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 10 transcript(s)...
Querying Taster for transcript #1: ENST00000379825
Querying Taster for transcript #2: ENST00000397172
Querying Taster for transcript #3: ENST00000379817
Querying Taster for transcript #4: ENST00000379819
Querying Taster for transcript #5: ENST00000468275
Querying Taster for transcript #6: ENST00000463596
Querying Taster for transcript #7: ENST00000476858
Querying Taster for transcript #8: ENST00000379813
Querying Taster for transcript #9: ENST00000309615
Querying Taster for transcript #10: ENST00000436040
MT speed 6.16 s - this script 6.40676 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
APTXdisease_causing_automatic0.999984465219685simple_aae0C187Wsingle base exchangers121908132show file
APTXdisease_causing_automatic0.999999999999983simple_aae0V277Gsingle base exchangers121908132show file
APTXdisease_causing_automatic0.999999999999983simple_aae0V205Gsingle base exchangers121908132show file
APTXdisease_causing_automatic0.999999999999983simple_aae0V263Gsingle base exchangers121908132show file
APTXdisease_causing_automatic0.999999999999983simple_aae0V277Gsingle base exchangers121908132show file
APTXdisease_causing_automatic0.999999999999983simple_aae0V263Gsingle base exchangers121908132show file
APTXdisease_causing_automatic0.999999999999983simple_aae0V263Gsingle base exchangers121908132show file
APTXdisease_causing_automatic0.999999999999983simple_aae0V223Gsingle base exchangers121908132show file
APTXdisease_causing_automatic0.999999999999983simple_aae0V263Gsingle base exchangers121908132show file
APTXdisease_causing_automatic0.999999999999983simple_aae0V277Gsingle base exchangers121908132show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999984465219685 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM012897)
  • known disease mutation: rs4428 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr9:32974542A>CN/A show variant in all transcripts   IGV
HGNC symbol APTX
Ensembl transcript ID ENST00000436040
Genbank transcript ID N/A
UniProt peptide Q7Z2E3
alteration type single base exchange
alteration region CDS
DNA changes c.561T>G
cDNA.758T>G
g.50625T>G
AA changes C187W Score: 215 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 187
frameshift no
known variant Reference ID: rs121908132
Allele 'C' was neither found in ExAC nor 1000G.
known disease mutation: rs4428 (pathogenic for Ataxia-oculomotor apraxia type 1) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM012897)

known disease mutation at this position, please check HGMD for details (HGMD ID CM012897)
known disease mutation at this position, please check HGMD for details (HGMD ID CM012897)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.1410.981
4.4511
(flanking)5.3721
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 18
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      187QDPKMQPCTSSCDQPGF*
mutated  not conserved    187QPCTSSWDQPGF
Ptroglodytes  no alignment  ENSPTRG00000020850  n/a
Mmulatta  no alignment  ENSMMUG00000007724  n/a
Fcatus  no alignment  ENSFCAG00000008728  n/a
Mmusculus  no alignment  ENSMUSG00000028411  n/a
Ggallus  no alignment  ENSGALG00000001954  n/a
Trubripes  no alignment  ENSTRUG00000009794  n/a
Drerio  no alignment  ENSDARG00000027143  n/a
Dmelanogaster  no alignment  FBgn0038704  n/a
Celegans  no homologue    
Xtropicalis  no alignment  ENSXETG00000024143  n/a
protein features
start (aa)end (aa)featuredetails 
182287DOMAINHIT.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 579 / 579
position (AA) of stopcodon in wt / mu AA sequence 193 / 193
position of stopcodon in wt / mu cDNA 776 / 776
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 198 / 198
chromosome 9
strand -1
last intron/exon boundary 845
theoretical NMD boundary in CDS 597
length of CDS 579
coding sequence (CDS) position 561
cDNA position
(for ins/del: last normal base / first normal base)		 758
gDNA position
(for ins/del: last normal base / first normal base)		 50625
chromosomal position
(for ins/del: last normal base / first normal base)		 32974542
original gDNA sequence snippet TAGCCATGTACATCTTCATGTGATCAGCCAGGATTTTGATT
altered gDNA sequence snippet TAGCCATGTACATCTTCATGGGATCAGCCAGGATTTTGATT
original cDNA sequence snippet CAGCCATGTACATCTTCATGTGATCAGCCAGGATTTTGATT
altered cDNA sequence snippet CAGCCATGTACATCTTCATGGGATCAGCCAGGATTTTGATT
wildtype AA sequence MMRVCWLVRQ DSRHQRIRLP HLEAVVIGRG PETKITDKKC SRQQVQLKAE CNKGYVKVKQ
VGVNPTSIDS VVIGKDQEVK LQPGQVLHMV NELYPYIVEF EEEAKNPGLE THRKRKRSGN
SDSIERDAAQ EAEAGTGLEP GSNSGQCSVP LKKGKDAPIK KESLGHWSQG LKISMQDPKM
QPCTSSCDQP GF*
mutated AA sequence MMRVCWLVRQ DSRHQRIRLP HLEAVVIGRG PETKITDKKC SRQQVQLKAE CNKGYVKVKQ
VGVNPTSIDS VVIGKDQEVK LQPGQVLHMV NELYPYIVEF EEEAKNPGLE THRKRKRSGN
SDSIERDAAQ EAEAGTGLEP GSNSGQCSVP LKKGKDAPIK KESLGHWSQG LKISMQDPKM
QPCTSSWDQP GF*
speed 1.00 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: 0.999999999999983 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM012897)
  • known disease mutation: rs4428 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr9:32974542A>CN/A show variant in all transcripts   IGV
HGNC symbol APTX
Ensembl transcript ID ENST00000379825
Genbank transcript ID NM_001195251
UniProt peptide Q7Z2E3
alteration type single base exchange
alteration region CDS
DNA changes c.830T>G
cDNA.854T>G
g.50625T>G
AA changes V277G Score: 109 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 277
frameshift no
known variant Reference ID: rs121908132
Allele 'C' was neither found in ExAC nor 1000G.
known disease mutation: rs4428 (pathogenic for Ataxia-oculomotor apraxia type 1) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM012897)

known disease mutation at this position, please check HGMD for details (HGMD ID CM012897)
known disease mutation at this position, please check HGMD for details (HGMD ID CM012897)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.1410.981
4.4511
(flanking)5.3721
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 18
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      277AIPSMSHVHLHVISQDFDSPCLKN
mutated  not conserved    277AIPSMSHVHLHGISQDFDSPCLK
Ptroglodytes  all identical  ENSPTRG00000020850  263AIPSMSHVHLHVISQDFDSPCLK
Mmulatta  all identical  ENSMMUG00000007724  291AIPSMSHVHLHVISQDFDSPCLK
Fcatus  all identical  ENSFCAG00000008728  277AIPSMSHVHLHVISQDFDSPCLK
Mmusculus  all identical  ENSMUSG00000028411  263AIPSMSHVHLHVISQDFDSPCLK
Ggallus  all identical  ENSGALG00000001954  287AIPSMSQLHLHVISQDFDSPALK
Trubripes  all identical  ENSTRUG00000009794  277AIPSMSHVHLHVISQDFDSPCLK
Drerio  all identical  ENSDARG00000027143  245AIPSMSHVHLHVISQDFDSPCLK
Dmelanogaster  all identical  FBgn0038704  99AEPSMQRLHLHVISKDFVSTSLK
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000024143  268AIPSMSHVHLHVISQDFDSPCLK
protein features
start (aa)end (aa)featuredetails 
182287DOMAINHIT.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 921 / 921
position (AA) of stopcodon in wt / mu AA sequence 307 / 307
position of stopcodon in wt / mu cDNA 945 / 945
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 25 / 25
chromosome 9
strand -1
last intron/exon boundary 941
theoretical NMD boundary in CDS 866
length of CDS 921
coding sequence (CDS) position 830
cDNA position
(for ins/del: last normal base / first normal base)		 854
gDNA position
(for ins/del: last normal base / first normal base)		 50625
chromosomal position
(for ins/del: last normal base / first normal base)		 32974542
original gDNA sequence snippet TAGCCATGTACATCTTCATGTGATCAGCCAGGATTTTGATT
altered gDNA sequence snippet TAGCCATGTACATCTTCATGGGATCAGCCAGGATTTTGATT
original cDNA sequence snippet GAGCCATGTACATCTTCATGTGATCAGCCAGGATTTTGATT
altered cDNA sequence snippet GAGCCATGTACATCTTCATGGGATCAGCCAGGATTTTGATT
wildtype AA sequence MSNVNLSVSD FWRVMMRVCW LVRQDSRHQR IRLPHLEAVV IGRGPETKIT DKKCSRQQVQ
LKAECNKGYV KVKQVGVNPT SIDSVVIGKD QEVKLQPGQV LHMVNELYPY IVEFEEEAKN
PGLETHRKRK RSGNSDSIER DAAQEAEAGT GLEPGSNSGQ CSVPLKKGKD APIKKESLGH
WSQGLKISMQ DPKMQVYKDE QVVVIKDKYP KARYHWLVLP WTSISSLKAV AREHLELLKH
MHTVGEKVIV DFAGSSKLRF RLGYHAIPSM SHVHLHVISQ DFDSPCLKNK KHWNSFNTEY
FLESQE*
mutated AA sequence MSNVNLSVSD FWRVMMRVCW LVRQDSRHQR IRLPHLEAVV IGRGPETKIT DKKCSRQQVQ
LKAECNKGYV KVKQVGVNPT SIDSVVIGKD QEVKLQPGQV LHMVNELYPY IVEFEEEAKN
PGLETHRKRK RSGNSDSIER DAAQEAEAGT GLEPGSNSGQ CSVPLKKGKD APIKKESLGH
WSQGLKISMQ DPKMQVYKDE QVVVIKDKYP KARYHWLVLP WTSISSLKAV AREHLELLKH
MHTVGEKVIV DFAGSSKLRF RLGYHAIPSM SHVHLHGISQ DFDSPCLKNK KHWNSFNTEY
FLESQE*
speed 0.13 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: 0.999999999999983 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM012897)
  • known disease mutation: rs4428 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr9:32974542A>CN/A show variant in all transcripts   IGV
HGNC symbol APTX
Ensembl transcript ID ENST00000397172
Genbank transcript ID NM_001195252
UniProt peptide Q7Z2E3
alteration type single base exchange
alteration region CDS
DNA changes c.614T>G
cDNA.617T>G
g.50625T>G
AA changes V205G Score: 109 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 205
frameshift no
known variant Reference ID: rs121908132
Allele 'C' was neither found in ExAC nor 1000G.
known disease mutation: rs4428 (pathogenic for Ataxia-oculomotor apraxia type 1) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM012897)

known disease mutation at this position, please check HGMD for details (HGMD ID CM012897)
known disease mutation at this position, please check HGMD for details (HGMD ID CM012897)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.1410.981
4.4511
(flanking)5.3721
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 18
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      205AIPSMSHVHLHVISQDFDSPCLKN
mutated  not conserved    205AIPSMSHVHLHGISQDFDSPCLK
Ptroglodytes  all identical  ENSPTRG00000020850  263AIPSMSHVHLHVISQDFDSPCLK
Mmulatta  all identical  ENSMMUG00000007724  291AIPSMSHVHLHVISQDFDSPCLK
Fcatus  all identical  ENSFCAG00000008728  277AIPSMSHVHLHVISQDFDSPCLK
Mmusculus  all identical  ENSMUSG00000028411  263AIPSMSHVHLHVISQDFDSPCLK
Ggallus  all identical  ENSGALG00000001954  287AIPSMSQLHLHVISQDFDSPALK
Trubripes  all identical  ENSTRUG00000009794  277AIPSMSHVHLHVISQDFDSPCLK
Drerio  all identical  ENSDARG00000027143  245AIPSMSHVHLHVISQDFDSPCLK
Dmelanogaster  all identical  FBgn0038704  99AEPSMQRLHLHVISKDFVSTSLK
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000024143  268AIPSMSHVHLHVISQDFDSPCLK
protein features
start (aa)end (aa)featuredetails 
182287DOMAINHIT.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 855 / 855
position (AA) of stopcodon in wt / mu AA sequence 285 / 285
position of stopcodon in wt / mu cDNA 858 / 858
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 4 / 4
chromosome 9
strand -1
last intron/exon boundary 704
theoretical NMD boundary in CDS 650
length of CDS 855
coding sequence (CDS) position 614
cDNA position
(for ins/del: last normal base / first normal base)		 617
gDNA position
(for ins/del: last normal base / first normal base)		 50625
chromosomal position
(for ins/del: last normal base / first normal base)		 32974542
original gDNA sequence snippet TAGCCATGTACATCTTCATGTGATCAGCCAGGATTTTGATT
altered gDNA sequence snippet TAGCCATGTACATCTTCATGGGATCAGCCAGGATTTTGATT
original cDNA sequence snippet GAGCCATGTACATCTTCATGTGATCAGCCAGGATTTTGATT
altered cDNA sequence snippet GAGCCATGTACATCTTCATGGGATCAGCCAGGATTTTGATT
wildtype AA sequence MSNVNLSVSD FWRVMMRVCW LVRQDSRHQR IRLPHLEAVV IGRGPETKIT DKKCSRQQVQ
LKAECNKGYV KVKQVGVNPT SIDSVVIGKD QEVKLQPGQV LHMESLGHWS QGLKISMQDP
KMQVYKDEQV VVIKDKYPKA RYHWLVLPWT SISSLKAVAR EHLELLKHMH TVGEKVIVDF
AGSSKLRFRL GYHAIPSMSH VHLHVISQDF DSPCLKNKKH WNSFNTEYFL ESQAVIEMVQ
EAGRVTVRDG MPELLKLPLR CHECQQLLPS IPQLKEHLRK HWTQ*
mutated AA sequence MSNVNLSVSD FWRVMMRVCW LVRQDSRHQR IRLPHLEAVV IGRGPETKIT DKKCSRQQVQ
LKAECNKGYV KVKQVGVNPT SIDSVVIGKD QEVKLQPGQV LHMESLGHWS QGLKISMQDP
KMQVYKDEQV VVIKDKYPKA RYHWLVLPWT SISSLKAVAR EHLELLKHMH TVGEKVIVDF
AGSSKLRFRL GYHAIPSMSH VHLHGISQDF DSPCLKNKKH WNSFNTEYFL ESQAVIEMVQ
EAGRVTVRDG MPELLKLPLR CHECQQLLPS IPQLKEHLRK HWTQ*
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: 0.999999999999983 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM012897)
  • known disease mutation: rs4428 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr9:32974542A>CN/A show variant in all transcripts   IGV
HGNC symbol APTX
Ensembl transcript ID ENST00000379817
Genbank transcript ID NM_001195248
UniProt peptide Q7Z2E3
alteration type single base exchange
alteration region CDS
DNA changes c.788T>G
cDNA.985T>G
g.50625T>G
AA changes V263G Score: 109 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 263
frameshift no
known variant Reference ID: rs121908132
Allele 'C' was neither found in ExAC nor 1000G.
known disease mutation: rs4428 (pathogenic for Ataxia-oculomotor apraxia type 1) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM012897)

known disease mutation at this position, please check HGMD for details (HGMD ID CM012897)
known disease mutation at this position, please check HGMD for details (HGMD ID CM012897)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.1410.981
4.4511
(flanking)5.3721
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 18
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      263AIPSMSHVHLHVISQDFDSPCLKN
mutated  not conserved    263AIPSMSHVHLHGISQDFDSPCLK
Ptroglodytes  all identical  ENSPTRG00000020850  263AIPSMSHVHLHVISQDFDSPCLK
Mmulatta  all identical  ENSMMUG00000007724  291AIPSMSHVHLHVISQDFDSPCLK
Fcatus  all identical  ENSFCAG00000008728  277AIPSMSHVHLHVISQDFDSPCLK
Mmusculus  all identical  ENSMUSG00000028411  263AIPSMSHVHLHVISQDFDSPCLK
Ggallus  all identical  ENSGALG00000001954  287AIPSMSQLHLHVISQDFDSPALK
Trubripes  all identical  ENSTRUG00000009794  277AIPSMSHVHLHVISQDFDSPCLK
Drerio  all identical  ENSDARG00000027143  245AIPSMSHVHLHVISQDFDSPCLK
Dmelanogaster  all identical  FBgn0038704  99AEPSMQRLHLHVISKDFVSTSLK
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000024143  268AIPSMSHVHLHVISQDFDSPCLK
protein features
start (aa)end (aa)featuredetails 
182287DOMAINHIT.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1029 / 1029
position (AA) of stopcodon in wt / mu AA sequence 343 / 343
position of stopcodon in wt / mu cDNA 1226 / 1226
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 198 / 198
chromosome 9
strand -1
last intron/exon boundary 1072
theoretical NMD boundary in CDS 824
length of CDS 1029
coding sequence (CDS) position 788
cDNA position
(for ins/del: last normal base / first normal base)		 985
gDNA position
(for ins/del: last normal base / first normal base)		 50625
chromosomal position
(for ins/del: last normal base / first normal base)		 32974542
original gDNA sequence snippet TAGCCATGTACATCTTCATGTGATCAGCCAGGATTTTGATT
altered gDNA sequence snippet TAGCCATGTACATCTTCATGGGATCAGCCAGGATTTTGATT
original cDNA sequence snippet GAGCCATGTACATCTTCATGTGATCAGCCAGGATTTTGATT
altered cDNA sequence snippet GAGCCATGTACATCTTCATGGGATCAGCCAGGATTTTGATT
wildtype AA sequence MMRVCWLVRQ DSRHQRIRLP HLEAVVIGRG PETKITDKKC SRQQVQLKAE CNKGYVKVKQ
VGVNPTSIDS VVIGKDQEVK LQPGQVLHMV NELYPYIVEF EEEAKNPGLE THRKRKRSGN
SDSIERDAAQ EAEAGTGLEP GSNSGQCSVP LKKGKDAPIK KESLGHWSQG LKISMQDPKM
QVYKDEQVVV IKDKYPKARY HWLVLPWTSI SSLKAVAREH LELLKHMHTV GEKVIVDFAG
SSKLRFRLGY HAIPSMSHVH LHVISQDFDS PCLKNKKHWN SFNTEYFLES QAVIEMVQEA
GRVTVRDGMP ELLKLPLRCH ECQQLLPSIP QLKEHLRKHW TQ*
mutated AA sequence MMRVCWLVRQ DSRHQRIRLP HLEAVVIGRG PETKITDKKC SRQQVQLKAE CNKGYVKVKQ
VGVNPTSIDS VVIGKDQEVK LQPGQVLHMV NELYPYIVEF EEEAKNPGLE THRKRKRSGN
SDSIERDAAQ EAEAGTGLEP GSNSGQCSVP LKKGKDAPIK KESLGHWSQG LKISMQDPKM
QVYKDEQVVV IKDKYPKARY HWLVLPWTSI SSLKAVAREH LELLKHMHTV GEKVIVDFAG
SSKLRFRLGY HAIPSMSHVH LHGISQDFDS PCLKNKKHWN SFNTEYFLES QAVIEMVQEA
GRVTVRDGMP ELLKLPLRCH ECQQLLPSIP QLKEHLRKHW TQ*
speed 0.73 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: 0.999999999999983 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM012897)
  • known disease mutation: rs4428 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr9:32974542A>CN/A show variant in all transcripts   IGV
HGNC symbol APTX
Ensembl transcript ID ENST00000379819
Genbank transcript ID N/A
UniProt peptide Q7Z2E3
alteration type single base exchange
alteration region CDS
DNA changes c.830T>G
cDNA.830T>G
g.50625T>G
AA changes V277G Score: 109 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 277
frameshift no
known variant Reference ID: rs121908132
Allele 'C' was neither found in ExAC nor 1000G.
known disease mutation: rs4428 (pathogenic for Ataxia-oculomotor apraxia type 1) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM012897)

known disease mutation at this position, please check HGMD for details (HGMD ID CM012897)
known disease mutation at this position, please check HGMD for details (HGMD ID CM012897)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.1410.981
4.4511
(flanking)5.3721
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 18
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      277AIPSMSHVHLHVISQDFDSPCLKN
mutated  not conserved    277AIPSMSHVHLHGISQDFDSPCLK
Ptroglodytes  all identical  ENSPTRG00000020850  263AIPSMSHVHLHVISQDFDSPCLK
Mmulatta  all identical  ENSMMUG00000007724  291AIPSMSHVHLHVISQDFDSPCLK
Fcatus  all identical  ENSFCAG00000008728  277AIPSMSHVHLHVISQDFDSPCLK
Mmusculus  all identical  ENSMUSG00000028411  263AIPSMSHVHLHVISQDFDSPCLK
Ggallus  all identical  ENSGALG00000001954  287AIPSMSQLHLHVISQDFDSPALK
Trubripes  all identical  ENSTRUG00000009794  277AIPSMSHVHLHVISQDFDSPCLK
Drerio  all identical  ENSDARG00000027143  245AIPSMSHVHLHVISQDFDSPCLK
Dmelanogaster  all identical  FBgn0038704  99AEPSMQRLHLHVISKDFVSTSLK
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000024143  268AIPSMSHVHLHVISQDFDSPCLK
protein features
start (aa)end (aa)featuredetails 
182287DOMAINHIT.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1071 / 1071
position (AA) of stopcodon in wt / mu AA sequence 357 / 357
position of stopcodon in wt / mu cDNA 1071 / 1071
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 1 / 1
chromosome 9
strand -1
last intron/exon boundary 917
theoretical NMD boundary in CDS 866
length of CDS 1071
coding sequence (CDS) position 830
cDNA position
(for ins/del: last normal base / first normal base)		 830
gDNA position
(for ins/del: last normal base / first normal base)		 50625
chromosomal position
(for ins/del: last normal base / first normal base)		 32974542
original gDNA sequence snippet TAGCCATGTACATCTTCATGTGATCAGCCAGGATTTTGATT
altered gDNA sequence snippet TAGCCATGTACATCTTCATGGGATCAGCCAGGATTTTGATT
original cDNA sequence snippet GAGCCATGTACATCTTCATGTGATCAGCCAGGATTTTGATT
altered cDNA sequence snippet GAGCCATGTACATCTTCATGGGATCAGCCAGGATTTTGATT
wildtype AA sequence MSNVNLSVSD FWRVMMRVCW LVRQDSRHQR IRLPHLEAVV IGRGPETKIT DKKCSRQQVQ
LKAECNKGYV KVKQVGVNPT SIDSVVIGKD QEVKLQPGQV LHMVNELYPY IVEFEEEAKN
PGLETHRKRK RSGNSDSIER DAAQEAEAGT GLEPGSNSGQ CSVPLKKGKD APIKKESLGH
WSQGLKISMQ DPKMQVYKDE QVVVIKDKYP KARYHWLVLP WTSISSLKAV AREHLELLKH
MHTVGEKVIV DFAGSSKLRF RLGYHAIPSM SHVHLHVISQ DFDSPCLKNK KHWNSFNTEY
FLESQAVIEM VQEAGRVTVR DGMPELLKLP LRCHECQQLL PSIPQLKEHL RKHWTQ*
mutated AA sequence MSNVNLSVSD FWRVMMRVCW LVRQDSRHQR IRLPHLEAVV IGRGPETKIT DKKCSRQQVQ
LKAECNKGYV KVKQVGVNPT SIDSVVIGKD QEVKLQPGQV LHMVNELYPY IVEFEEEAKN
PGLETHRKRK RSGNSDSIER DAAQEAEAGT GLEPGSNSGQ CSVPLKKGKD APIKKESLGH
WSQGLKISMQ DPKMQVYKDE QVVVIKDKYP KARYHWLVLP WTSISSLKAV AREHLELLKH
MHTVGEKVIV DFAGSSKLRF RLGYHAIPSM SHVHLHGISQ DFDSPCLKNK KHWNSFNTEY
FLESQAVIEM VQEAGRVTVR DGMPELLKLP LRCHECQQLL PSIPQLKEHL RKHWTQ*
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: 0.999999999999983 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM012897)
  • known disease mutation: rs4428 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr9:32974542A>CN/A show variant in all transcripts   IGV
HGNC symbol APTX
Ensembl transcript ID ENST00000468275
Genbank transcript ID N/A
UniProt peptide Q7Z2E3
alteration type single base exchange
alteration region CDS
DNA changes c.788T>G
cDNA.881T>G
g.50625T>G
AA changes V263G Score: 109 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 263
frameshift no
known variant Reference ID: rs121908132
Allele 'C' was neither found in ExAC nor 1000G.
known disease mutation: rs4428 (pathogenic for Ataxia-oculomotor apraxia type 1) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM012897)

known disease mutation at this position, please check HGMD for details (HGMD ID CM012897)
known disease mutation at this position, please check HGMD for details (HGMD ID CM012897)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.1410.981
4.4511
(flanking)5.3721
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 18
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      263AIPSMSHVHLHVISQDFDSPCLKN
mutated  not conserved    263AIPSMSHVHLHGISQDFDSPCLK
Ptroglodytes  all identical  ENSPTRG00000020850  263AIPSMSHVHLHVISQDFDSPCLK
Mmulatta  all identical  ENSMMUG00000007724  291AIPSMSHVHLHVISQDFDSPCLK
Fcatus  all identical  ENSFCAG00000008728  277AIPSMSHVHLHVISQDFDSPCLK
Mmusculus  all identical  ENSMUSG00000028411  263AIPSMSHVHLHVISQDFDSPCLK
Ggallus  all identical  ENSGALG00000001954  287AIPSMSQLHLHVISQDFDSPALK
Trubripes  all identical  ENSTRUG00000009794  277AIPSMSHVHLHVISQDFDSPCLK
Drerio  all identical  ENSDARG00000027143  245AIPSMSHVHLHVISQDFDSPCLK
Dmelanogaster  all identical  FBgn0038704  99AEPSMQRLHLHVISKDFVSTSLK
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000024143  268AIPSMSHVHLHVISQDFDSPCLK
protein features
start (aa)end (aa)featuredetails 
182287DOMAINHIT.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1029 / 1029
position (AA) of stopcodon in wt / mu AA sequence 343 / 343
position of stopcodon in wt / mu cDNA 1122 / 1122
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 94 / 94
chromosome 9
strand -1
last intron/exon boundary 968
theoretical NMD boundary in CDS 824
length of CDS 1029
coding sequence (CDS) position 788
cDNA position
(for ins/del: last normal base / first normal base)		 881
gDNA position
(for ins/del: last normal base / first normal base)		 50625
chromosomal position
(for ins/del: last normal base / first normal base)		 32974542
original gDNA sequence snippet TAGCCATGTACATCTTCATGTGATCAGCCAGGATTTTGATT
altered gDNA sequence snippet TAGCCATGTACATCTTCATGGGATCAGCCAGGATTTTGATT
original cDNA sequence snippet GAGCCATGTACATCTTCATGTGATCAGCCAGGATTTTGATT
altered cDNA sequence snippet GAGCCATGTACATCTTCATGGGATCAGCCAGGATTTTGATT
wildtype AA sequence MMRVCWLVRQ DSRHQRIRLP HLEAVVIGRG PETKITDKKC SRQQVQLKAE CNKGYVKVKQ
VGVNPTSIDS VVIGKDQEVK LQPGQVLHMV NELYPYIVEF EEEAKNPGLE THRKRKRSGN
SDSIERDAAQ EAEAGTGLEP GSNSGQCSVP LKKGKDAPIK KESLGHWSQG LKISMQDPKM
QVYKDEQVVV IKDKYPKARY HWLVLPWTSI SSLKAVAREH LELLKHMHTV GEKVIVDFAG
SSKLRFRLGY HAIPSMSHVH LHVISQDFDS PCLKNKKHWN SFNTEYFLES QAVIEMVQEA
GRVTVRDGMP ELLKLPLRCH ECQQLLPSIP QLKEHLRKHW TQ*
mutated AA sequence MMRVCWLVRQ DSRHQRIRLP HLEAVVIGRG PETKITDKKC SRQQVQLKAE CNKGYVKVKQ
VGVNPTSIDS VVIGKDQEVK LQPGQVLHMV NELYPYIVEF EEEAKNPGLE THRKRKRSGN
SDSIERDAAQ EAEAGTGLEP GSNSGQCSVP LKKGKDAPIK KESLGHWSQG LKISMQDPKM
QVYKDEQVVV IKDKYPKARY HWLVLPWTSI SSLKAVAREH LELLKHMHTV GEKVIVDFAG
SSKLRFRLGY HAIPSMSHVH LHGISQDFDS PCLKNKKHWN SFNTEYFLES QAVIEMVQEA
GRVTVRDGMP ELLKLPLRCH ECQQLLPSIP QLKEHLRKHW TQ*
speed 0.12 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: 0.999999999999983 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM012897)
  • known disease mutation: rs4428 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr9:32974542A>CN/A show variant in all transcripts   IGV
HGNC symbol APTX
Ensembl transcript ID ENST00000463596
Genbank transcript ID N/A
UniProt peptide Q7Z2E3
alteration type single base exchange
alteration region CDS
DNA changes c.788T>G
cDNA.982T>G
g.50625T>G
AA changes V263G Score: 109 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 263
frameshift no
known variant Reference ID: rs121908132
Allele 'C' was neither found in ExAC nor 1000G.
known disease mutation: rs4428 (pathogenic for Ataxia-oculomotor apraxia type 1) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM012897)

known disease mutation at this position, please check HGMD for details (HGMD ID CM012897)
known disease mutation at this position, please check HGMD for details (HGMD ID CM012897)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.1410.981
4.4511
(flanking)5.3721
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 18
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      263AIPSMSHVHLHVISQDFDSPCLKN
mutated  not conserved    263AIPSMSHVHLHGISQDFDSPCLK
Ptroglodytes  all identical  ENSPTRG00000020850  263AIPSMSHVHLHVISQDFDSPCLK
Mmulatta  all identical  ENSMMUG00000007724  291AIPSMSHVHLHVISQDFDSPCLK
Fcatus  all identical  ENSFCAG00000008728  277AIPSMSHVHLHVISQDFDSPCLK
Mmusculus  all identical  ENSMUSG00000028411  263AIPSMSHVHLHVISQDFDSPCLK
Ggallus  all identical  ENSGALG00000001954  287AIPSMSQLHLHVISQDFDSPALK
Trubripes  all identical  ENSTRUG00000009794  277AIPSMSHVHLHVISQDFDSPCLK
Drerio  all identical  ENSDARG00000027143  245AIPSMSHVHLHVISQDFDSPCLK
Dmelanogaster  all identical  FBgn0038704  99AEPSMQRLHLHVISKDFVSTSLK
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000024143  268AIPSMSHVHLHVISQDFDSPCLK
protein features
start (aa)end (aa)featuredetails 
182287DOMAINHIT.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1029 / 1029
position (AA) of stopcodon in wt / mu AA sequence 343 / 343
position of stopcodon in wt / mu cDNA 1223 / 1223
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 195 / 195
chromosome 9
strand -1
last intron/exon boundary 1069
theoretical NMD boundary in CDS 824
length of CDS 1029
coding sequence (CDS) position 788
cDNA position
(for ins/del: last normal base / first normal base)		 982
gDNA position
(for ins/del: last normal base / first normal base)		 50625
chromosomal position
(for ins/del: last normal base / first normal base)		 32974542
original gDNA sequence snippet TAGCCATGTACATCTTCATGTGATCAGCCAGGATTTTGATT
altered gDNA sequence snippet TAGCCATGTACATCTTCATGGGATCAGCCAGGATTTTGATT
original cDNA sequence snippet GAGCCATGTACATCTTCATGTGATCAGCCAGGATTTTGATT
altered cDNA sequence snippet GAGCCATGTACATCTTCATGGGATCAGCCAGGATTTTGATT
wildtype AA sequence MMRVCWLVRQ DSRHQRIRLP HLEAVVIGRG PETKITDKKC SRQQVQLKAE CNKGYVKVKQ
VGVNPTSIDS VVIGKDQEVK LQPGQVLHMV NELYPYIVEF EEEAKNPGLE THRKRKRSGN
SDSIERDAAQ EAEAGTGLEP GSNSGQCSVP LKKGKDAPIK KESLGHWSQG LKISMQDPKM
QVYKDEQVVV IKDKYPKARY HWLVLPWTSI SSLKAVAREH LELLKHMHTV GEKVIVDFAG
SSKLRFRLGY HAIPSMSHVH LHVISQDFDS PCLKNKKHWN SFNTEYFLES QAVIEMVQEA
GRVTVRDGMP ELLKLPLRCH ECQQLLPSIP QLKEHLRKHW TQ*
mutated AA sequence MMRVCWLVRQ DSRHQRIRLP HLEAVVIGRG PETKITDKKC SRQQVQLKAE CNKGYVKVKQ
VGVNPTSIDS VVIGKDQEVK LQPGQVLHMV NELYPYIVEF EEEAKNPGLE THRKRKRSGN
SDSIERDAAQ EAEAGTGLEP GSNSGQCSVP LKKGKDAPIK KESLGHWSQG LKISMQDPKM
QVYKDEQVVV IKDKYPKARY HWLVLPWTSI SSLKAVAREH LELLKHMHTV GEKVIVDFAG
SSKLRFRLGY HAIPSMSHVH LHGISQDFDS PCLKNKKHWN SFNTEYFLES QAVIEMVQEA
GRVTVRDGMP ELLKLPLRCH ECQQLLPSIP QLKEHLRKHW TQ*
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: 0.999999999999983 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM012897)
  • known disease mutation: rs4428 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr9:32974542A>CN/A show variant in all transcripts   IGV
HGNC symbol APTX
Ensembl transcript ID ENST00000476858
Genbank transcript ID NM_001195250
UniProt peptide Q7Z2E3
alteration type single base exchange
alteration region CDS
DNA changes c.668T>G
cDNA.705T>G
g.50625T>G
AA changes V223G Score: 109 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 223
frameshift no
known variant Reference ID: rs121908132
Allele 'C' was neither found in ExAC nor 1000G.
known disease mutation: rs4428 (pathogenic for Ataxia-oculomotor apraxia type 1) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM012897)

known disease mutation at this position, please check HGMD for details (HGMD ID CM012897)
known disease mutation at this position, please check HGMD for details (HGMD ID CM012897)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.1410.981
4.4511
(flanking)5.3721
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 18
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      223AIPSMSHVHLHVISQDFDSPCLKN
mutated  not conserved    223AIPSMSHVHLHGISQDFDSPCLK
Ptroglodytes  all identical  ENSPTRG00000020850  263AIPSMSHVHLHVISQDFDSPCLK
Mmulatta  all identical  ENSMMUG00000007724  291AIPSMSHVHLHVISQDFDSPCLK
Fcatus  all identical  ENSFCAG00000008728  277AIPSMSHVHLHVISQDFDSPCLK
Mmusculus  all identical  ENSMUSG00000028411  263AIPSMSHVHLHVISQDFDSPCLK
Ggallus  all identical  ENSGALG00000001954  287AIPSMSQLHLHVISQDFDSPALK
Trubripes  all identical  ENSTRUG00000009794  277AIPSMSHVHLHVISQDFDSPCLK
Drerio  all identical  ENSDARG00000027143  245VHLHVISQDFDSPCLK
Dmelanogaster  all identical  FBgn0038704  99AEPSMQRLHLHVISKDFVSTSLK
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000024143  268AIPSMSHVHLHVISQDFDSPCLK
protein features
start (aa)end (aa)featuredetails 
182287DOMAINHIT.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 909 / 909
position (AA) of stopcodon in wt / mu AA sequence 303 / 303
position of stopcodon in wt / mu cDNA 946 / 946
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 38 / 38
chromosome 9
strand -1
last intron/exon boundary 792
theoretical NMD boundary in CDS 704
length of CDS 909
coding sequence (CDS) position 668
cDNA position
(for ins/del: last normal base / first normal base)		 705
gDNA position
(for ins/del: last normal base / first normal base)		 50625
chromosomal position
(for ins/del: last normal base / first normal base)		 32974542
original gDNA sequence snippet TAGCCATGTACATCTTCATGTGATCAGCCAGGATTTTGATT
altered gDNA sequence snippet TAGCCATGTACATCTTCATGGGATCAGCCAGGATTTTGATT
original cDNA sequence snippet GAGCCATGTACATCTTCATGTGATCAGCCAGGATTTTGATT
altered cDNA sequence snippet GAGCCATGTACATCTTCATGGGATCAGCCAGGATTTTGATT
wildtype AA sequence MSNVNLSVSD FWRVMMRVCW LVRQDSRHQR IRLPHLEAVV IGRGPETKIT DKKCSRQQEF
EEEAKNPGLE THRKRKRSGN SDSIERDAAQ EAEAGTGLEP GSNSGQCSVP LKKGKDAPIK
KESLGHWSQG LKISMQDPKM QVYKDEQVVV IKDKYPKARY HWLVLPWTSI SSLKAVAREH
LELLKHMHTV GEKVIVDFAG SSKLRFRLGY HAIPSMSHVH LHVISQDFDS PCLKNKKHWN
SFNTEYFLES QAVIEMVQEA GRVTVRDGMP ELLKLPLRCH ECQQLLPSIP QLKEHLRKHW
TQ*
mutated AA sequence MSNVNLSVSD FWRVMMRVCW LVRQDSRHQR IRLPHLEAVV IGRGPETKIT DKKCSRQQEF
EEEAKNPGLE THRKRKRSGN SDSIERDAAQ EAEAGTGLEP GSNSGQCSVP LKKGKDAPIK
KESLGHWSQG LKISMQDPKM QVYKDEQVVV IKDKYPKARY HWLVLPWTSI SSLKAVAREH
LELLKHMHTV GEKVIVDFAG SSKLRFRLGY HAIPSMSHVH LHGISQDFDS PCLKNKKHWN
SFNTEYFLES QAVIEMVQEA GRVTVRDGMP ELLKLPLRCH ECQQLLPSIP QLKEHLRKHW
TQ*
speed 0.11 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: 0.999999999999983 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM012897)
  • known disease mutation: rs4428 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr9:32974542A>CN/A show variant in all transcripts   IGV
HGNC symbol APTX
Ensembl transcript ID ENST00000379813
Genbank transcript ID NM_001195249
UniProt peptide Q7Z2E3
alteration type single base exchange
alteration region CDS
DNA changes c.788T>G
cDNA.842T>G
g.50625T>G
AA changes V263G Score: 109 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 263
frameshift no
known variant Reference ID: rs121908132
Allele 'C' was neither found in ExAC nor 1000G.
known disease mutation: rs4428 (pathogenic for Ataxia-oculomotor apraxia type 1) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM012897)

known disease mutation at this position, please check HGMD for details (HGMD ID CM012897)
known disease mutation at this position, please check HGMD for details (HGMD ID CM012897)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.1410.981
4.4511
(flanking)5.3721
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 18
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      263AIPSMSHVHLHVISQDFDSPCLKN
mutated  not conserved    263AIPSMSHVHLHGISQDFDSPCLK
Ptroglodytes  all identical  ENSPTRG00000020850  263AIPSMSHVHLHVISQDFDSPCLK
Mmulatta  all identical  ENSMMUG00000007724  291AIPSMSHVHLHVISQDFDSPCLK
Fcatus  all identical  ENSFCAG00000008728  277AIPSMSHVHLHVISQDFDSPCLK
Mmusculus  all identical  ENSMUSG00000028411  263AIPSMSHVHLHVISQDFDSPCLK
Ggallus  all identical  ENSGALG00000001954  287AIPSMSQLHLHVISQDFDSPALK
Trubripes  all identical  ENSTRUG00000009794  277AIPSMSHVHLHVISQDFDSPCLK
Drerio  all identical  ENSDARG00000027143  245AIPSMSHVHLHVISQDFDSPCLK
Dmelanogaster  all identical  FBgn0038704  99AEPSMQRLHLHVISKDFVSTSLK
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000024143  268AIPSMSHVHLHVISQDFDSPCLK
protein features
start (aa)end (aa)featuredetails 
182287DOMAINHIT.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1029 / 1029
position (AA) of stopcodon in wt / mu AA sequence 343 / 343
position of stopcodon in wt / mu cDNA 1083 / 1083
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 55 / 55
chromosome 9
strand -1
last intron/exon boundary 929
theoretical NMD boundary in CDS 824
length of CDS 1029
coding sequence (CDS) position 788
cDNA position
(for ins/del: last normal base / first normal base)		 842
gDNA position
(for ins/del: last normal base / first normal base)		 50625
chromosomal position
(for ins/del: last normal base / first normal base)		 32974542
original gDNA sequence snippet TAGCCATGTACATCTTCATGTGATCAGCCAGGATTTTGATT
altered gDNA sequence snippet TAGCCATGTACATCTTCATGGGATCAGCCAGGATTTTGATT
original cDNA sequence snippet GAGCCATGTACATCTTCATGTGATCAGCCAGGATTTTGATT
altered cDNA sequence snippet GAGCCATGTACATCTTCATGGGATCAGCCAGGATTTTGATT
wildtype AA sequence MMRVCWLVRQ DSRHQRIRLP HLEAVVIGRG PETKITDKKC SRQQVQLKAE CNKGYVKVKQ
VGVNPTSIDS VVIGKDQEVK LQPGQVLHMV NELYPYIVEF EEEAKNPGLE THRKRKRSGN
SDSIERDAAQ EAEAGTGLEP GSNSGQCSVP LKKGKDAPIK KESLGHWSQG LKISMQDPKM
QVYKDEQVVV IKDKYPKARY HWLVLPWTSI SSLKAVAREH LELLKHMHTV GEKVIVDFAG
SSKLRFRLGY HAIPSMSHVH LHVISQDFDS PCLKNKKHWN SFNTEYFLES QAVIEMVQEA
GRVTVRDGMP ELLKLPLRCH ECQQLLPSIP QLKEHLRKHW TQ*
mutated AA sequence MMRVCWLVRQ DSRHQRIRLP HLEAVVIGRG PETKITDKKC SRQQVQLKAE CNKGYVKVKQ
VGVNPTSIDS VVIGKDQEVK LQPGQVLHMV NELYPYIVEF EEEAKNPGLE THRKRKRSGN
SDSIERDAAQ EAEAGTGLEP GSNSGQCSVP LKKGKDAPIK KESLGHWSQG LKISMQDPKM
QVYKDEQVVV IKDKYPKARY HWLVLPWTSI SSLKAVAREH LELLKHMHTV GEKVIVDFAG
SSKLRFRLGY HAIPSMSHVH LHGISQDFDS PCLKNKKHWN SFNTEYFLES QAVIEMVQEA
GRVTVRDGMP ELLKLPLRCH ECQQLLPSIP QLKEHLRKHW TQ*
speed 1.06 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
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Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999999999983 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM012897)
  • known disease mutation: rs4428 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr9:32974542A>CN/A show variant in all transcripts   IGV
HGNC symbol APTX
Ensembl transcript ID ENST00000309615
Genbank transcript ID NM_175069
UniProt peptide Q7Z2E3
alteration type single base exchange
alteration region CDS
DNA changes c.830T>G
cDNA.854T>G
g.50625T>G
AA changes V277G Score: 109 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 277
frameshift no
known variant Reference ID: rs121908132
Allele 'C' was neither found in ExAC nor 1000G.
known disease mutation: rs4428 (pathogenic for Ataxia-oculomotor apraxia type 1) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM012897)

known disease mutation at this position, please check HGMD for details (HGMD ID CM012897)
known disease mutation at this position, please check HGMD for details (HGMD ID CM012897)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.1410.981
4.4511
(flanking)5.3721
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 18
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      277AIPSMSHVHLHVISQDFDSPCLKN
mutated  not conserved    277AIPSMSHVHLHGISQDFDSPCLK
Ptroglodytes  all identical  ENSPTRG00000020850  263AIPSMSHVHLHVISQDFDSPCLK
Mmulatta  all identical  ENSMMUG00000007724  291AIPSMSHVHLHVISQDFDSPCLK
Fcatus  all identical  ENSFCAG00000008728  277AIPSMSHVHLHVISQDFDSPCLK
Mmusculus  all identical  ENSMUSG00000028411  263AIPSMSHVHLHVISQDFDSPCLK
Ggallus  all identical  ENSGALG00000001954  287AIPSMSQLHLHVISQDFDSPALK
Trubripes  all identical  ENSTRUG00000009794  277AIPSMSHVHLHVISQDFDSPCLK
Drerio  all identical  ENSDARG00000027143  245AIPSMSHVHLHVISQDFDSPCLK
Dmelanogaster  all identical  FBgn0038704  99AEPSMQRLHLHVISKDFVSTSLK
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000024143  268AIPSMSHVHLHVISQDFDSPCLK
protein features
start (aa)end (aa)featuredetails 
182287DOMAINHIT.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 921 / 921
position (AA) of stopcodon in wt / mu AA sequence 307 / 307
position of stopcodon in wt / mu cDNA 945 / 945
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 25 / 25
chromosome 9
strand -1
last intron/exon boundary 941
theoretical NMD boundary in CDS 866
length of CDS 921
coding sequence (CDS) position 830
cDNA position
(for ins/del: last normal base / first normal base)		 854
gDNA position
(for ins/del: last normal base / first normal base)		 50625
chromosomal position
(for ins/del: last normal base / first normal base)		 32974542
original gDNA sequence snippet TAGCCATGTACATCTTCATGTGATCAGCCAGGATTTTGATT
altered gDNA sequence snippet TAGCCATGTACATCTTCATGGGATCAGCCAGGATTTTGATT
original cDNA sequence snippet GAGCCATGTACATCTTCATGTGATCAGCCAGGATTTTGATT
altered cDNA sequence snippet GAGCCATGTACATCTTCATGGGATCAGCCAGGATTTTGATT
wildtype AA sequence MSNVNLSVSD FWRVMMRVCW LVRQDSRHQR IRLPHLEAVV IGRGPETKIT DKKCSRQQVQ
LKAECNKGYV KVKQVGVNPT SIDSVVIGKD QEVKLQPGQV LHMVNELYPY IVEFEEEAKN
PGLETHRKRK RSGNSDSIER DAAQEAEAGT GLEPGSNSGQ CSVPLKKGKD APIKKESLGH
WSQGLKISMQ DPKMQVYKDE QVVVIKDKYP KARYHWLVLP WTSISSLKAV AREHLELLKH
MHTVGEKVIV DFAGSSKLRF RLGYHAIPSM SHVHLHVISQ DFDSPCLKNK KHWNSFNTEY
FLESQE*
mutated AA sequence MSNVNLSVSD FWRVMMRVCW LVRQDSRHQR IRLPHLEAVV IGRGPETKIT DKKCSRQQVQ
LKAECNKGYV KVKQVGVNPT SIDSVVIGKD QEVKLQPGQV LHMVNELYPY IVEFEEEAKN
PGLETHRKRK RSGNSDSIER DAAQEAEAGT GLEPGSNSGQ CSVPLKKGKD APIKKESLGH
WSQGLKISMQ DPKMQVYKDE QVVVIKDKYP KARYHWLVLP WTSISSLKAV AREHLELLKH
MHTVGEKVIV DFAGSSKLRF RLGYHAIPSM SHVHLHGISQ DFDSPCLKNK KHWNSFNTEY
FLESQE*
speed 0.74 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
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Problems