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 5 transcript(s)...
Querying Taster for transcript #1: ENST00000540367
Querying Taster for transcript #2: ENST00000539743
Querying Taster for transcript #3: ENST00000538994
Querying Taster for transcript #4: ENST00000376618
Querying Taster for transcript #5: ENST00000265641
MT speed 0 s - this script 5.55433 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
CPT1Adisease_causing0.999999925528789simple_aaeR316Gsingle base exchangers80356796show file
CPT1Adisease_causing0.999999925528789simple_aaeR316Gsingle base exchangers80356796show file
CPT1Adisease_causing0.999999925528789simple_aaeR316Gsingle base exchangers80356796show file
CPT1Adisease_causing0.999999925528789simple_aaeR316Gsingle base exchangers80356796show file
CPT1Adisease_causing0.999999957703892simple_aaeR68Gsingle base exchangers80356796show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999925528789      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM042964)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr11:68560804G>CN/A show variant in all transcripts   IGV
HGNC symbol CPT1A
Ensembl transcript ID ENST00000540367
Genbank transcript ID N/A
UniProt peptide P50416
alteration type single base exchange
alteration region CDS
DNA changes c.946C>G
cDNA.975C>G
g.51075C>G
AA changes R316G Score: 125 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 316
frameshift no
known variant Reference ID: rs80356796
Allele 'C' was neither found in ExAC nor 1000G.
known disease mutation at this position, please check HGMD for details (HGMD ID CM042964)

known disease mutation at this position, please check HGMD for details (HGMD ID CM042964)
known disease mutation at this position, please check HGMD for details (HGMD ID CM042964)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)4.3070.999
3.2230.995
(flanking)-0.4060.079
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 22
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      316SAQWERMFNTSRIPGEETDTIQHM
mutated  not conserved    316SAQWERMFNTSGIPGEETDTIQH
Ptroglodytes  all identical  ENSPTRG00000003987  316SAQWERMFNTSRIPGEETDTIQH
Mmulatta  all identical  ENSMMUG00000001780  316SAQWERMFNTSRIPGEETDTIQH
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000024900  316SAQWERLFNTSRIPGEETDTIQH
Ggallus  all identical  ENSGALG00000007077  316SAQWERMFNTSRIPGEESDTLQH
Trubripes  all identical  ENSTRUG00000009681  317SAQWERMFNTTRVPGVETDTLQH
Drerio  all identical  ENSDARG00000062054  316SSQYERMFNTSRVPGVETDVLQH
Dmelanogaster  all identical  FBgn0261862  316SWQYERTFNTARVPGLETDRIIH
Celegans  all identical  Y46G5A.17  317TMQYERLFNTCRVPGEEVDRLLH
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
123773TOPO_DOMCytoplasmic (Potential).lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2271 / 2271
position (AA) of stopcodon in wt / mu AA sequence 757 / 757
position of stopcodon in wt / mu cDNA 2300 / 2300
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 30 / 30
chromosome 11
strand -1
last intron/exon boundary 2265
theoretical NMD boundary in CDS 2185
length of CDS 2271
coding sequence (CDS) position 946
cDNA position
(for ins/del: last normal base / first normal base)		 975
gDNA position
(for ins/del: last normal base / first normal base)		 51075
chromosomal position
(for ins/del: last normal base / first normal base)		 68560804
original gDNA sequence snippet AGCGGATGTTTAATACTTCCCGGATCCCAGGAGAGGAGACA
altered gDNA sequence snippet AGCGGATGTTTAATACTTCCGGGATCCCAGGAGAGGAGACA
original cDNA sequence snippet AGCGGATGTTTAATACTTCCCGGATCCCAGGAGAGGAGACA
altered cDNA sequence snippet AGCGGATGTTTAATACTTCCGGGATCCCAGGAGAGGAGACA
wildtype AA sequence MAEAHQAVAF QFTVTPDGID LRLSHEALRQ IYLSGLHSWK KKFIRFKNGI ITGVYPASPS
SWLIVVVGVM TTMYAKIDPS LGIIAKINRT LETANCMSSQ TKNVVSGVLF GTGLWVALIV
TMRYSLKVLL SYHGWMFTEH GKMSRATKIW MGMVKIFSGR KPMLYSFQTS LPRLPVPAVK
DTVNRYLQSV RPLMKEEDFK RMTALAQDFA VGLGPRLQWY LKLKSWWATN YVSDWWEEYI
YLRGRGPLMV NSNYYAMDLL YILPTHIQAA RAGNAIHAIL LYRRKLDREE IKPIRLLGST
IPLCSAQWER MFNTSRIPGE ETDTIQHMRD SKHIVVYHRG RYFKVWLYHD GRLLKPREME
QQMQRILDNT SEPQPGEARL AALTAGDRVP WARCRQAYFG RGKNKQSLDA VEKAAFFVTL
DETEEGYRSE DPDTSMDSYA KSLLHGRCYD RWFDKSFTFV VFKNGKMGLN AEHSWADAPI
VAHLWEYVMS IDSLQLGYAE DGHCKGDINP NIPYPTRLQW DIPGECQEVI ETSLNTANLL
ANDVDFHSFP FVAFGKGIIK KCRTSPDAFV QLALQLAHYK DMGKFCLTYE ASMTRLFREG
RTETVRSCTT ESCDFVRAMV DPAQTVEQRL KLFKLASEKH QHMYRLAMTG SGIDRHLFCL
YVVSKYLAVE SPFLKEVLSE PWRLSTSQTP QQQVELFDLE NNPEYVSSGG GFGPVADDGY
GVSYILVGEN LINFHISSKF SCPETGIISQ GPSSDT*
mutated AA sequence MAEAHQAVAF QFTVTPDGID LRLSHEALRQ IYLSGLHSWK KKFIRFKNGI ITGVYPASPS
SWLIVVVGVM TTMYAKIDPS LGIIAKINRT LETANCMSSQ TKNVVSGVLF GTGLWVALIV
TMRYSLKVLL SYHGWMFTEH GKMSRATKIW MGMVKIFSGR KPMLYSFQTS LPRLPVPAVK
DTVNRYLQSV RPLMKEEDFK RMTALAQDFA VGLGPRLQWY LKLKSWWATN YVSDWWEEYI
YLRGRGPLMV NSNYYAMDLL YILPTHIQAA RAGNAIHAIL LYRRKLDREE IKPIRLLGST
IPLCSAQWER MFNTSGIPGE ETDTIQHMRD SKHIVVYHRG RYFKVWLYHD GRLLKPREME
QQMQRILDNT SEPQPGEARL AALTAGDRVP WARCRQAYFG RGKNKQSLDA VEKAAFFVTL
DETEEGYRSE DPDTSMDSYA KSLLHGRCYD RWFDKSFTFV VFKNGKMGLN AEHSWADAPI
VAHLWEYVMS IDSLQLGYAE DGHCKGDINP NIPYPTRLQW DIPGECQEVI ETSLNTANLL
ANDVDFHSFP FVAFGKGIIK KCRTSPDAFV QLALQLAHYK DMGKFCLTYE ASMTRLFREG
RTETVRSCTT ESCDFVRAMV DPAQTVEQRL KLFKLASEKH QHMYRLAMTG SGIDRHLFCL
YVVSKYLAVE SPFLKEVLSE PWRLSTSQTP QQQVELFDLE NNPEYVSSGG GFGPVADDGY
GVSYILVGEN LINFHISSKF SCPETGIISQ GPSSDT*
speed 1.36 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: 0.999999925528789      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM042964)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr11:68560804G>CN/A show variant in all transcripts   IGV
HGNC symbol CPT1A
Ensembl transcript ID ENST00000539743
Genbank transcript ID N/A
UniProt peptide P50416
alteration type single base exchange
alteration region CDS
DNA changes c.946C>G
cDNA.975C>G
g.51075C>G
AA changes R316G Score: 125 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 316
frameshift no
known variant Reference ID: rs80356796
Allele 'C' was neither found in ExAC nor 1000G.
known disease mutation at this position, please check HGMD for details (HGMD ID CM042964)

known disease mutation at this position, please check HGMD for details (HGMD ID CM042964)
known disease mutation at this position, please check HGMD for details (HGMD ID CM042964)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)4.3070.999
3.2230.995
(flanking)-0.4060.079
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 22
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      316SAQWERMFNTSRIPGEETDTIQHM
mutated  not conserved    316SAQWERMFNTSGIPGEETDTIQH
Ptroglodytes  all identical  ENSPTRG00000003987  316SAQWERMFNTSRIPGEETDTIQH
Mmulatta  all identical  ENSMMUG00000001780  316SAQWERMFNTSRIPGEETDTIQH
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000024900  316SAQWERLFNTSRIPGEETDTIQH
Ggallus  all identical  ENSGALG00000007077  316SAQWERMFNTSRIPGEESDTLQH
Trubripes  all identical  ENSTRUG00000009681  317SAQWERMFNTTRVPGVETDTLQH
Drerio  all identical  ENSDARG00000062054  316SSQYERMFNTSRVPGVETDVLQH
Dmelanogaster  all identical  FBgn0261862  316SWQYERTFNTARVPGLETDRIIH
Celegans  all identical  Y46G5A.17  317TMQYERLFNTCRVPGEEVDRLLH
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
123773TOPO_DOMCytoplasmic (Potential).lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2322 / 2322
position (AA) of stopcodon in wt / mu AA sequence 774 / 774
position of stopcodon in wt / mu cDNA 2351 / 2351
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 30 / 30
chromosome 11
strand -1
last intron/exon boundary 2265
theoretical NMD boundary in CDS 2185
length of CDS 2322
coding sequence (CDS) position 946
cDNA position
(for ins/del: last normal base / first normal base)		 975
gDNA position
(for ins/del: last normal base / first normal base)		 51075
chromosomal position
(for ins/del: last normal base / first normal base)		 68560804
original gDNA sequence snippet AGCGGATGTTTAATACTTCCCGGATCCCAGGAGAGGAGACA
altered gDNA sequence snippet AGCGGATGTTTAATACTTCCGGGATCCCAGGAGAGGAGACA
original cDNA sequence snippet AGCGGATGTTTAATACTTCCCGGATCCCAGGAGAGGAGACA
altered cDNA sequence snippet AGCGGATGTTTAATACTTCCGGGATCCCAGGAGAGGAGACA
wildtype AA sequence MAEAHQAVAF QFTVTPDGID LRLSHEALRQ IYLSGLHSWK KKFIRFKNGI ITGVYPASPS
SWLIVVVGVM TTMYAKIDPS LGIIAKINRT LETANCMSSQ TKNVVSGVLF GTGLWVALIV
TMRYSLKVLL SYHGWMFTEH GKMSRATKIW MGMVKIFSGR KPMLYSFQTS LPRLPVPAVK
DTVNRYLQSV RPLMKEEDFK RMTALAQDFA VGLGPRLQWY LKLKSWWATN YVSDWWEEYI
YLRGRGPLMV NSNYYAMDLL YILPTHIQAA RAGNAIHAIL LYRRKLDREE IKPIRLLGST
IPLCSAQWER MFNTSRIPGE ETDTIQHMRD SKHIVVYHRG RYFKVWLYHD GRLLKPREME
QQMQRILDNT SEPQPGEARL AALTAGDRVP WARCRQAYFG RGKNKQSLDA VEKAAFFVTL
DETEEGYRSE DPDTSMDSYA KSLLHGRCYD RWFDKSFTFV VFKNGKMGLN AEHSWADAPI
VAHLWEYVMS IDSLQLGYAE DGHCKGDINP NIPYPTRLQW DIPGECQEVI ETSLNTANLL
ANDVDFHSFP FVAFGKGIIK KCRTSPDAFV QLALQLAHYK DMGKFCLTYE ASMTRLFREG
RTETVRSCTT ESCDFVRAMV DPAQTVEQRL KLFKLASEKH QHMYRLAMTG SGIDRHLFCL
YVVSKYLAVE SPFLKEVLSE PWRLSTSQTP QQQVELFDLE NNPEYVSSGG GFGPVADDGY
GVSYILVGEN LINFHISSKF SCPETDSHRF GRHLKEAMTD IITLFGLSSN SKK*
mutated AA sequence MAEAHQAVAF QFTVTPDGID LRLSHEALRQ IYLSGLHSWK KKFIRFKNGI ITGVYPASPS
SWLIVVVGVM TTMYAKIDPS LGIIAKINRT LETANCMSSQ TKNVVSGVLF GTGLWVALIV
TMRYSLKVLL SYHGWMFTEH GKMSRATKIW MGMVKIFSGR KPMLYSFQTS LPRLPVPAVK
DTVNRYLQSV RPLMKEEDFK RMTALAQDFA VGLGPRLQWY LKLKSWWATN YVSDWWEEYI
YLRGRGPLMV NSNYYAMDLL YILPTHIQAA RAGNAIHAIL LYRRKLDREE IKPIRLLGST
IPLCSAQWER MFNTSGIPGE ETDTIQHMRD SKHIVVYHRG RYFKVWLYHD GRLLKPREME
QQMQRILDNT SEPQPGEARL AALTAGDRVP WARCRQAYFG RGKNKQSLDA VEKAAFFVTL
DETEEGYRSE DPDTSMDSYA KSLLHGRCYD RWFDKSFTFV VFKNGKMGLN AEHSWADAPI
VAHLWEYVMS IDSLQLGYAE DGHCKGDINP NIPYPTRLQW DIPGECQEVI ETSLNTANLL
ANDVDFHSFP FVAFGKGIIK KCRTSPDAFV QLALQLAHYK DMGKFCLTYE ASMTRLFREG
RTETVRSCTT ESCDFVRAMV DPAQTVEQRL KLFKLASEKH QHMYRLAMTG SGIDRHLFCL
YVVSKYLAVE SPFLKEVLSE PWRLSTSQTP QQQVELFDLE NNPEYVSSGG GFGPVADDGY
GVSYILVGEN LINFHISSKF SCPETDSHRF GRHLKEAMTD IITLFGLSSN SKK*
speed 1.43 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999925528789      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM042964)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr11:68560804G>CN/A show variant in all transcripts   IGV
HGNC symbol CPT1A
Ensembl transcript ID ENST00000376618
Genbank transcript ID NM_001031847
UniProt peptide P50416
alteration type single base exchange
alteration region CDS
DNA changes c.946C>G
cDNA.1116C>G
g.51075C>G
AA changes R316G Score: 125 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 316
frameshift no
known variant Reference ID: rs80356796
Allele 'C' was neither found in ExAC nor 1000G.
known disease mutation at this position, please check HGMD for details (HGMD ID CM042964)

known disease mutation at this position, please check HGMD for details (HGMD ID CM042964)
known disease mutation at this position, please check HGMD for details (HGMD ID CM042964)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)4.3070.999
3.2230.995
(flanking)-0.4060.079
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 22
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      316SAQWERMFNTSRIPGEETDTIQHM
mutated  not conserved    316SAQWERMFNTSGIPGEETDTIQH
Ptroglodytes  all identical  ENSPTRG00000003987  316SAQWERMFNTSRIPGEETDTIQH
Mmulatta  all identical  ENSMMUG00000001780  316SAQWERMFNTSRIPGEETDTIQH
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000024900  316SAQWERLFNTSRIPGEETDTIQH
Ggallus  all identical  ENSGALG00000007077  316SAQWERMFNTSRIPGEESDTLQH
Trubripes  all identical  ENSTRUG00000009681  317SAQWERMFNTTRVPGVETDTLQH
Drerio  all identical  ENSDARG00000062054  316SSQYERMFNTSRVPGVETDVLQH
Dmelanogaster  all identical  FBgn0261862  316SWQYERTFNTARVPGLETDRIIH
Celegans  all identical  Y46G5A.17  317TMQYERLFNTCRVPGEEVDRLLH
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
123773TOPO_DOMCytoplasmic (Potential).lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2271 / 2271
position (AA) of stopcodon in wt / mu AA sequence 757 / 757
position of stopcodon in wt / mu cDNA 2441 / 2441
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 171 / 171
chromosome 11
strand -1
last intron/exon boundary 2406
theoretical NMD boundary in CDS 2185
length of CDS 2271
coding sequence (CDS) position 946
cDNA position
(for ins/del: last normal base / first normal base)		 1116
gDNA position
(for ins/del: last normal base / first normal base)		 51075
chromosomal position
(for ins/del: last normal base / first normal base)		 68560804
original gDNA sequence snippet AGCGGATGTTTAATACTTCCCGGATCCCAGGAGAGGAGACA
altered gDNA sequence snippet AGCGGATGTTTAATACTTCCGGGATCCCAGGAGAGGAGACA
original cDNA sequence snippet AGCGGATGTTTAATACTTCCCGGATCCCAGGAGAGGAGACA
altered cDNA sequence snippet AGCGGATGTTTAATACTTCCGGGATCCCAGGAGAGGAGACA
wildtype AA sequence MAEAHQAVAF QFTVTPDGID LRLSHEALRQ IYLSGLHSWK KKFIRFKNGI ITGVYPASPS
SWLIVVVGVM TTMYAKIDPS LGIIAKINRT LETANCMSSQ TKNVVSGVLF GTGLWVALIV
TMRYSLKVLL SYHGWMFTEH GKMSRATKIW MGMVKIFSGR KPMLYSFQTS LPRLPVPAVK
DTVNRYLQSV RPLMKEEDFK RMTALAQDFA VGLGPRLQWY LKLKSWWATN YVSDWWEEYI
YLRGRGPLMV NSNYYAMDLL YILPTHIQAA RAGNAIHAIL LYRRKLDREE IKPIRLLGST
IPLCSAQWER MFNTSRIPGE ETDTIQHMRD SKHIVVYHRG RYFKVWLYHD GRLLKPREME
QQMQRILDNT SEPQPGEARL AALTAGDRVP WARCRQAYFG RGKNKQSLDA VEKAAFFVTL
DETEEGYRSE DPDTSMDSYA KSLLHGRCYD RWFDKSFTFV VFKNGKMGLN AEHSWADAPI
VAHLWEYVMS IDSLQLGYAE DGHCKGDINP NIPYPTRLQW DIPGECQEVI ETSLNTANLL
ANDVDFHSFP FVAFGKGIIK KCRTSPDAFV QLALQLAHYK DMGKFCLTYE ASMTRLFREG
RTETVRSCTT ESCDFVRAMV DPAQTVEQRL KLFKLASEKH QHMYRLAMTG SGIDRHLFCL
YVVSKYLAVE SPFLKEVLSE PWRLSTSQTP QQQVELFDLE NNPEYVSSGG GFGPVADDGY
GVSYILVGEN LINFHISSKF SCPETGIISQ GPSSDT*
mutated AA sequence MAEAHQAVAF QFTVTPDGID LRLSHEALRQ IYLSGLHSWK KKFIRFKNGI ITGVYPASPS
SWLIVVVGVM TTMYAKIDPS LGIIAKINRT LETANCMSSQ TKNVVSGVLF GTGLWVALIV
TMRYSLKVLL SYHGWMFTEH GKMSRATKIW MGMVKIFSGR KPMLYSFQTS LPRLPVPAVK
DTVNRYLQSV RPLMKEEDFK RMTALAQDFA VGLGPRLQWY LKLKSWWATN YVSDWWEEYI
YLRGRGPLMV NSNYYAMDLL YILPTHIQAA RAGNAIHAIL LYRRKLDREE IKPIRLLGST
IPLCSAQWER MFNTSGIPGE ETDTIQHMRD SKHIVVYHRG RYFKVWLYHD GRLLKPREME
QQMQRILDNT SEPQPGEARL AALTAGDRVP WARCRQAYFG RGKNKQSLDA VEKAAFFVTL
DETEEGYRSE DPDTSMDSYA KSLLHGRCYD RWFDKSFTFV VFKNGKMGLN AEHSWADAPI
VAHLWEYVMS IDSLQLGYAE DGHCKGDINP NIPYPTRLQW DIPGECQEVI ETSLNTANLL
ANDVDFHSFP FVAFGKGIIK KCRTSPDAFV QLALQLAHYK DMGKFCLTYE ASMTRLFREG
RTETVRSCTT ESCDFVRAMV DPAQTVEQRL KLFKLASEKH QHMYRLAMTG SGIDRHLFCL
YVVSKYLAVE SPFLKEVLSE PWRLSTSQTP QQQVELFDLE NNPEYVSSGG GFGPVADDGY
GVSYILVGEN LINFHISSKF SCPETGIISQ GPSSDT*
speed 1.23 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: 0.999999925528789      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM042964)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr11:68560804G>CN/A show variant in all transcripts   IGV
HGNC symbol CPT1A
Ensembl transcript ID ENST00000265641
Genbank transcript ID NM_001876
UniProt peptide P50416
alteration type single base exchange
alteration region CDS
DNA changes c.946C>G
cDNA.1116C>G
g.51075C>G
AA changes R316G Score: 125 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 316
frameshift no
known variant Reference ID: rs80356796
Allele 'C' was neither found in ExAC nor 1000G.
known disease mutation at this position, please check HGMD for details (HGMD ID CM042964)

known disease mutation at this position, please check HGMD for details (HGMD ID CM042964)
known disease mutation at this position, please check HGMD for details (HGMD ID CM042964)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)4.3070.999
3.2230.995
(flanking)-0.4060.079
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 22
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      316SAQWERMFNTSRIPGEETDTIQHM
mutated  not conserved    316SAQWERMFNTSGIPGEETDTIQH
Ptroglodytes  all identical  ENSPTRG00000003987  316SAQWERMFNTSRIPGEETDTIQH
Mmulatta  all identical  ENSMMUG00000001780  316SAQWERMFNTSRIPGEETDTIQH
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000024900  316SAQWERLFNTSRIPGEETDTIQH
Ggallus  all identical  ENSGALG00000007077  316SAQWERMFNTSRIPGEESDTLQH
Trubripes  all identical  ENSTRUG00000009681  317SAQWERMFNTTRVPGVETDTLQH
Drerio  all identical  ENSDARG00000062054  316SSQYERMFNTSRVPGVETDVLQH
Dmelanogaster  all identical  FBgn0261862  316SWQYERTFNTARVPGLETDRIIH
Celegans  all identical  Y46G5A.17  317TMQYERLFNTCRVPGEEVDRLLH
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
123773TOPO_DOMCytoplasmic (Potential).lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2322 / 2322
position (AA) of stopcodon in wt / mu AA sequence 774 / 774
position of stopcodon in wt / mu cDNA 2492 / 2492
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 171 / 171
chromosome 11
strand -1
last intron/exon boundary 2406
theoretical NMD boundary in CDS 2185
length of CDS 2322
coding sequence (CDS) position 946
cDNA position
(for ins/del: last normal base / first normal base)		 1116
gDNA position
(for ins/del: last normal base / first normal base)		 51075
chromosomal position
(for ins/del: last normal base / first normal base)		 68560804
original gDNA sequence snippet AGCGGATGTTTAATACTTCCCGGATCCCAGGAGAGGAGACA
altered gDNA sequence snippet AGCGGATGTTTAATACTTCCGGGATCCCAGGAGAGGAGACA
original cDNA sequence snippet AGCGGATGTTTAATACTTCCCGGATCCCAGGAGAGGAGACA
altered cDNA sequence snippet AGCGGATGTTTAATACTTCCGGGATCCCAGGAGAGGAGACA
wildtype AA sequence MAEAHQAVAF QFTVTPDGID LRLSHEALRQ IYLSGLHSWK KKFIRFKNGI ITGVYPASPS
SWLIVVVGVM TTMYAKIDPS LGIIAKINRT LETANCMSSQ TKNVVSGVLF GTGLWVALIV
TMRYSLKVLL SYHGWMFTEH GKMSRATKIW MGMVKIFSGR KPMLYSFQTS LPRLPVPAVK
DTVNRYLQSV RPLMKEEDFK RMTALAQDFA VGLGPRLQWY LKLKSWWATN YVSDWWEEYI
YLRGRGPLMV NSNYYAMDLL YILPTHIQAA RAGNAIHAIL LYRRKLDREE IKPIRLLGST
IPLCSAQWER MFNTSRIPGE ETDTIQHMRD SKHIVVYHRG RYFKVWLYHD GRLLKPREME
QQMQRILDNT SEPQPGEARL AALTAGDRVP WARCRQAYFG RGKNKQSLDA VEKAAFFVTL
DETEEGYRSE DPDTSMDSYA KSLLHGRCYD RWFDKSFTFV VFKNGKMGLN AEHSWADAPI
VAHLWEYVMS IDSLQLGYAE DGHCKGDINP NIPYPTRLQW DIPGECQEVI ETSLNTANLL
ANDVDFHSFP FVAFGKGIIK KCRTSPDAFV QLALQLAHYK DMGKFCLTYE ASMTRLFREG
RTETVRSCTT ESCDFVRAMV DPAQTVEQRL KLFKLASEKH QHMYRLAMTG SGIDRHLFCL
YVVSKYLAVE SPFLKEVLSE PWRLSTSQTP QQQVELFDLE NNPEYVSSGG GFGPVADDGY
GVSYILVGEN LINFHISSKF SCPETDSHRF GRHLKEAMTD IITLFGLSSN SKK*
mutated AA sequence MAEAHQAVAF QFTVTPDGID LRLSHEALRQ IYLSGLHSWK KKFIRFKNGI ITGVYPASPS
SWLIVVVGVM TTMYAKIDPS LGIIAKINRT LETANCMSSQ TKNVVSGVLF GTGLWVALIV
TMRYSLKVLL SYHGWMFTEH GKMSRATKIW MGMVKIFSGR KPMLYSFQTS LPRLPVPAVK
DTVNRYLQSV RPLMKEEDFK RMTALAQDFA VGLGPRLQWY LKLKSWWATN YVSDWWEEYI
YLRGRGPLMV NSNYYAMDLL YILPTHIQAA RAGNAIHAIL LYRRKLDREE IKPIRLLGST
IPLCSAQWER MFNTSGIPGE ETDTIQHMRD SKHIVVYHRG RYFKVWLYHD GRLLKPREME
QQMQRILDNT SEPQPGEARL AALTAGDRVP WARCRQAYFG RGKNKQSLDA VEKAAFFVTL
DETEEGYRSE DPDTSMDSYA KSLLHGRCYD RWFDKSFTFV VFKNGKMGLN AEHSWADAPI
VAHLWEYVMS IDSLQLGYAE DGHCKGDINP NIPYPTRLQW DIPGECQEVI ETSLNTANLL
ANDVDFHSFP FVAFGKGIIK KCRTSPDAFV QLALQLAHYK DMGKFCLTYE ASMTRLFREG
RTETVRSCTT ESCDFVRAMV DPAQTVEQRL KLFKLASEKH QHMYRLAMTG SGIDRHLFCL
YVVSKYLAVE SPFLKEVLSE PWRLSTSQTP QQQVELFDLE NNPEYVSSGG GFGPVADDGY
GVSYILVGEN LINFHISSKF SCPETDSHRF GRHLKEAMTD IITLFGLSSN SKK*
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: 0.999999957703892      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM042964)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr11:68560804G>CN/A show variant in all transcripts   IGV
HGNC symbol CPT1A
Ensembl transcript ID ENST00000538994
Genbank transcript ID N/A
UniProt peptide P50416
alteration type single base exchange
alteration region CDS
DNA changes c.202C>G
cDNA.304C>G
g.51075C>G
AA changes R68G Score: 125 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 68
frameshift no
known variant Reference ID: rs80356796
Allele 'C' was neither found in ExAC nor 1000G.
known disease mutation at this position, please check HGMD for details (HGMD ID CM042964)

known disease mutation at this position, please check HGMD for details (HGMD ID CM042964)
known disease mutation at this position, please check HGMD for details (HGMD ID CM042964)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)4.3070.999
3.2230.995
(flanking)-0.4060.079
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 22
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      68SAQWERMFNTSRIPGEETDDLP*
mutated  not conserved    68ERMFNTSGIPGEETDDLP
Ptroglodytes  all identical  ENSPTRG00000003987  316ERMFNTSRIPGEETDTI
Mmulatta  all identical  ENSMMUG00000001780  316ERMFNTSRIPGEETDTI
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000024900  316ERLFNTSRIPGEETDTI
Ggallus  all identical  ENSGALG00000007077  316ERMFNTSRIPGEESDTL
Trubripes  all identical  ENSTRUG00000009681  317ERMFNTTRVPGVETDTL
Drerio  all identical  ENSDARG00000062054  316ERMFNTSRVPGVETDVL
Dmelanogaster  all identical  FBgn0261862  315RTFNTARVPGLETD
Celegans  all identical  Y46G5A.17  318YERLFNTCRVPGEEVDRL
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
4873TRANSMEMHelical; (Potential).lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 237 / 237
position (AA) of stopcodon in wt / mu AA sequence 79 / 79
position of stopcodon in wt / mu cDNA 339 / 339
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 103 / 103
chromosome 11
strand -1
last intron/exon boundary 326
theoretical NMD boundary in CDS 173
length of CDS 237
coding sequence (CDS) position 202
cDNA position
(for ins/del: last normal base / first normal base)		 304
gDNA position
(for ins/del: last normal base / first normal base)		 51075
chromosomal position
(for ins/del: last normal base / first normal base)		 68560804
original gDNA sequence snippet AGCGGATGTTTAATACTTCCCGGATCCCAGGAGAGGAGACA
altered gDNA sequence snippet AGCGGATGTTTAATACTTCCGGGATCCCAGGAGAGGAGACA
original cDNA sequence snippet AGCGGATGTTTAATACTTCCCGGATCCCAGGAGAGGAGACA
altered cDNA sequence snippet AGCGGATGTTTAATACTTCCGGGATCCCAGGAGAGGAGACA
wildtype AA sequence MVNSNYYAMD LLYILPTHIQ AARAGNAIHA ILLYRRKLDR EEIKPIRLLG STIPLCSAQW
ERMFNTSRIP GEETDDLP*
mutated AA sequence MVNSNYYAMD LLYILPTHIQ AARAGNAIHA ILLYRRKLDR EEIKPIRLLG STIPLCSAQW
ERMFNTSGIP GEETDDLP*
speed 0.63 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