59
chromosome 2
strand -1
last intron/exon boundary 1226
theoretical NMD boundary in CDS 1117
length of CDS 1275
coding sequence (CDS) position 451
cDNA position
(for ins/del: last normal base / first normal base)		 509
gDNA position
(for ins/del: last normal base / first normal base)		 38364
chromosomal position
(for ins/del: last normal base / first normal base)		 127826568
original gDNA sequence snippet GGCGCAAGCTGGTGGACTACGACAGTGCCCGGCACCACTAC
altered gDNA sequence snippet GGCGCAAGCTGGTGGACTACAACAGTGCCCGGCACCACTAC
original cDNA sequence snippet GGCGCAAGCTGGTGGACTACGACAGTGCCCGGCACCACTAC
altered cDNA sequence snippet GGCGCAAGCTGGTGGACTACAACAGTGCCCGGCACCACTAC
wildtype AA sequence MAEMGSKGVT AGKIASNVQK KLTRAQEKVL QKLGKADETK DEQFEQCVQN FNKQLTEGTR
LQKDLRTYLA SVKAMHEASK KLNECLQEVY EPDWPGRDEA NKIAENNDLL WMDYHQKLVD
QALLTMDTYL GQFPDIKSRI AKRGRKLVDY DSARHHYESL QTAKKKDEAK IAKAEEELIK
AQKVFEEMNV DLQEELPSLW NSRVGFYVNT FQSIAGLEEN FHKEMSKLNQ NLNDVLVGLE
KQHGSNTFTV KAQPRKKSKL FSRLRRKKNS DNAPAKGNKS PSPPDGSPAA TPEIRVNHEP
EPAGGATPGA TLPKSPSQSS LPAVVVETFP ATVNGTVEGG SGAGRLDLPP GFMFKVQAQH
DYTATDTDEL QLKAGDVVLV IPFQNPEEQD EGWLMGVKES DWNQHKELEK CRGVFPENFT
ERVP*
mutated AA sequence MAEMGSKGVT AGKIASNVQK KLTRAQEKVL QKLGKADETK DEQFEQCVQN FNKQLTEGTR
LQKDLRTYLA SVKAMHEASK KLNECLQEVY EPDWPGRDEA NKIAENNDLL WMDYHQKLVD
QALLTMDTYL GQFPDIKSRI AKRGRKLVDY NSARHHYESL QTAKKKDEAK IAKAEEELIK
AQKVFEEMNV DLQEELPSLW NSRVGFYVNT FQSIAGLEEN FHKEMSKLNQ NLNDVLVGLE
KQHGSNTFTV KAQPRKKSKL FSRLRRKKNS DNAPAKGNKS PSPPDGSPAA TPEIRVNHEP
EPAGGATPGA TLPKSPSQSS LPAVVVETFP ATVNGTVEGG SGAGRLDLPP GFMFKVQAQH
DYTATDTDEL QLKAGDVVLV IPFQNPEEQD EGWLMGVKES DWNQHKELEK CRGVFPENFT
ERVP*
speed 0.79 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: 0.999999999971452 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM074066)
  • known disease mutation: rs8298 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr2:127826568C>TN/A show variant in all transcripts   IGV
HGNC symbol BIN1
Ensembl transcript ID ENST00000357970
Genbank transcript ID NM_139344
UniProt peptide O00499
alteration type single base exchange
alteration region CDS
DNA changes c.451G>A
cDNA.796G>A
g.38364G>A
AA changes D151N Score: 23 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 151
frameshift no
known variant Reference ID: rs121909274
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs8298 (pathogenic for Myopathy, centronuclear, 2) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM074066)

known disease mutation at this position, please check HGMD for details (HGMD ID CM074066)
known disease mutation at this position, please check HGMD for details (HGMD ID CM074066)
regulatory features DNase1, Open Chromatin, DNase1 Hypersensitive Site
Gene Associated, Regulatory Feature, Gene associated regulatory feature
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)4.1191
4.9891
(flanking)-0.2760.976
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased38362wt: 0.8355 / mu: 0.9079 (marginal change - not scored)wt: GGACTACGACAGTGC
mu: GGACTACAACAGTGC		 ACTA|cgac
Donor gained383640.85mu: ACTACAACAGTGCCC TACA|acag
distance from splice site 40
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      151IAKRGRKLVDYDSARHHYESLQTA
mutated  all conserved    151IAKRGRKLVDYNSARHHYESLQT
Ptroglodytes  all identical  ENSPTRG00000012423  151IAKRGRKLVDYDSARHHYESLQT
Mmulatta  no homologue    
Fcatus  all identical  ENSFCAG00000000531  123DYDSARHHYESLQT
Mmusculus  all identical  ENSMUSG00000024381  151IAKRGRKLVDYDSARHHYESLQT
Ggallus  all identical  ENSGALG00000011541  151IAKRGRKLVDYDSARHHFEALQT
Trubripes  all identical  ENSTRUG00000013580  152IAKRDRKLVDYDSARHNYAITHK
Drerio  all identical  ENSDARG00000042114  152IAKRDRKLVDFDSARHNFAAVNK
Dmelanogaster  all identical  FBgn0027356  146VEKRNRKLIDYDGQRHSFQNLQA
Celegans  all identical  F58G6.1  142IEKRGRKLVDYDSAKNSFNSVKA
Xtropicalis  all identical  ENSXETG00000000473  122DYDSARHHFESLQN
protein features
start (aa)end (aa)featuredetails 
29276DOMAINBAR.lost
133161HELIXlost
193267COILEDPotential.might get lost (downstream of altered splice site)
205268HELIXmight get lost (downstream of altered splice site)
296296MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
298298MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
303303MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
307307MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
323323MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
331331MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
378421REGIONClathrin-binding.might get lost (downstream of altered splice site)
474474CONFLICTA -> P (in Ref. 2; AAB63263).might get lost (downstream of altered splice site)
481481CONFLICTA -> S (in Ref. 10; AAC24126/AAC23750/ AAC23751).might get lost (downstream of altered splice site)
510510CONFLICTS -> C (in Ref. 7; AAC23440/AAC23441).might get lost (downstream of altered splice site)
520592DOMAINSH3.might get lost (downstream of altered splice site)
523527STRANDmight get lost (downstream of altered splice site)
528528CONFLICTQ -> H (in Ref. 7; AAC23440/AAC23441).might get lost (downstream of altered splice site)
535537STRANDmight get lost (downstream of altered splice site)
546549STRANDmight get lost (downstream of altered splice site)
555557HELIXmight get lost (downstream of altered splice site)
562567STRANDmight get lost (downstream of altered splice site)
568572HELIXmight get lost (downstream of altered splice site)
573579HELIXmight get lost (downstream of altered splice site)
576576CONFLICTE -> K (in Ref. 7; AAC23440/AAC23441).might get lost (downstream of altered splice site)
582585STRANDmight get lost (downstream of altered splice site)
586588HELIXmight get lost (downstream of altered splice site)
589591STRANDmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1653 / 1653
position (AA) of stopcodon in wt / mu AA sequence 551 / 551
position of stopcodon in wt / mu cDNA 1998 / 1998
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 346 / 346
chromosome 2
strand -1
last intron/exon boundary 1891
theoretical NMD boundary in CDS 1495
length of CDS 1653
coding sequence (CDS) position 451
cDNA position
(for ins/del: last normal base / first normal base)		 796
gDNA position
(for ins/del: last normal base / first normal base)		 38364
chromosomal position
(for ins/del: last normal base / first normal base)		 127826568
original gDNA sequence snippet GGCGCAAGCTGGTGGACTACGACAGTGCCCGGCACCACTAC
altered gDNA sequence snippet GGCGCAAGCTGGTGGACTACAACAGTGCCCGGCACCACTAC
original cDNA sequence snippet GGCGCAAGCTGGTGGACTACGACAGTGCCCGGCACCACTAC
altered cDNA sequence snippet GGCGCAAGCTGGTGGACTACAACAGTGCCCGGCACCACTAC
wildtype AA sequence MAEMGSKGVT AGKIASNVQK KLTRAQEKVL QKLGKADETK DEQFEQCVQN FNKQLTEGTR
LQKDLRTYLA SVKAMHEASK KLNECLQEVY EPDWPGRDEA NKIAENNDLL WMDYHQKLVD
QALLTMDTYL GQFPDIKSRI AKRGRKLVDY DSARHHYESL QTAKKKDEAK IAKPVSLLEK
AAPQWCQGKL QAHLVAQTNL LRNQAEEELI KAQKVFEEMN VDLQEELPSL WNSRVGFYVN
TFQSIAGLEE NFHKEMSKLN QNLNDVLVGL EKQHGSNTFT VKAQPSDNAP AKGNKSPSPP
DGSPAATPEI RVNHEPEPAG GATPGATLPK SPSQFEAPGP FSEQASLLDL DFDPLPPVTS
PVKAPTPSGQ SIPWDLWEPT ESPAGSLPSG EPSAAEGTFA VSWPSQTAEP GPAQPAEASE
VAGGTQPAAG AQEPGETAAS EAASSSLPAV VVETFPATVN GTVEGGSGAG RLDLPPGFMF
KVQAQHDYTA TDTDELQLKA GDVVLVIPFQ NPEEQDEGWL MGVKESDWNQ HKELEKCRGV
FPENFTERVP *
mutated AA sequence MAEMGSKGVT AGKIASNVQK KLTRAQEKVL QKLGKADETK DEQFEQCVQN FNKQLTEGTR
LQKDLRTYLA SVKAMHEASK KLNECLQEVY EPDWPGRDEA NKIAENNDLL WMDYHQKLVD
QALLTMDTYL GQFPDIKSRI AKRGRKLVDY NSARHHYESL QTAKKKDEAK IAKPVSLLEK
AAPQWCQGKL QAHLVAQTNL LRNQAEEELI KAQKVFEEMN VDLQEELPSL WNSRVGFYVN
TFQSIAGLEE NFHKEMSKLN QNLNDVLVGL EKQHGSNTFT VKAQPSDNAP AKGNKSPSPP
DGSPAATPEI RVNHEPEPAG GATPGATLPK SPSQFEAPGP FSEQASLLDL DFDPLPPVTS
PVKAPTPSGQ SIPWDLWEPT ESPAGSLPSG EPSAAEGTFA VSWPSQTAEP GPAQPAEASE
VAGGTQPAAG AQEPGETAAS EAASSSLPAV VVETFPATVN GTVEGGSGAG RLDLPPGFMF
KVQAQHDYTA TDTDELQLKA GDVVLVIPFQ NPEEQDEGWL MGVKESDWNQ HKELEKCRGV
FPENFTERVP *
speed 0.78 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: 0.999999999971452 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM074066)
  • known disease mutation: rs8298 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr2:127826568C>TN/A show variant in all transcripts   IGV
HGNC symbol BIN1
Ensembl transcript ID ENST00000393040
Genbank transcript ID NM_139348
UniProt peptide O00499
alteration type single base exchange
alteration region CDS
DNA changes c.451G>A
cDNA.796G>A
g.38364G>A
AA changes D151N Score: 23 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 151
frameshift no
known variant Reference ID: rs121909274
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs8298 (pathogenic for Myopathy, centronuclear, 2) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM074066)

known disease mutation at this position, please check HGMD for details (HGMD ID CM074066)
known disease mutation at this position, please check HGMD for details (HGMD ID CM074066)
regulatory features DNase1, Open Chromatin, DNase1 Hypersensitive Site
Gene Associated, Regulatory Feature, Gene associated regulatory feature
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)4.1191
4.9891
(flanking)-0.2760.976
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased38362wt: 0.8355 / mu: 0.9079 (marginal change - not scored)wt: GGACTACGACAGTGC
mu: GGACTACAACAGTGC		 ACTA|cgac
Donor gained383640.85mu: ACTACAACAGTGCCC TACA|acag
distance from splice site 40
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      151IAKRGRKLVDYDSARHHYESLQTA
mutated  all conserved    151IAKRGRKLVDYNSARHHYESLQT
Ptroglodytes  all identical  ENSPTRG00000012423  151IAKRGRKLVDYDSARHHYESLQT
Mmulatta  no homologue    
Fcatus  all identical  ENSFCAG00000000531  123DYDSARHHYESLQT
Mmusculus  all identical  ENSMUSG00000024381  151IAKRGRKLVDYDSARHHYESLQT
Ggallus  all identical  ENSGALG00000011541  151IAKRGRKLVDYDSARHHFEALQT
Trubripes  all identical  ENSTRUG00000013580  152IAKRDRKLVDYDSARHNYAITHK
Drerio  all identical  ENSDARG00000042114  152IAKRDRKLVDFDSARHNFAAVNK
Dmelanogaster  all identical  FBgn0027356  146VEKRNRKLIDYDGQRHSFQNLQANA
Celegans  all identical  F58G6.1  142IEKRGRKLVDYDSAKNSFNSVKA
Xtropicalis  all identical  ENSXETG00000000473  122DYDSARHHFESLQN
protein features
start (aa)end (aa)featuredetails 
29276DOMAINBAR.lost
133161HELIXlost
193267COILEDPotential.might get lost (downstream of altered splice site)
205268HELIXmight get lost (downstream of altered splice site)
296296MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
298298MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
303303MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
307307MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
323323MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
331331MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
378421REGIONClathrin-binding.might get lost (downstream of altered splice site)
474474CONFLICTA -> P (in Ref. 2; AAB63263).might get lost (downstream of altered splice site)
481481CONFLICTA -> S (in Ref. 10; AAC24126/AAC23750/ AAC23751).might get lost (downstream of altered splice site)
510510CONFLICTS -> C (in Ref. 7; AAC23440/AAC23441).might get lost (downstream of altered splice site)
520592DOMAINSH3.might get lost (downstream of altered splice site)
523527STRANDmight get lost (downstream of altered splice site)
528528CONFLICTQ -> H (in Ref. 7; AAC23440/AAC23441).might get lost (downstream of altered splice site)
535537STRANDmight get lost (downstream of altered splice site)
546549STRANDmight get lost (downstream of altered splice site)
555557HELIXmight get lost (downstream of altered splice site)
562567STRANDmight get lost (downstream of altered splice site)
568572HELIXmight get lost (downstream of altered splice site)
573579HELIXmight get lost (downstream of altered splice site)
576576CONFLICTE -> K (in Ref. 7; AAC23440/AAC23441).might get lost (downstream of altered splice site)
582585STRANDmight get lost (downstream of altered splice site)
586588HELIXmight get lost (downstream of altered splice site)
589591STRANDmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1449 / 1449
position (AA) of stopcodon in wt / mu AA sequence 483 / 483
position of stopcodon in wt / mu cDNA 1794 / 1794
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 346 / 346
chromosome 2
strand -1
last intron/exon boundary 1687
theoretical NMD boundary in CDS 1291
length of CDS 1449
coding sequence (CDS) position 451
cDNA position
(for ins/del: last normal base / first normal base)		 796
gDNA position
(for ins/del: last normal base / first normal base)		 38364
chromosomal position
(for ins/del: last normal base / first normal base)		 127826568
original gDNA sequence snippet GGCGCAAGCTGGTGGACTACGACAGTGCCCGGCACCACTAC
altered gDNA sequence snippet GGCGCAAGCTGGTGGACTACAACAGTGCCCGGCACCACTAC
original cDNA sequence snippet GGCGCAAGCTGGTGGACTACGACAGTGCCCGGCACCACTAC
altered cDNA sequence snippet GGCGCAAGCTGGTGGACTACAACAGTGCCCGGCACCACTAC
wildtype AA sequence MAEMGSKGVT AGKIASNVQK KLTRAQEKVL QKLGKADETK DEQFEQCVQN FNKQLTEGTR
LQKDLRTYLA SVKAMHEASK KLNECLQEVY EPDWPGRDEA NKIAENNDLL WMDYHQKLVD
QALLTMDTYL GQFPDIKSRI AKRGRKLVDY DSARHHYESL QTAKKKDEAK IAKAEEELIK
AQKVFEEMNV DLQEELPSLW NSRVGFYVNT FQSIAGLEEN FHKEMSKLNQ NLNDVLVGLE
KQHGSNTFTV KAQPSDNAPA KGNKSPSPPD GSPAATPEIR VNHEPEPAGG ATPGATLPKS
PSQLRKGPPV PPPPKHTPSK EVKQEQILSL FEDTFVPEIS VTTPSQPAEA SEVAGGTQPA
AGAQEPGETA ASEAASSSLP AVVVETFPAT VNGTVEGGSG AGRLDLPPGF MFKVQAQHDY
TATDTDELQL KAGDVVLVIP FQNPEEQDEG WLMGVKESDW NQHKELEKCR GVFPENFTER
VP*
mutated AA sequence MAEMGSKGVT AGKIASNVQK KLTRAQEKVL QKLGKADETK DEQFEQCVQN FNKQLTEGTR
LQKDLRTYLA SVKAMHEASK KLNECLQEVY EPDWPGRDEA NKIAENNDLL WMDYHQKLVD
QALLTMDTYL GQFPDIKSRI AKRGRKLVDY NSARHHYESL QTAKKKDEAK IAKAEEELIK
AQKVFEEMNV DLQEELPSLW NSRVGFYVNT FQSIAGLEEN FHKEMSKLNQ NLNDVLVGLE
KQHGSNTFTV KAQPSDNAPA KGNKSPSPPD GSPAATPEIR VNHEPEPAGG ATPGATLPKS
PSQLRKGPPV PPPPKHTPSK EVKQEQILSL FEDTFVPEIS VTTPSQPAEA SEVAGGTQPA
AGAQEPGETA ASEAASSSLP AVVVETFPAT VNGTVEGGSG AGRLDLPPGF MFKVQAQHDY
TATDTDELQL KAGDVVLVIP FQNPEEQDEG WLMGVKESDW NQHKELEKCR GVFPENFTER
VP*
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
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999999971452 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM074066)
  • known disease mutation: rs8298 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr2:127826568C>TN/A show variant in all transcripts   IGV
HGNC symbol BIN1
Ensembl transcript ID ENST00000348750
Genbank transcript ID NM_139351
UniProt peptide O00499
alteration type single base exchange
alteration region CDS
DNA changes c.451G>A
cDNA.796G>A
g.38364G>A
AA changes D151N Score: 23 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 151
frameshift no
known variant Reference ID: rs121909274
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs8298 (pathogenic for Myopathy, centronuclear, 2) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM074066)

known disease mutation at this position, please check HGMD for details (HGMD ID CM074066)
known disease mutation at this position, please check HGMD for details (HGMD ID CM074066)
regulatory features DNase1, Open Chromatin, DNase1 Hypersensitive Site
Gene Associated, Regulatory Feature, Gene associated regulatory feature
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)4.1191
4.9891
(flanking)-0.2760.976
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased38362wt: 0.8355 / mu: 0.9079 (marginal change - not scored)wt: GGACTACGACAGTGC
mu: GGACTACAACAGTGC		 ACTA|cgac
Donor gained383640.85mu: ACTACAACAGTGCCC TACA|acag
distance from splice site 40
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      151IAKRGRKLVDYDSARHHYESLQTA
mutated  all conserved    151IAKRGRKLVDYNSARHHYESLQT
Ptroglodytes  all identical  ENSPTRG00000012423  151IAKRGRKLVDYDSARHHYESLQT
Mmulatta  no homologue    
Fcatus  all identical  ENSFCAG00000000531  123DYDSARHHYESLQT
Mmusculus  all identical  ENSMUSG00000024381  151IAKRGRKLVDYDSARHHYESLQT
Ggallus  all identical  ENSGALG00000011541  151IAKRGRKLVDYDSARHHFEALQT
Trubripes  all identical  ENSTRUG00000013580  152IAKRDRKLVDYDSARHNYAITHK
Drerio  all identical  ENSDARG00000042114  152IAKRDRKLVDFDSARHNFAAVNK
Dmelanogaster  all identical  FBgn0027356  146VEKRNRKLIDYDGQRHSFQNLQANA
Celegans  all identical  F58G6.1  142IEKRGRKLVDYDSAKNSFNSVKA
Xtropicalis  all identical  ENSXETG00000000473  122DYDSARHHFESLQN
protein features
start (aa)end (aa)featuredetails 
29276DOMAINBAR.lost
133161HELIXlost
193267COILEDPotential.might get lost (downstream of altered splice site)
205268HELIXmight get lost (downstream of altered splice site)
296296MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
298298MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
303303MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
307307MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
323323MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
331331MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
378421REGIONClathrin-binding.might get lost (downstream of altered splice site)
474474CONFLICTA -> P (in Ref. 2; AAB63263).might get lost (downstream of altered splice site)
481481CONFLICTA -> S (in Ref. 10; AAC24126/AAC23750/ AAC23751).might get lost (downstream of altered splice site)
510510CONFLICTS -> C (in Ref. 7; AAC23440/AAC23441).might get lost (downstream of altered splice site)
520592DOMAINSH3.might get lost (downstream of altered splice site)
523527STRANDmight get lost (downstream of altered splice site)
528528CONFLICTQ -> H (in Ref. 7; AAC23440/AAC23441).might get lost (downstream of altered splice site)
535537STRANDmight get lost (downstream of altered splice site)
546549STRANDmight get lost (downstream of altered splice site)
555557HELIXmight get lost (downstream of altered splice site)
562567STRANDmight get lost (downstream of altered splice site)
568572HELIXmight get lost (downstream of altered splice site)
573579HELIXmight get lost (downstream of altered splice site)
576576CONFLICTE -> K (in Ref. 7; AAC23440/AAC23441).might get lost (downstream of altered splice site)
582585STRANDmight get lost (downstream of altered splice site)
586588HELIXmight get lost (downstream of altered splice site)
589591STRANDmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1230 / 1230
position (AA) of stopcodon in wt / mu AA sequence 410 / 410
position of stopcodon in wt / mu cDNA 1575 / 1575
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 346 / 346
chromosome 2
strand -1
last intron/exon boundary 1468
theoretical NMD boundary in CDS 1072
length of CDS 1230
coding sequence (CDS) position 451
cDNA position
(for ins/del: last normal base / first normal base)		 796
gDNA position
(for ins/del: last normal base / first normal base)		 38364
chromosomal position
(for ins/del: last normal base / first normal base)		 127826568
original gDNA sequence snippet GGCGCAAGCTGGTGGACTACGACAGTGCCCGGCACCACTAC
altered gDNA sequence snippet GGCGCAAGCTGGTGGACTACAACAGTGCCCGGCACCACTAC
original cDNA sequence snippet GGCGCAAGCTGGTGGACTACGACAGTGCCCGGCACCACTAC
altered cDNA sequence snippet GGCGCAAGCTGGTGGACTACAACAGTGCCCGGCACCACTAC
wildtype AA sequence MAEMGSKGVT AGKIASNVQK KLTRAQEKVL QKLGKADETK DEQFEQCVQN FNKQLTEGTR
LQKDLRTYLA SVKAMHEASK KLNECLQEVY EPDWPGRDEA NKIAENNDLL WMDYHQKLVD
QALLTMDTYL GQFPDIKSRI AKRGRKLVDY DSARHHYESL QTAKKKDEAK IAKAEEELIK
AQKVFEEMNV DLQEELPSLW NSRVGFYVNT FQSIAGLEEN FHKEMSKLNQ NLNDVLVGLE
KQHGSNTFTV KAQPSDNAPA KGNKSPSPPD GSPAATPEIR VNHEPEPAGG ATPGATLPKS
PSQSSLPAVV VETFPATVNG TVEGGSGAGR LDLPPGFMFK VQAQHDYTAT DTDELQLKAG
DVVLVIPFQN PEEQDEGWLM GVKESDWNQH KELEKCRGVF PENFTERVP*
mutated AA sequence MAEMGSKGVT AGKIASNVQK KLTRAQEKVL QKLGKADETK DEQFEQCVQN FNKQLTEGTR
LQKDLRTYLA SVKAMHEASK KLNECLQEVY EPDWPGRDEA NKIAENNDLL WMDYHQKLVD
QALLTMDTYL GQFPDIKSRI AKRGRKLVDY NSARHHYESL QTAKKKDEAK IAKAEEELIK
AQKVFEEMNV DLQEELPSLW NSRVGFYVNT FQSIAGLEEN FHKEMSKLNQ NLNDVLVGLE
KQHGSNTFTV KAQPSDNAPA KGNKSPSPPD GSPAATPEIR VNHEPEPAGG ATPGATLPKS
PSQSSLPAVV VETFPATVNG TVEGGSGAGR LDLPPGFMFK VQAQHDYTAT DTDELQLKAG
DVVLVIPFQN PEEQDEGWLM GVKESDWNQH KELEKCRGVF PENFTERVP*
speed 0.79 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: 0.999999999971452 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM074066)
  • known disease mutation: rs8298 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr2:127826568C>TN/A show variant in all transcripts   IGV
HGNC symbol BIN1
Ensembl transcript ID ENST00000259238
Genbank transcript ID NM_139346
UniProt peptide O00499
alteration type single base exchange
alteration region CDS
DNA changes c.451G>A
cDNA.796G>A
g.38364G>A
AA changes D151N Score: 23 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 151
frameshift no
known variant Reference ID: rs121909274
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs8298 (pathogenic for Myopathy, centronuclear, 2) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM074066)

known disease mutation at this position, please check HGMD for details (HGMD ID CM074066)
known disease mutation at this position, please check HGMD for details (HGMD ID CM074066)
regulatory features DNase1, Open Chromatin, DNase1 Hypersensitive Site
Gene Associated, Regulatory Feature, Gene associated regulatory feature
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)4.1191
4.9891
(flanking)-0.2760.976
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased38362wt: 0.8355 / mu: 0.9079 (marginal change - not scored)wt: GGACTACGACAGTGC
mu: GGACTACAACAGTGC		 ACTA|cgac
Donor gained383640.85mu: ACTACAACAGTGCCC TACA|acag
distance from splice site 40
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      151IAKRGRKLVDYDSARHHYESLQTA
mutated  all conserved    151IAKRGRKLVDYNSARHHYESLQT
Ptroglodytes  all identical  ENSPTRG00000012423  151IAKRGRKLVDYDSARHHYESLQT
Mmulatta  no homologue    
Fcatus  all identical  ENSFCAG00000000531  123DYDSARHHYESLQT
Mmusculus  all identical  ENSMUSG00000024381  151IAKRGRKLVDYDSARHHYESLQT
Ggallus  all identical  ENSGALG00000011541  151IAKRGRKLVDYDSARHHFEALQT
Trubripes  all identical  ENSTRUG00000013580  152IAKRDRKLVDYDSARHNYAITHK
Drerio  all identical  ENSDARG00000042114  152IAKRDRKLVDFDSARHNFAAVNK
Dmelanogaster  all identical  FBgn0027356  146VEKRNRKLIDYDGQRHSFQNLQANA
Celegans  all identical  F58G6.1  142IEKRGRKLVDYDSAKNSFNSVKA
Xtropicalis  all identical  ENSXETG00000000473  122DYDSARHHFESLQN
protein features
start (aa)end (aa)featuredetails 
29276DOMAINBAR.lost
133161HELIXlost
193267COILEDPotential.might get lost (downstream of altered splice site)
205268HELIXmight get lost (downstream of altered splice site)
296296MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
298298MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
303303MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
307307MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
323323MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
331331MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
378421REGIONClathrin-binding.might get lost (downstream of altered splice site)
474474CONFLICTA -> P (in Ref. 2; AAB63263).might get lost (downstream of altered splice site)
481481CONFLICTA -> S (in Ref. 10; AAC24126/AAC23750/ AAC23751).might get lost (downstream of altered splice site)
510510CONFLICTS -> C (in Ref. 7; AAC23440/AAC23441).might get lost (downstream of altered splice site)
520592DOMAINSH3.might get lost (downstream of altered splice site)
523527STRANDmight get lost (downstream of altered splice site)
528528CONFLICTQ -> H (in Ref. 7; AAC23440/AAC23441).might get lost (downstream of altered splice site)
535537STRANDmight get lost (downstream of altered splice site)
546549STRANDmight get lost (downstream of altered splice site)
555557HELIXmight get lost (downstream of altered splice site)
562567STRANDmight get lost (downstream of altered splice site)
568572HELIXmight get lost (downstream of altered splice site)
573579HELIXmight get lost (downstream of altered splice site)
576576CONFLICTE -> K (in Ref. 7; AAC23440/AAC23441).might get lost (downstream of altered splice site)
582585STRANDmight get lost (downstream of altered splice site)
586588HELIXmight get lost (downstream of altered splice site)
589591STRANDmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1494 / 1494
position (AA) of stopcodon in wt / mu AA sequence 498 / 498
position of stopcodon in wt / mu cDNA 1839 / 1839
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 346 / 346
chromosome 2
strand -1
last intron/exon boundary 1732
theoretical NMD boundary in CDS 1336
length of CDS 1494
coding sequence (CDS) position 451
cDNA position
(for ins/del: last normal base / first normal base)		 796
gDNA position
(for ins/del: last normal base / first normal base)		 38364
chromosomal position
(for ins/del: last normal base / first normal base)		 127826568
original gDNA sequence snippet GGCGCAAGCTGGTGGACTACGACAGTGCCCGGCACCACTAC
altered gDNA sequence snippet GGCGCAAGCTGGTGGACTACAACAGTGCCCGGCACCACTAC
original cDNA sequence snippet GGCGCAAGCTGGTGGACTACGACAGTGCCCGGCACCACTAC
altered cDNA sequence snippet GGCGCAAGCTGGTGGACTACAACAGTGCCCGGCACCACTAC
wildtype AA sequence MAEMGSKGVT AGKIASNVQK KLTRAQEKVL QKLGKADETK DEQFEQCVQN FNKQLTEGTR
LQKDLRTYLA SVKAMHEASK KLNECLQEVY EPDWPGRDEA NKIAENNDLL WMDYHQKLVD
QALLTMDTYL GQFPDIKSRI AKRGRKLVDY DSARHHYESL QTAKKKDEAK IAKAEEELIK
AQKVFEEMNV DLQEELPSLW NSRVGFYVNT FQSIAGLEEN FHKEMSKLNQ NLNDVLVGLE
KQHGSNTFTV KAQPRKKSKL FSRLRRKKNS DNAPAKGNKS PSPPDGSPAA TPEIRVNHEP
EPAGGATPGA TLPKSPSQLR KGPPVPPPPK HTPSKEVKQE QILSLFEDTF VPEISVTTPS
QPAEASEVAG GTQPAAGAQE PGETAASEAA SSSLPAVVVE TFPATVNGTV EGGSGAGRLD
LPPGFMFKVQ AQHDYTATDT DELQLKAGDV VLVIPFQNPE EQDEGWLMGV KESDWNQHKE
LEKCRGVFPE NFTERVP*
mutated AA sequence MAEMGSKGVT AGKIASNVQK KLTRAQEKVL QKLGKADETK DEQFEQCVQN FNKQLTEGTR
LQKDLRTYLA SVKAMHEASK KLNECLQEVY EPDWPGRDEA NKIAENNDLL WMDYHQKLVD
QALLTMDTYL GQFPDIKSRI AKRGRKLVDY NSARHHYESL QTAKKKDEAK IAKAEEELIK
AQKVFEEMNV DLQEELPSLW NSRVGFYVNT FQSIAGLEEN FHKEMSKLNQ NLNDVLVGLE
KQHGSNTFTV KAQPRKKSKL FSRLRRKKNS DNAPAKGNKS PSPPDGSPAA TPEIRVNHEP
EPAGGATPGA TLPKSPSQLR KGPPVPPPPK HTPSKEVKQE QILSLFEDTF VPEISVTTPS
QPAEASEVAG GTQPAAGAQE PGETAASEAA SSSLPAVVVE TFPATVNGTV EGGSGAGRLD
LPPGFMFKVQ AQHDYTATDT DELQLKAGDV VLVIPFQNPE EQDEGWLMGV KESDWNQHKE
LEKCRGVFPE NFTERVP*
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: simple_aae, prob: 0.999999999971452 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM074066)
  • known disease mutation: rs8298 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr2:127826568C>TN/A show variant in all transcripts   IGV
HGNC symbol BIN1
Ensembl transcript ID ENST00000346226
Genbank transcript ID NM_139347
UniProt peptide O00499
alteration type single base exchange
alteration region CDS
DNA changes c.451G>A
cDNA.796G>A
g.38364G>A
AA changes D151N Score: 23 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 151
frameshift no
known variant Reference ID: rs121909274
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs8298 (pathogenic for Myopathy, centronuclear, 2) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM074066)

known disease mutation at this position, please check HGMD for details (HGMD ID CM074066)
known disease mutation at this position, please check HGMD for details (HGMD ID CM074066)
regulatory features DNase1, Open Chromatin, DNase1 Hypersensitive Site
Gene Associated, Regulatory Feature, Gene associated regulatory feature
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)4.1191
4.9891
(flanking)-0.2760.976
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased38362wt: 0.8355 / mu: 0.9079 (marginal change - not scored)wt: GGACTACGACAGTGC
mu: GGACTACAACAGTGC		 ACTA|cgac
Donor gained383640.85mu: ACTACAACAGTGCCC TACA|acag
distance from splice site 40
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      151IAKRGRKLVDYDSARHHYESLQTA
mutated  all conserved    151IAKRGRKLVDYNSARHHYESLQT
Ptroglodytes  all identical  ENSPTRG00000012423  151IAKRGRKLVDYDSARHHYESLQT
Mmulatta  no homologue    
Fcatus  all identical  ENSFCAG00000000531  123DYDSARHHYESLQT
Mmusculus  all identical  ENSMUSG00000024381  151IAKRGRKLVDYDSARHHYESLQT
Ggallus  all identical  ENSGALG00000011541  151IAKRGRKLVDYDSARHHFEALQT
Trubripes  all identical  ENSTRUG00000013580  152IAKRDRKLVDYDSARHNYAITHK
Drerio  all identical  ENSDARG00000042114  152IAKRDRKLVDFDSARHNFAAVNK
Dmelanogaster  all identical  FBgn0027356  146VEKRNRKLIDYDGQRHSFQNLQA
Celegans  all identical  F58G6.1  142IEKRGRKLVDYDSAKNSFNSVKA
Xtropicalis  all identical  ENSXETG00000000473  122DYDSARHHFESLQN
protein features
start (aa)end (aa)featuredetails 
29276DOMAINBAR.lost
133161HELIXlost
193267COILEDPotential.might get lost (downstream of altered splice site)
205268HELIXmight get lost (downstream of altered splice site)
296296MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
298298MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
303303MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
307307MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
323323MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
331331MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
378421REGIONClathrin-binding.might get lost (downstream of altered splice site)
474474CONFLICTA -> P (in Ref. 2; AAB63263).might get lost (downstream of altered splice site)
481481CONFLICTA -> S (in Ref. 10; AAC24126/AAC23750/ AAC23751).might get lost (downstream of altered splice site)
510510CONFLICTS -> C (in Ref. 7; AAC23440/AAC23441).might get lost (downstream of altered splice site)
520592DOMAINSH3.might get lost (downstream of altered splice site)
523527STRANDmight get lost (downstream of altered splice site)
528528CONFLICTQ -> H (in Ref. 7; AAC23440/AAC23441).might get lost (downstream of altered splice site)
535537STRANDmight get lost (downstream of altered splice site)
546549STRANDmight get lost (downstream of altered splice site)
555557HELIXmight get lost (downstream of altered splice site)
562567STRANDmight get lost (downstream of altered splice site)
568572HELIXmight get lost (downstream of altered splice site)
573579HELIXmight get lost (downstream of altered splice site)
576576CONFLICTE -> K (in Ref. 7; AAC23440/AAC23441).might get lost (downstream of altered splice site)
582585STRANDmight get lost (downstream of altered splice site)
586588HELIXmight get lost (downstream of altered splice site)
589591STRANDmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1557 / 1557
position (AA) of stopcodon in wt / mu AA sequence 519 / 519
position of stopcodon in wt / mu cDNA 1902 / 1902
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 346 / 346
chromosome 2
strand -1
last intron/exon boundary 1795
theoretical NMD boundary in CDS 1399
length of CDS 1557
coding sequence (CDS) position 451
cDNA position
(for ins/del: last normal base / first normal base)		 796
gDNA position
(for ins/del: last normal base / first normal base)		 38364
chromosomal position
(for ins/del: last normal base / first normal base)		 127826568
original gDNA sequence snippet GGCGCAAGCTGGTGGACTACGACAGTGCCCGGCACCACTAC
altered gDNA sequence snippet GGCGCAAGCTGGTGGACTACAACAGTGCCCGGCACCACTAC
original cDNA sequence snippet GGCGCAAGCTGGTGGACTACGACAGTGCCCGGCACCACTAC
altered cDNA sequence snippet GGCGCAAGCTGGTGGACTACAACAGTGCCCGGCACCACTAC
wildtype AA sequence MAEMGSKGVT AGKIASNVQK KLTRAQEKVL QKLGKADETK DEQFEQCVQN FNKQLTEGTR
LQKDLRTYLA SVKAMHEASK KLNECLQEVY EPDWPGRDEA NKIAENNDLL WMDYHQKLVD
QALLTMDTYL GQFPDIKSRI AKRGRKLVDY DSARHHYESL QTAKKKDEAK IAKAEEELIK
AQKVFEEMNV DLQEELPSLW NSRVGFYVNT FQSIAGLEEN FHKEMSKLNQ NLNDVLVGLE
KQHGSNTFTV KAQPSDNAPA KGNKSPSPPD GSPAATPEIR VNHEPEPAGG ATPGATLPKS
PSQLRKGPPV PPPPKHTPSK EVKQEQILSL FEDTFVPEIS VTTPSQPTES PAGSLPSGEP
SAAEGTFAVS WPSQTAEPGP AQPAEASEVA GGTQPAAGAQ EPGETAASEA ASSSLPAVVV
ETFPATVNGT VEGGSGAGRL DLPPGFMFKV QAQHDYTATD TDELQLKAGD VVLVIPFQNP
EEQDEGWLMG VKESDWNQHK ELEKCRGVFP ENFTERVP*
mutated AA sequence MAEMGSKGVT AGKIASNVQK KLTRAQEKVL QKLGKADETK DEQFEQCVQN FNKQLTEGTR
LQKDLRTYLA SVKAMHEASK KLNECLQEVY EPDWPGRDEA NKIAENNDLL WMDYHQKLVD
QALLTMDTYL GQFPDIKSRI AKRGRKLVDY NSARHHYESL QTAKKKDEAK IAKAEEELIK
AQKVFEEMNV DLQEELPSLW NSRVGFYVNT FQSIAGLEEN FHKEMSKLNQ NLNDVLVGLE
KQHGSNTFTV KAQPSDNAPA KGNKSPSPPD GSPAATPEIR VNHEPEPAGG ATPGATLPKS
PSQLRKGPPV PPPPKHTPSK EVKQEQILSL FEDTFVPEIS VTTPSQPTES PAGSLPSGEP
SAAEGTFAVS WPSQTAEPGP AQPAEASEVA GGTQPAAGAQ EPGETAASEA ASSSLPAVVV
ETFPATVNGT VEGGSGAGRL DLPPGFMFKV QAQHDYTATD TDELQLKAGD VVLVIPFQNP
EEQDEGWLMG VKESDWNQHK ELEKCRGVFP ENFTERVP*
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: 0.999999999971452 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM074066)
  • known disease mutation: rs8298 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr2:127826568C>TN/A show variant in all transcripts   IGV
HGNC symbol BIN1
Ensembl transcript ID ENST00000393041
Genbank transcript ID NM_139349
UniProt peptide O00499
alteration type single base exchange
alteration region CDS
DNA changes c.451G>A
cDNA.796G>A
g.38364G>A
AA changes D151N Score: 23 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 151
frameshift no
known variant Reference ID: rs121909274
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs8298 (pathogenic for Myopathy, centronuclear, 2) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM074066)

known disease mutation at this position, please check HGMD for details (HGMD ID CM074066)
known disease mutation at this position, please check HGMD for details (HGMD ID CM074066)
regulatory features DNase1, Open Chromatin, DNase1 Hypersensitive Site
Gene Associated, Regulatory Feature, Gene associated regulatory feature
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)4.1191
4.9891
(flanking)-0.2760.976
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased38362wt: 0.8355 / mu: 0.9079 (marginal change - not scored)wt: GGACTACGACAGTGC
mu: GGACTACAACAGTGC		 ACTA|cgac
Donor gained383640.85mu: ACTACAACAGTGCCC TACA|acag
distance from splice site 40
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      151IAKRGRKLVDYDSARHHYESLQTA
mutated  all conserved    151IAKRGRKLVDYNSARHHYESLQT
Ptroglodytes  all identical  ENSPTRG00000012423  151IAKRGRKLVDYDSARHHYESLQT
Mmulatta  no homologue    
Fcatus  all identical  ENSFCAG00000000531  123DYDSARHHYESLQT
Mmusculus  all identical  ENSMUSG00000024381  151IAKRGRKLVDYDSARHHYESLQT
Ggallus  all identical  ENSGALG00000011541  151IAKRGRKLVDYDSARHHFEALQT
Trubripes  all identical  ENSTRUG00000013580  152IAKRDRKLVDYDSARHNYAITHK
Drerio  all identical  ENSDARG00000042114  152IAKRDRKLVDFDSARHNFAAVNK
Dmelanogaster  all identical  FBgn0027356  146VEKRNRKLIDYDGQRHSFQNLQANA
Celegans  all identical  F58G6.1  142IEKRGRKLVDYDSAKNSFNSVKA
Xtropicalis  all identical  ENSXETG00000000473  122DYDSARHHFESLQN
protein features
start (aa)end (aa)featuredetails 
29276DOMAINBAR.lost
133161HELIXlost
193267COILEDPotential.might get lost (downstream of altered splice site)
205268HELIXmight get lost (downstream of altered splice site)
296296MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
298298MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
303303MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
307307MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
323323MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
331331MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
378421REGIONClathrin-binding.might get lost (downstream of altered splice site)
474474CONFLICTA -> P (in Ref. 2; AAB63263).might get lost (downstream of altered splice site)
481481CONFLICTA -> S (in Ref. 10; AAC24126/AAC23750/ AAC23751).might get lost (downstream of altered splice site)
510510CONFLICTS -> C (in Ref. 7; AAC23440/AAC23441).might get lost (downstream of altered splice site)
520592DOMAINSH3.might get lost (downstream of altered splice site)
523527STRANDmight get lost (downstream of altered splice site)
528528CONFLICTQ -> H (in Ref. 7; AAC23440/AAC23441).might get lost (downstream of altered splice site)
535537STRANDmight get lost (downstream of altered splice site)
546549STRANDmight get lost (downstream of altered splice site)
555557HELIXmight get lost (downstream of altered splice site)
562567STRANDmight get lost (downstream of altered splice site)
568572HELIXmight get lost (downstream of altered splice site)
573579HELIXmight get lost (downstream of altered splice site)
576576CONFLICTE -> K (in Ref. 7; AAC23440/AAC23441).might get lost (downstream of altered splice site)
582585STRANDmight get lost (downstream of altered splice site)
586588HELIXmight get lost (downstream of altered splice site)
589591STRANDmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1428 / 1428
position (AA) of stopcodon in wt / mu AA sequence 476 / 476
position of stopcodon in wt / mu cDNA 1773 / 1773
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 346 / 346
chromosome 2
strand -1
last intron/exon boundary 1666
theoretical NMD boundary in CDS 1270
length of CDS 1428
coding sequence (CDS) position 451
cDNA position
(for ins/del: last normal base / first normal base)		 796
gDNA position
(for ins/del: last normal base / first normal base)		 38364
chromosomal position
(for ins/del: last normal base / first normal base)		 127826568
original gDNA sequence snippet GGCGCAAGCTGGTGGACTACGACAGTGCCCGGCACCACTAC
altered gDNA sequence snippet GGCGCAAGCTGGTGGACTACAACAGTGCCCGGCACCACTAC
original cDNA sequence snippet GGCGCAAGCTGGTGGACTACGACAGTGCCCGGCACCACTAC
altered cDNA sequence snippet GGCGCAAGCTGGTGGACTACAACAGTGCCCGGCACCACTAC
wildtype AA sequence MAEMGSKGVT AGKIASNVQK KLTRAQEKVL QKLGKADETK DEQFEQCVQN FNKQLTEGTR
LQKDLRTYLA SVKAMHEASK KLNECLQEVY EPDWPGRDEA NKIAENNDLL WMDYHQKLVD
QALLTMDTYL GQFPDIKSRI AKRGRKLVDY DSARHHYESL QTAKKKDEAK IAKAEEELIK
AQKVFEEMNV DLQEELPSLW NSRVGFYVNT FQSIAGLEEN FHKEMSKLNQ NLNDVLVGLE
KQHGSNTFTV KAQPSDNAPA KGNKSPSPPD GSPAATPEIR VNHEPEPAGG ATPGATLPKS
PSQPTESPAG SLPSGEPSAA EGTFAVSWPS QTAEPGPAQP AEASEVAGGT QPAAGAQEPG
ETAASEAASS SLPAVVVETF PATVNGTVEG GSGAGRLDLP PGFMFKVQAQ HDYTATDTDE
LQLKAGDVVL VIPFQNPEEQ DEGWLMGVKE SDWNQHKELE KCRGVFPENF TERVP*
mutated AA sequence MAEMGSKGVT AGKIASNVQK KLTRAQEKVL QKLGKADETK DEQFEQCVQN FNKQLTEGTR
LQKDLRTYLA SVKAMHEASK KLNECLQEVY EPDWPGRDEA NKIAENNDLL WMDYHQKLVD
QALLTMDTYL GQFPDIKSRI AKRGRKLVDY NSARHHYESL QTAKKKDEAK IAKAEEELIK
AQKVFEEMNV DLQEELPSLW NSRVGFYVNT FQSIAGLEEN FHKEMSKLNQ NLNDVLVGLE
KQHGSNTFTV KAQPSDNAPA KGNKSPSPPD GSPAATPEIR VNHEPEPAGG ATPGATLPKS
PSQPTESPAG SLPSGEPSAA EGTFAVSWPS QTAEPGPAQP AEASEVAGGT QPAAGAQEPG
ETAASEAASS SLPAVVVETF PATVNGTVEG GSGAGRLDLP PGFMFKVQAQ HDYTATDTDE
LQLKAGDVVL VIPFQNPEEQ DEGWLMGVKE SDWNQHKELE KCRGVFPENF TERVP*
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: simple_aae, prob: 0.999999999971452 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM074066)
  • known disease mutation: rs8298 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr2:127826568C>TN/A show variant in all transcripts   IGV
HGNC symbol BIN1
Ensembl transcript ID ENST00000351659
Genbank transcript ID NM_139345
UniProt peptide O00499
alteration type single base exchange
alteration region CDS
DNA changes c.451G>A
cDNA.796G>A
g.38364G>A
AA changes D151N Score: 23 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 151
frameshift no
known variant Reference ID: rs121909274
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs8298 (pathogenic for Myopathy, centronuclear, 2) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM074066)

known disease mutation at this position, please check HGMD for details (HGMD ID CM074066)
known disease mutation at this position, please check HGMD for details (HGMD ID CM074066)
regulatory features DNase1, Open Chromatin, DNase1 Hypersensitive Site
Gene Associated, Regulatory Feature, Gene associated regulatory feature
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)4.1191
4.9891
(flanking)-0.2760.976
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased38362wt: 0.8355 / mu: 0.9079 (marginal change - not scored)wt: GGACTACGACAGTGC
mu: GGACTACAACAGTGC		 ACTA|cgac
Donor gained383640.85mu: ACTACAACAGTGCCC TACA|acag
distance from splice site 40
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      151IAKRGRKLVDYDSARHHYESLQTA
mutated  all conserved    151IAKRGRKLVDYNSARHHYESLQT
Ptroglodytes  all identical  ENSPTRG00000012423  151IAKRGRKLVDYDSARHHYESLQT
Mmulatta  no homologue    
Fcatus  all identical  ENSFCAG00000000531  123DYDSARHHYESLQT
Mmusculus  all identical  ENSMUSG00000024381  151IAKRGRKLVDYDSARHHYESLQT
Ggallus  all identical  ENSGALG00000011541  151IAKRGRKLVDYDSARHHFEALQT
Trubripes  all identical  ENSTRUG00000013580  152IAKRDRKLVDYDSARHNYAITHK
Drerio  all identical  ENSDARG00000042114  152IAKRDRKLVDFDSARHNFAAVNK
Dmelanogaster  all identical  FBgn0027356  146VEKRNRKLIDYDGQRHSFQNLQANA
Celegans  all identical  F58G6.1  142IEKRGRKLVDYDSAKNSFNSVKA
Xtropicalis  all identical  ENSXETG00000000473  122DYDSARHHFESLQN
protein features
start (aa)end (aa)featuredetails 
29276DOMAINBAR.lost
133161HELIXlost
193267COILEDPotential.might get lost (downstream of altered splice site)
205268HELIXmight get lost (downstream of altered splice site)
296296MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
298298MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
303303MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
307307MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
323323MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
331331MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
378421REGIONClathrin-binding.might get lost (downstream of altered splice site)
474474CONFLICTA -> P (in Ref. 2; AAB63263).might get lost (downstream of altered splice site)
481481CONFLICTA -> S (in Ref. 10; AAC24126/AAC23750/ AAC23751).might get lost (downstream of altered splice site)
510510CONFLICTS -> C (in Ref. 7; AAC23440/AAC23441).might get lost (downstream of altered splice site)
520592DOMAINSH3.might get lost (downstream of altered splice site)
523527STRANDmight get lost (downstream of altered splice site)
528528CONFLICTQ -> H (in Ref. 7; AAC23440/AAC23441).might get lost (downstream of altered splice site)
535537STRANDmight get lost (downstream of altered splice site)
546549STRANDmight get lost (downstream of altered splice site)
555557HELIXmight get lost (downstream of altered splice site)
562567STRANDmight get lost (downstream of altered splice site)
568572HELIXmight get lost (downstream of altered splice site)
573579HELIXmight get lost (downstream of altered splice site)
576576CONFLICTE -> K (in Ref. 7; AAC23440/AAC23441).might get lost (downstream of altered splice site)
582585STRANDmight get lost (downstream of altered splice site)
586588HELIXmight get lost (downstream of altered splice site)
589591STRANDmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1521 / 1521
position (AA) of stopcodon in wt / mu AA sequence 507 / 507
position of stopcodon in wt / mu cDNA 1866 / 1866
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 346 / 346
chromosome 2
strand -1
last intron/exon boundary 1759
theoretical NMD boundary in CDS 1363
length of CDS 1521
coding sequence (CDS) position 451
cDNA position
(for ins/del: last normal base / first normal base)		 796
gDNA position
(for ins/del: last normal base / first normal base)		 38364
chromosomal position
(for ins/del: last normal base / first normal base)		 127826568
original gDNA sequence snippet GGCGCAAGCTGGTGGACTACGACAGTGCCCGGCACCACTAC
altered gDNA sequence snippet GGCGCAAGCTGGTGGACTACAACAGTGCCCGGCACCACTAC
original cDNA sequence snippet GGCGCAAGCTGGTGGACTACGACAGTGCCCGGCACCACTAC
altered cDNA sequence snippet GGCGCAAGCTGGTGGACTACAACAGTGCCCGGCACCACTAC
wildtype AA sequence MAEMGSKGVT AGKIASNVQK KLTRAQEKVL QKLGKADETK DEQFEQCVQN FNKQLTEGTR
LQKDLRTYLA SVKAMHEASK KLNECLQEVY EPDWPGRDEA NKIAENNDLL WMDYHQKLVD
QALLTMDTYL GQFPDIKSRI AKRGRKLVDY DSARHHYESL QTAKKKDEAK IAKPVSLLEK
AAPQWCQGKL QAHLVAQTNL LRNQAEEELI KAQKVFEEMN VDLQEELPSL WNSRVGFYVN
TFQSIAGLEE NFHKEMSKLN QNLNDVLVGL EKQHGSNTFT VKAQPSDNAP AKGNKSPSPP
DGSPAATPEI RVNHEPEPAG GATPGATLPK SPSQPTESPA GSLPSGEPSA AEGTFAVSWP
SQTAEPGPAQ PAEASEVAGG TQPAAGAQEP GETAASEAAS SSLPAVVVET FPATVNGTVE
GGSGAGRLDL PPGFMFKVQA QHDYTATDTD ELQLKAGDVV LVIPFQNPEE QDEGWLMGVK
ESDWNQHKEL EKCRGVFPEN FTERVP*
mutated AA sequence MAEMGSKGVT AGKIASNVQK KLTRAQEKVL QKLGKADETK DEQFEQCVQN FNKQLTEGTR
LQKDLRTYLA SVKAMHEASK KLNECLQEVY EPDWPGRDEA NKIAENNDLL WMDYHQKLVD
QALLTMDTYL GQFPDIKSRI AKRGRKLVDY NSARHHYESL QTAKKKDEAK IAKPVSLLEK
AAPQWCQGKL QAHLVAQTNL LRNQAEEELI KAQKVFEEMN VDLQEELPSL WNSRVGFYVN
TFQSIAGLEE NFHKEMSKLN QNLNDVLVGL EKQHGSNTFT VKAQPSDNAP AKGNKSPSPP
DGSPAATPEI RVNHEPEPAG GATPGATLPK SPSQPTESPA GSLPSGEPSA AEGTFAVSWP
SQTAEPGPAQ PAEASEVAGG TQPAAGAQEP GETAASEAAS SSLPAVVVET FPATVNGTVE
GGSGAGRLDL PPGFMFKVQA QHDYTATDTD ELQLKAGDVV LVIPFQNPEE QDEGWLMGVK
ESDWNQHKEL EKCRGVFPEN FTERVP*
speed 0.75 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: 0.999999999971452 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM074066)
  • known disease mutation: rs8298 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr2:127826568C>TN/A show variant in all transcripts   IGV
HGNC symbol BIN1
Ensembl transcript ID ENST00000316724
Genbank transcript ID NM_139343
UniProt peptide O00499
alteration type single base exchange
alteration region CDS
DNA changes c.451G>A
cDNA.863G>A
g.38364G>A
AA changes D151N Score: 23 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 151
frameshift no
known variant Reference ID: rs121909274
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs8298 (pathogenic for Myopathy, centronuclear, 2) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM074066)

known disease mutation at this position, please check HGMD for details (HGMD ID CM074066)
known disease mutation at this position, please check HGMD for details (HGMD ID CM074066)
regulatory features DNase1, Open Chromatin, DNase1 Hypersensitive Site
Gene Associated, Regulatory Feature, Gene associated regulatory feature
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)4.1191
4.9891
(flanking)-0.2760.976
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased38362wt: 0.8355 / mu: 0.9079 (marginal change - not scored)wt: GGACTACGACAGTGC
mu: GGACTACAACAGTGC		 ACTA|cgac
Donor gained383640.85mu: ACTACAACAGTGCCC TACA|acag
distance from splice site 40
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      151IAKRGRKLVDYDSARHHYESLQTA
mutated  all conserved    151IAKRGRKLVDYNSARHHYESLQT
Ptroglodytes  all identical  ENSPTRG00000012423  151IAKRGRKLVDYDSARHHYESLQT
Mmulatta  no homologue    
Fcatus  all identical  ENSFCAG00000000531  123DYDSARHHYESLQT
Mmusculus  all identical  ENSMUSG00000024381  151IAKRGRKLVDYDSARHHYESLQT
Ggallus  all identical  ENSGALG00000011541  151IAKRGRKLVDYDSARHHFEALQT
Trubripes  all identical  ENSTRUG00000013580  152IAKRDRKLVDYDSARHNYAITHK
Drerio  all identical  ENSDARG00000042114  152IAKRDRKLVDFDSARHNFAAVNK
Dmelanogaster  all identical  FBgn0027356  146VEKRNRKLIDYDGQRHSFQNLQA
Celegans  all identical  F58G6.1  142IEKRGRKLVDYDSAKNSFNSVKA
Xtropicalis  all identical  ENSXETG00000000473  122DYDSARHHFESLQN
protein features
start (aa)end (aa)featuredetails 
29276DOMAINBAR.lost
133161HELIXlost
193267COILEDPotential.might get lost (downstream of altered splice site)
205268HELIXmight get lost (downstream of altered splice site)
296296MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
298298MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
303303MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
307307MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
323323MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
331331MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
378421REGIONClathrin-binding.might get lost (downstream of altered splice site)
474474CONFLICTA -> P (in Ref. 2; AAB63263).might get lost (downstream of altered splice site)
481481CONFLICTA -> S (in Ref. 10; AAC24126/AAC23750/ AAC23751).might get lost (downstream of altered splice site)
510510CONFLICTS -> C (in Ref. 7; AAC23440/AAC23441).might get lost (downstream of altered splice site)
520592DOMAINSH3.might get lost (downstream of altered splice site)
523527STRANDmight get lost (downstream of altered splice site)
528528CONFLICTQ -> H (in Ref. 7; AAC23440/AAC23441).might get lost (downstream of altered splice site)
535537STRANDmight get lost (downstream of altered splice site)
546549STRANDmight get lost (downstream of altered splice site)
555557HELIXmight get lost (downstream of altered splice site)
562567STRANDmight get lost (downstream of altered splice site)
568572HELIXmight get lost (downstream of altered splice site)
573579HELIXmight get lost (downstream of altered splice site)
576576CONFLICTE -> K (in Ref. 7; AAC23440/AAC23441).might get lost (downstream of altered splice site)
582585STRANDmight get lost (downstream of altered splice site)
586588HELIXmight get lost (downstream of altered splice site)
589591STRANDmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1782 / 1782
position (AA) of stopcodon in wt / mu AA sequence 594 / 594
position of stopcodon in wt / mu cDNA 2194 / 2194
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 413 / 413
chromosome 2
strand -1
last intron/exon boundary 2087
theoretical NMD boundary in CDS 1624
length of CDS 1782
coding sequence (CDS) position 451
cDNA position
(for ins/del: last normal base / first normal base)		 863
gDNA position
(for ins/del: last normal base / first normal base)		 38364
chromosomal position
(for ins/del: last normal base / first normal base)		 127826568
original gDNA sequence snippet GGCGCAAGCTGGTGGACTACGACAGTGCCCGGCACCACTAC
altered gDNA sequence snippet GGCGCAAGCTGGTGGACTACAACAGTGCCCGGCACCACTAC
original cDNA sequence snippet GGCGCAAGCTGGTGGACTACGACAGTGCCCGGCACCACTAC
altered cDNA sequence snippet GGCGCAAGCTGGTGGACTACAACAGTGCCCGGCACCACTAC
wildtype AA sequence MAEMGSKGVT AGKIASNVQK KLTRAQEKVL QKLGKADETK DEQFEQCVQN FNKQLTEGTR
LQKDLRTYLA SVKAMHEASK KLNECLQEVY EPDWPGRDEA NKIAENNDLL WMDYHQKLVD
QALLTMDTYL GQFPDIKSRI AKRGRKLVDY DSARHHYESL QTAKKKDEAK IAKPVSLLEK
AAPQWCQGKL QAHLVAQTNL LRNQAEEELI KAQKVFEEMN VDLQEELPSL WNSRVGFYVN
TFQSIAGLEE NFHKEMSKLN QNLNDVLVGL EKQHGSNTFT VKAQPSDNAP AKGNKSPSPP
DGSPAATPEI RVNHEPEPAG GATPGATLPK SPSQLRKGPP VPPPPKHTPS KEVKQEQILS
LFEDTFVPEI SVTTPSQFEA PGPFSEQASL LDLDFDPLPP VTSPVKAPTP SGQSIPWDLW
EPTESPAGSL PSGEPSAAEG TFAVSWPSQT AEPGPAQPAE ASEVAGGTQP AAGAQEPGET
AASEAASSSL PAVVVETFPA TVNGTVEGGS GAGRLDLPPG FMFKVQAQHD YTATDTDELQ
LKAGDVVLVI PFQNPEEQDE GWLMGVKESD WNQHKELEKC RGVFPENFTE RVP*
mutated AA sequence MAEMGSKGVT AGKIASNVQK KLTRAQEKVL QKLGKADETK DEQFEQCVQN FNKQLTEGTR
LQKDLRTYLA SVKAMHEASK KLNECLQEVY EPDWPGRDEA NKIAENNDLL WMDYHQKLVD
QALLTMDTYL GQFPDIKSRI AKRGRKLVDY NSARHHYESL QTAKKKDEAK IAKPVSLLEK
AAPQWCQGKL QAHLVAQTNL LRNQAEEELI KAQKVFEEMN VDLQEELPSL WNSRVGFYVN
TFQSIAGLEE NFHKEMSKLN QNLNDVLVGL EKQHGSNTFT VKAQPSDNAP AKGNKSPSPP
DGSPAATPEI RVNHEPEPAG GATPGATLPK SPSQLRKGPP VPPPPKHTPS KEVKQEQILS
LFEDTFVPEI SVTTPSQFEA PGPFSEQASL LDLDFDPLPP VTSPVKAPTP SGQSIPWDLW
EPTESPAGSL PSGEPSAAEG TFAVSWPSQT AEPGPAQPAE ASEVAGGTQP AAGAQEPGET
AASEAASSSL PAVVVETFPA TVNGTVEGGS GAGRLDLPPG FMFKVQAQHD YTATDTDELQ
LKAGDVVLVI PFQNPEEQDE GWLMGVKESD WNQHKELEKC RGVFPENFTE RVP*
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: 0.999999999971452 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM074066)
  • known disease mutation: rs8298 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr2:127826568C>TN/A show variant in all transcripts   IGV
HGNC symbol BIN1
Ensembl transcript ID ENST00000352848
Genbank transcript ID NM_004305
UniProt peptide O00499
alteration type single base exchange
alteration region CDS
DNA changes c.451G>A
cDNA.796G>A
g.38364G>A
AA changes D151N Score: 23 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 151
frameshift no
known variant Reference ID: rs121909274
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs8298 (pathogenic for Myopathy, centronuclear, 2) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM074066)

known disease mutation at this position, please check HGMD for details (HGMD ID CM074066)
known disease mutation at this position, please check HGMD for details (HGMD ID CM074066)
regulatory features DNase1, Open Chromatin, DNase1 Hypersensitive Site
Gene Associated, Regulatory Feature, Gene associated regulatory feature
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)4.1191
4.9891
(flanking)-0.2760.976
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased38362wt: 0.8355 / mu: 0.9079 (marginal change - not scored)wt: GGACTACGACAGTGC
mu: GGACTACAACAGTGC		 ACTA|cgac
Donor gained383640.85mu: ACTACAACAGTGCCC TACA|acag
distance from splice site 40
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      151IAKRGRKLVDYDSARHHYESLQTA
mutated  all conserved    151IAKRGRKLVDYNSARHHYESLQT
Ptroglodytes  all identical  ENSPTRG00000012423  151IAKRGRKLVDYDSARHHYESLQT
Mmulatta  no homologue    
Fcatus  all identical  ENSFCAG00000000531  123DYDSARHHYESLQT
Mmusculus  all identical  ENSMUSG00000024381  151IAKRGRKLVDYDSARHHYESLQT
Ggallus  all identical  ENSGALG00000011541  151IAKRGRKLVDYDSARHHFEALQT
Trubripes  all identical  ENSTRUG00000013580  152IAKRDRKLVDYDSARHNYAITHK
Drerio  all identical  ENSDARG00000042114  152IAKRDRKLVDFDSARHNFAAVNK
Dmelanogaster  all identical  FBgn0027356  146VEKRNRKLIDYDGQRHSFQNLQANA
Celegans  all identical  F58G6.1  142IEKRGRKLVDYDSAKNSFNSVKA
Xtropicalis  all identical  ENSXETG00000000473  122DYDSARHHFESLQN
protein features
start (aa)end (aa)featuredetails 
29276DOMAINBAR.lost
133161HELIXlost
193267COILEDPotential.might get lost (downstream of altered splice site)
205268HELIXmight get lost (downstream of altered splice site)
296296MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
298298MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
303303MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
307307MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
323323MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
331331MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
378421REGIONClathrin-binding.might get lost (downstream of altered splice site)
474474CONFLICTA -> P (in Ref. 2; AAB63263).might get lost (downstream of altered splice site)
481481CONFLICTA -> S (in Ref. 10; AAC24126/AAC23750/ AAC23751).might get lost (downstream of altered splice site)
510510CONFLICTS -> C (in Ref. 7; AAC23440/AAC23441).might get lost (downstream of altered splice site)
520592DOMAINSH3.might get lost (downstream of altered splice site)
523527STRANDmight get lost (downstream of altered splice site)
528528CONFLICTQ -> H (in Ref. 7; AAC23440/AAC23441).might get lost (downstream of altered splice site)
535537STRANDmight get lost (downstream of altered splice site)
546549STRANDmight get lost (downstream of altered splice site)
555557HELIXmight get lost (downstream of altered splice site)
562567STRANDmight get lost (downstream of altered splice site)
568572HELIXmight get lost (downstream of altered splice site)
573579HELIXmight get lost (downstream of altered splice site)
576576CONFLICTE -> K (in Ref. 7; AAC23440/AAC23441).might get lost (downstream of altered splice site)
582585STRANDmight get lost (downstream of altered splice site)
586588HELIXmight get lost (downstream of altered splice site)
589591STRANDmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1365 / 1365
position (AA) of stopcodon in wt / mu AA sequence 455 / 455
position of stopcodon in wt / mu cDNA 1710 / 1710
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 346 / 346
chromosome 2
strand -1
last intron/exon boundary 1603
theoretical NMD boundary in CDS 1207
length of CDS 1365
coding sequence (CDS) position 451
cDNA position
(for ins/del: last normal base / first normal base)		 796
gDNA position
(for ins/del: last normal base / first normal base)		 38364
chromosomal position
(for ins/del: last normal base / first normal base)		 127826568
original gDNA sequence snippet GGCGCAAGCTGGTGGACTACGACAGTGCCCGGCACCACTAC
altered gDNA sequence snippet GGCGCAAGCTGGTGGACTACAACAGTGCCCGGCACCACTAC
original cDNA sequence snippet GGCGCAAGCTGGTGGACTACGACAGTGCCCGGCACCACTAC
altered cDNA sequence snippet GGCGCAAGCTGGTGGACTACAACAGTGCCCGGCACCACTAC
wildtype AA sequence MAEMGSKGVT AGKIASNVQK KLTRAQEKVL QKLGKADETK DEQFEQCVQN FNKQLTEGTR
LQKDLRTYLA SVKAMHEASK KLNECLQEVY EPDWPGRDEA NKIAENNDLL WMDYHQKLVD
QALLTMDTYL GQFPDIKSRI AKRGRKLVDY DSARHHYESL QTAKKKDEAK IAKAEEELIK
AQKVFEEMNV DLQEELPSLW NSRVGFYVNT FQSIAGLEEN FHKEMSKLNQ NLNDVLVGLE
KQHGSNTFTV KAQPRKKSKL FSRLRRKKNS DNAPAKGNKS PSPPDGSPAA TPEIRVNHEP
EPAGGATPGA TLPKSPSQPA EASEVAGGTQ PAAGAQEPGE TAASEAASSS LPAVVVETFP
ATVNGTVEGG SGAGRLDLPP GFMFKVQAQH DYTATDTDEL QLKAGDVVLV IPFQNPEEQD
EGWLMGVKES DWNQHKELEK CRGVFPENFT ERVP*
mutated AA sequence MAEMGSKGVT AGKIASNVQK KLTRAQEKVL QKLGKADETK DEQFEQCVQN FNKQLTEGTR
LQKDLRTYLA SVKAMHEASK KLNECLQEVY EPDWPGRDEA NKIAENNDLL WMDYHQKLVD
QALLTMDTYL GQFPDIKSRI AKRGRKLVDY NSARHHYESL QTAKKKDEAK IAKAEEELIK
AQKVFEEMNV DLQEELPSLW NSRVGFYVNT FQSIAGLEEN FHKEMSKLNQ NLNDVLVGLE
KQHGSNTFTV KAQPRKKSKL FSRLRRKKNS DNAPAKGNKS PSPPDGSPAA TPEIRVNHEP
EPAGGATPGA TLPKSPSQPA EASEVAGGTQ PAAGAQEPGE TAASEAASSS LPAVVVETFP
ATVNGTVEGG SGAGRLDLPP GFMFKVQAQH DYTATDTDEL QLKAGDVVLV IPFQNPEEQD
EGWLMGVKES DWNQHKELEK CRGVFPENFT ERVP*
speed 0.51 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: 0.999999999971452 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM074066)
  • known disease mutation: rs8298 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr2:127826568C>TN/A show variant in all transcripts   IGV
HGNC symbol BIN1
Ensembl transcript ID ENST00000409400
Genbank transcript ID NM_139350
UniProt peptide O00499
alteration type single base exchange
alteration region CDS
DNA changes c.451G>A
cDNA.786G>A
g.38364G>A
AA changes D151N Score: 23 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 151
frameshift no
known variant Reference ID: rs121909274
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs8298 (pathogenic for Myopathy, centronuclear, 2) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM074066)

known disease mutation at this position, please check HGMD for details (HGMD ID CM074066)
known disease mutation at this position, please check HGMD for details (HGMD ID CM074066)
regulatory features DNase1, Open Chromatin, DNase1 Hypersensitive Site
Gene Associated, Regulatory Feature, Gene associated regulatory feature
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)4.1191
4.9891
(flanking)-0.2760.976
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased38362wt: 0.8355 / mu: 0.9079 (marginal change - not scored)wt: GGACTACGACAGTGC
mu: GGACTACAACAGTGC		 ACTA|cgac
Donor gained383640.85mu: ACTACAACAGTGCCC TACA|acag
distance from splice site 40
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      151IAKRGRKLVDYDSARHHYESLQTA
mutated  all conserved    151IAKRGRKLVDYNSARHHYESLQT
Ptroglodytes  all identical  ENSPTRG00000012423  151IAKRGRKLVDYDSARHHYESLQT
Mmulatta  no homologue    
Fcatus  all identical  ENSFCAG00000000531  123DYDSARHHYESLQT
Mmusculus  all identical  ENSMUSG00000024381  151IAKRGRKLVDYDSARHHYESLQT
Ggallus  all identical  ENSGALG00000011541  151IAKRGRKLVDYDSARHHFEALQT
Trubripes  all identical  ENSTRUG00000013580  152IAKRDRKLVDYDSARHNYAITHK
Drerio  all identical  ENSDARG00000042114  152IAKRDRKLVDFDSARHNFAAVNK
Dmelanogaster  all identical  FBgn0027356  146VEKRNRKLIDYDGQRHSFQNLQANA
Celegans  all identical  F58G6.1  142IEKRGRKLVDYDSAKNSFNSVKA
Xtropicalis  all identical  ENSXETG00000000473  122DYDSARHHFESLQN
protein features
start (aa)end (aa)featuredetails 
29276DOMAINBAR.lost
133161HELIXlost
193267COILEDPotential.might get lost (downstream of altered splice site)
205268HELIXmight get lost (downstream of altered splice site)
296296MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
298298MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
303303MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
307307MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
323323MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
331331MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
378421REGIONClathrin-binding.might get lost (downstream of altered splice site)
474474CONFLICTA -> P (in Ref. 2; AAB63263).might get lost (downstream of altered splice site)
481481CONFLICTA -> S (in Ref. 10; AAC24126/AAC23750/ AAC23751).might get lost (downstream of altered splice site)
510510CONFLICTS -> C (in Ref. 7; AAC23440/AAC23441).might get lost (downstream of altered splice site)
520592DOMAINSH3.might get lost (downstream of altered splice site)
523527STRANDmight get lost (downstream of altered splice site)
528528CONFLICTQ -> H (in Ref. 7; AAC23440/AAC23441).might get lost (downstream of altered splice site)
535537STRANDmight get lost (downstream of altered splice site)
546549STRANDmight get lost (downstream of altered splice site)
555557HELIXmight get lost (downstream of altered splice site)
562567STRANDmight get lost (downstream of altered splice site)
568572HELIXmight get lost (downstream of altered splice site)
573579HELIXmight get lost (downstream of altered splice site)
576576CONFLICTE -> K (in Ref. 7; AAC23440/AAC23441).might get lost (downstream of altered splice site)
582585STRANDmight get lost (downstream of altered splice site)
586588HELIXmight get lost (downstream of altered splice site)
589591STRANDmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1320 / 1320
position (AA) of stopcodon in wt / mu AA sequence 440 / 440
position of stopcodon in wt / mu cDNA 1655 / 1655
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 336 / 336
chromosome 2
strand -1
last intron/exon boundary 1548
theoretical NMD boundary in CDS 1162
length of CDS 1320
coding sequence (CDS) position 451
cDNA position
(for ins/del: last normal base / first normal base)		 786
gDNA position
(for ins/del: last normal base / first normal base)		 38364
chromosomal position
(for ins/del: last normal base / first normal base)		 127826568
original gDNA sequence snippet GGCGCAAGCTGGTGGACTACGACAGTGCCCGGCACCACTAC
altered gDNA sequence snippet GGCGCAAGCTGGTGGACTACAACAGTGCCCGGCACCACTAC
original cDNA sequence snippet GGCGCAAGCTGGTGGACTACGACAGTGCCCGGCACCACTAC
altered cDNA sequence snippet GGCGCAAGCTGGTGGACTACAACAGTGCCCGGCACCACTAC
wildtype AA sequence MAEMGSKGVT AGKIASNVQK KLTRAQEKVL QKLGKADETK DEQFEQCVQN FNKQLTEGTR
LQKDLRTYLA SVKAMHEASK KLNECLQEVY EPDWPGRDEA NKIAENNDLL WMDYHQKLVD
QALLTMDTYL GQFPDIKSRI AKRGRKLVDY DSARHHYESL QTAKKKDEAK IAKAEEELIK
AQKVFEEMNV DLQEELPSLW NSRVGFYVNT FQSIAGLEEN FHKEMSKLNQ NLNDVLVGLE
KQHGSNTFTV KAQPSDNAPA KGNKSPSPPD GSPAATPEIR VNHEPEPAGG ATPGATLPKS
PSQPAEASEV AGGTQPAAGA QEPGETAASE AASSSLPAVV VETFPATVNG TVEGGSGAGR
LDLPPGFMFK VQAQHDYTAT DTDELQLKAG DVVLVIPFQN PEEQDEGWLM GVKESDWNQH
KELEKCRGVF PENFTERVP*
mutated AA sequence MAEMGSKGVT AGKIASNVQK KLTRAQEKVL QKLGKADETK DEQFEQCVQN FNKQLTEGTR
LQKDLRTYLA SVKAMHEASK KLNECLQEVY EPDWPGRDEA NKIAENNDLL WMDYHQKLVD
QALLTMDTYL GQFPDIKSRI AKRGRKLVDY NSARHHYESL QTAKKKDEAK IAKAEEELIK
AQKVFEEMNV DLQEELPSLW NSRVGFYVNT FQSIAGLEEN FHKEMSKLNQ NLNDVLVGLE
KQHGSNTFTV KAQPSDNAPA KGNKSPSPPD GSPAATPEIR VNHEPEPAGG ATPGATLPKS
PSQPAEASEV AGGTQPAAGA QEPGETAASE AASSSLPAVV VETFPATVNG TVEGGSGAGR
LDLPPGFMFK VQAQHDYTAT DTDELQLKAG DVVLVIPFQN PEEQDEGWLM GVKESDWNQH
KELEKCRGVF PENFTERVP*
speed 0.90 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