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: ENST00000353088
Querying Taster for transcript #2: ENST00000476071
Querying Taster for transcript #3: ENST00000216879
Querying Taster for transcript #4: ENST00000350991
Querying Taster for transcript #5: ENST00000381658
MT speed 0 s - this script 4.076131 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
NSFL1Cpolymorphism_automatic0.999835096009965simple_aaeaffectedD290Nsingle base exchangers9575show file
NSFL1Cpolymorphism_automatic0.99990068952715simple_aaeaffectedD292Nsingle base exchangers9575show file
NSFL1Cpolymorphism_automatic0.99990068952715simple_aaeaffectedD292Nsingle base exchangers9575show file
NSFL1Cpolymorphism_automatic0.99990068952715simple_aaeaffectedD179Nsingle base exchangers9575show file
NSFL1Cpolymorphism_automatic0.999963585293897simple_aaeaffectedD259Nsingle base exchangers9575show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.000164903990034898 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr20:1426393C>TN/A show variant in all transcripts   IGV
HGNC symbol NSFL1C
Ensembl transcript ID ENST00000216879
Genbank transcript ID NM_016143
UniProt peptide Q9UNZ2
alteration type single base exchange
alteration region CDS
DNA changes c.868G>A
cDNA.1736G>A
g.22025G>A
AA changes D290N Score: 23 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 290
frameshift no
known variant Reference ID: rs9575
databasehomozygous (T/T)heterozygousallele carriers
1000G64610441690
ExAC13129650919638
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)4.7331
1.4150.998
(flanking)0.0160.985
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased22022wt: 0.41 / mu: 0.46wt: AAGCCAGCTCTTCCATCTTAATCGACGAATCAGAGCCTACC
mu: AAGCCAGCTCTTCCATCTTAATCAACGAATCAGAGCCTACC		 ttaa|TCGA
Acc marginally increased22025wt: 0.7634 / mu: 0.8039 (marginal change - not scored)wt: CCAGCTCTTCCATCTTAATCGACGAATCAGAGCCTACCACA
mu: CCAGCTCTTCCATCTTAATCAACGAATCAGAGCCTACCACA		 atcg|ACGA
Donor increased22025wt: 0.28 / mu: 0.47wt: TAATCGACGAATCAG
mu: TAATCAACGAATCAG		 ATCG|acga
Donor increased22030wt: 0.72 / mu: 0.89wt: GACGAATCAGAGCCT
mu: AACGAATCAGAGCCT		 CGAA|tcag
Donor marginally increased22022wt: 0.9442 / mu: 0.9558 (marginal change - not scored)wt: TCTTAATCGACGAAT
mu: TCTTAATCAACGAAT		 TTAA|tcga
distance from splice site 83
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      290NEAKASSSILIDESEPTTNIQIRL
mutated  all conserved    290NEAKASSSILINESEPTTNIQI
Ptroglodytes  all identical  ENSPTRG00000013164  290NEAKASSSILIDESEPTTNIQI
Mmulatta  all identical  ENSMMUG00000015994  292NEAKASSSILIDESEPTTNI
Fcatus  all identical  ENSFCAG00000012845  273NEAKASSSVSIDESQPTTNIQIR
Mmusculus  all conserved  ENSMUSG00000027455  292NEAKASSSILINEAEPTTNI
Ggallus  all identical  ENSGALG00000006182  290NEAKASSAIAIDESEPVTNIQIR
Trubripes  all identical  ENSTRUG00000007860  292AANEASTSVTLDYDQPLTSI
Drerio  all identical  ENSDARG00000087640  291SEAEASASISVDTSQPITSIQ
Dmelanogaster  all conserved  FBgn0033179  325QEASARDAINLNSEAPSTTLQIR
Celegans  all conserved  Y94H6A.9  216DAKKELSTNMNEPTTNIQIR
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
291368DOMAINUBX.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1113 / 1113
position (AA) of stopcodon in wt / mu AA sequence 371 / 371
position of stopcodon in wt / mu cDNA 1981 / 1981
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 869 / 869
chromosome 20
strand -1
last intron/exon boundary 1819
theoretical NMD boundary in CDS 900
length of CDS 1113
coding sequence (CDS) position 868
cDNA position
(for ins/del: last normal base / first normal base)		 1736
gDNA position
(for ins/del: last normal base / first normal base)		 22025
chromosomal position
(for ins/del: last normal base / first normal base)		 1426393
original gDNA sequence snippet CCAGCTCTTCCATCTTAATCGACGAATCAGAGCCTACCACA
altered gDNA sequence snippet CCAGCTCTTCCATCTTAATCAACGAATCAGAGCCTACCACA
original cDNA sequence snippet CCAGCTCTTCCATCTTAATCGACGAATCAGAGCCTACCACA
altered cDNA sequence snippet CCAGCTCTTCCATCTTAATCAACGAATCAGAGCCTACCACA
wildtype AA sequence MAAERQEALR EFVAVTGAEE DRARFFLESA GWDLQIALAS FYEDGGDEDI VTISQATPSS
VSRGTAPSDN RVTSFRDLIH DQDEDEEEEE GQRFYAGGSE RSGQQIVGPP RKKSPNELVD
DLFKGAKEHG AVAVERVTKS PGETSKPRPF AGGGYRLGAA PEEESAYVAG EKRQHSSQDV
HVVLKLWKSG FSLDNGELRS YQDPSNAQFL ESIRRGEVPA ELRRLAHGGQ VNLDMEDHRD
EDFVKPKGAF KAFTGEGQKL GSTAPQVLST SSPAQQAENE AKASSSILID ESEPTTNIQI
RLADGGRLVQ KFNHSHRISD IRLFIVDARP AMAATSFILM TTFPNKELAD ESQTLKEANL
LNAVIVQRLT *
mutated AA sequence MAAERQEALR EFVAVTGAEE DRARFFLESA GWDLQIALAS FYEDGGDEDI VTISQATPSS
VSRGTAPSDN RVTSFRDLIH DQDEDEEEEE GQRFYAGGSE RSGQQIVGPP RKKSPNELVD
DLFKGAKEHG AVAVERVTKS PGETSKPRPF AGGGYRLGAA PEEESAYVAG EKRQHSSQDV
HVVLKLWKSG FSLDNGELRS YQDPSNAQFL ESIRRGEVPA ELRRLAHGGQ VNLDMEDHRD
EDFVKPKGAF KAFTGEGQKL GSTAPQVLST SSPAQQAENE AKASSSILIN ESEPTTNIQI
RLADGGRLVQ KFNHSHRISD IRLFIVDARP AMAATSFILM TTFPNKELAD ESQTLKEANL
LNAVIVQRLT *
speed 0.58 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 9.93104728496713e-05 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr20:1426393C>TN/A show variant in all transcripts   IGV
HGNC symbol NSFL1C
Ensembl transcript ID ENST00000476071
Genbank transcript ID NM_001206736
UniProt peptide Q9UNZ2
alteration type single base exchange
alteration region CDS
DNA changes c.874G>A
cDNA.968G>A
g.22025G>A
AA changes D292N Score: 23 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 292
frameshift no
known variant Reference ID: rs9575
databasehomozygous (T/T)heterozygousallele carriers
1000G64610441690
ExAC13129650919638
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)4.7331
1.4150.998
(flanking)0.0160.985
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased22022wt: 0.41 / mu: 0.46wt: AAGCCAGCTCTTCCATCTTAATCGACGAATCAGAGCCTACC
mu: AAGCCAGCTCTTCCATCTTAATCAACGAATCAGAGCCTACC		 ttaa|TCGA
Acc marginally increased22025wt: 0.7634 / mu: 0.8039 (marginal change - not scored)wt: CCAGCTCTTCCATCTTAATCGACGAATCAGAGCCTACCACA
mu: CCAGCTCTTCCATCTTAATCAACGAATCAGAGCCTACCACA		 atcg|ACGA
Donor increased22025wt: 0.28 / mu: 0.47wt: TAATCGACGAATCAG
mu: TAATCAACGAATCAG		 ATCG|acga
Donor increased22030wt: 0.72 / mu: 0.89wt: GACGAATCAGAGCCT
mu: AACGAATCAGAGCCT		 CGAA|tcag
Donor marginally increased22022wt: 0.9442 / mu: 0.9558 (marginal change - not scored)wt: TCTTAATCGACGAAT
mu: TCTTAATCAACGAAT		 TTAA|tcga
distance from splice site 83
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      292NEAKASSSILIDESEPTTNIQIRL
mutated  all conserved    292NEAKASSSILINESEPTTNI
Ptroglodytes  all identical  ENSPTRG00000013164  290NEAKASSSILIDESEPTTNI
Mmulatta  all identical  ENSMMUG00000015994  292NEAKASSSILIDESEPTTNI
Fcatus  all identical  ENSFCAG00000012845  273NEAKASSSVSIDESQPTTNIQIR
Mmusculus  all conserved  ENSMUSG00000027455  292NEAKASSSILINEAEPTTNI
Ggallus  all identical  ENSGALG00000006182  290NEAKASSAIAIDESEPVTNIQI
Trubripes  all identical  ENSTRUG00000007860  292AANEASTSVTLDYDQPLT
Drerio  all identical  ENSDARG00000087640  291SEAEASASISVDTSQPITS
Dmelanogaster  all conserved  FBgn0033179  324QEASARDAINLNSEAPSTTLQIR
Celegans  all conserved  Y94H6A.9  216DAKKELSTNMNEPTTNIQIR
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
291368DOMAINUBX.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1119 / 1119
position (AA) of stopcodon in wt / mu AA sequence 373 / 373
position of stopcodon in wt / mu cDNA 1213 / 1213
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 95 / 95
chromosome 20
strand -1
last intron/exon boundary 1051
theoretical NMD boundary in CDS 906
length of CDS 1119
coding sequence (CDS) position 874
cDNA position
(for ins/del: last normal base / first normal base)		 968
gDNA position
(for ins/del: last normal base / first normal base)		 22025
chromosomal position
(for ins/del: last normal base / first normal base)		 1426393
original gDNA sequence snippet CCAGCTCTTCCATCTTAATCGACGAATCAGAGCCTACCACA
altered gDNA sequence snippet CCAGCTCTTCCATCTTAATCAACGAATCAGAGCCTACCACA
original cDNA sequence snippet CCAGCTCTTCCATCTTAATCGACGAATCAGAGCCTACCACA
altered cDNA sequence snippet CCAGCTCTTCCATCTTAATCAACGAATCAGAGCCTACCACA
wildtype AA sequence MAAERQEALR EFVAVTGAEE DRARFFLESA GWDLQIALAS FYEDGGDEDI VTISQATPSS
VSRGTAPSDN RVTSFRDLIH DQDEDEEEEE GQRSRFYAGG SERSGQQIVG PPRKKSPNEL
VDDLFKGAKE HGAVAVERVT KSPGETSKPR PFAGGGYRLG AAPEEESAYV AGEKRQHSSQ
DVHVVLKLWK SGFSLDNGEL RSYQDPSNAQ FLESIRRGEV PAELRRLAHG GQVNLDMEDH
RDEDFVKPKG AFKAFTGEGQ KLGSTAPQVL STSSPAQQAE NEAKASSSIL IDESEPTTNI
QIRLADGGRL VQKFNHSHRI SDIRLFIVDA RPAMAATSFI LMTTFPNKEL ADESQTLKEA
NLLNAVIVQR LT*
mutated AA sequence MAAERQEALR EFVAVTGAEE DRARFFLESA GWDLQIALAS FYEDGGDEDI VTISQATPSS
VSRGTAPSDN RVTSFRDLIH DQDEDEEEEE GQRSRFYAGG SERSGQQIVG PPRKKSPNEL
VDDLFKGAKE HGAVAVERVT KSPGETSKPR PFAGGGYRLG AAPEEESAYV AGEKRQHSSQ
DVHVVLKLWK SGFSLDNGEL RSYQDPSNAQ FLESIRRGEV PAELRRLAHG GQVNLDMEDH
RDEDFVKPKG AFKAFTGEGQ KLGSTAPQVL STSSPAQQAE NEAKASSSIL INESEPTTNI
QIRLADGGRL VQKFNHSHRI SDIRLFIVDA RPAMAATSFI LMTTFPNKEL ADESQTLKEA
NLLNAVIVQR LT*
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

polymorphism

 Model: simple_aae, prob: 9.93104728496713e-05 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr20:1426393C>TN/A show variant in all transcripts   IGV
HGNC symbol NSFL1C
Ensembl transcript ID ENST00000350991
Genbank transcript ID N/A
UniProt peptide Q9UNZ2
alteration type single base exchange
alteration region CDS
DNA changes c.874G>A
cDNA.894G>A
g.22025G>A
AA changes D292N Score: 23 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 292
frameshift no
known variant Reference ID: rs9575
databasehomozygous (T/T)heterozygousallele carriers
1000G64610441690
ExAC13129650919638
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)4.7331
1.4150.998
(flanking)0.0160.985
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased22022wt: 0.41 / mu: 0.46wt: AAGCCAGCTCTTCCATCTTAATCGACGAATCAGAGCCTACC
mu: AAGCCAGCTCTTCCATCTTAATCAACGAATCAGAGCCTACC		 ttaa|TCGA
Acc marginally increased22025wt: 0.7634 / mu: 0.8039 (marginal change - not scored)wt: CCAGCTCTTCCATCTTAATCGACGAATCAGAGCCTACCACA
mu: CCAGCTCTTCCATCTTAATCAACGAATCAGAGCCTACCACA		 atcg|ACGA
Donor increased22025wt: 0.28 / mu: 0.47wt: TAATCGACGAATCAG
mu: TAATCAACGAATCAG		 ATCG|acga
Donor increased22030wt: 0.72 / mu: 0.89wt: GACGAATCAGAGCCT
mu: AACGAATCAGAGCCT		 CGAA|tcag
Donor marginally increased22022wt: 0.9442 / mu: 0.9558 (marginal change - not scored)wt: TCTTAATCGACGAAT
mu: TCTTAATCAACGAAT		 TTAA|tcga
distance from splice site 83
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      292NEAKASSSILIDESEPTTNIQIRL
mutated  all conserved    292NEAKASSSILINESEPTTNI
Ptroglodytes  all identical  ENSPTRG00000013164  290NEAKASSSILIDESEPTTNI
Mmulatta  all identical  ENSMMUG00000015994  292NEAKASSSILIDESEPTTNI
Fcatus  all identical  ENSFCAG00000012845  273NEAKASSSVSIDESQPTTNIQIR
Mmusculus  all conserved  ENSMUSG00000027455  292NEAKASSSILINEAEPTTNI
Ggallus  all identical  ENSGALG00000006182  290NEAKASSAIAIDESEPVTNIQI
Trubripes  all identical  ENSTRUG00000007860  292AANEASTSVTLDYDQPLT
Drerio  all identical  ENSDARG00000087640  291SEAEASASISVDTSQPITS
Dmelanogaster  all conserved  FBgn0033179  324QEASARDAINLNSEAPSTTLQIR
Celegans  all conserved  Y94H6A.9  216DAKKELSTNMNEPTTNIQIR
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
291368DOMAINUBX.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1119 / 1119
position (AA) of stopcodon in wt / mu AA sequence 373 / 373
position of stopcodon in wt / mu cDNA 1139 / 1139
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 21 / 21
chromosome 20
strand -1
last intron/exon boundary 977
theoretical NMD boundary in CDS 906
length of CDS 1119
coding sequence (CDS) position 874
cDNA position
(for ins/del: last normal base / first normal base)		 894
gDNA position
(for ins/del: last normal base / first normal base)		 22025
chromosomal position
(for ins/del: last normal base / first normal base)		 1426393
original gDNA sequence snippet CCAGCTCTTCCATCTTAATCGACGAATCAGAGCCTACCACA
altered gDNA sequence snippet CCAGCTCTTCCATCTTAATCAACGAATCAGAGCCTACCACA
original cDNA sequence snippet CCAGCTCTTCCATCTTAATCGACGAATCAGAGCCTACCACA
altered cDNA sequence snippet CCAGCTCTTCCATCTTAATCAACGAATCAGAGCCTACCACA
wildtype AA sequence MAAERQEALR EFVAVTGAEE DRARFFLESA GWDLQIALAS FYEDGGDEDI VTISQATPSS
VSRGTAPSDN RVTSFRDLIH DQDEDEEEEE GQRDRFYAGG SERSGQQIVG PPRKKSPNEL
VDDLFKGAKE HGAVAVERVT KSPGETSKPR PFAGGGYRLG AAPEEESAYV AGEKRQHSSQ
DVHVVLKLWK SGFSLDNGEL RSYQDPSNAQ FLESIRRGEV PAELRRLAHG GQVNLDMEDH
RDEDFVKPKG AFKAFTGEGQ KLGSTAPQVL STSSPAQQAE NEAKASSSIL IDESEPTTNI
QIRLADGGRL VQKFNHSHRI SDIRLFIVDA RPAMAATSFI LMTTFPNKEL ADESQTLKEA
NLLNAVIVQR LT*
mutated AA sequence MAAERQEALR EFVAVTGAEE DRARFFLESA GWDLQIALAS FYEDGGDEDI VTISQATPSS
VSRGTAPSDN RVTSFRDLIH DQDEDEEEEE GQRDRFYAGG SERSGQQIVG PPRKKSPNEL
VDDLFKGAKE HGAVAVERVT KSPGETSKPR PFAGGGYRLG AAPEEESAYV AGEKRQHSSQ
DVHVVLKLWK SGFSLDNGEL RSYQDPSNAQ FLESIRRGEV PAELRRLAHG GQVNLDMEDH
RDEDFVKPKG AFKAFTGEGQ KLGSTAPQVL STSSPAQQAE NEAKASSSIL INESEPTTNI
QIRLADGGRL VQKFNHSHRI SDIRLFIVDA RPAMAATSFI LMTTFPNKEL ADESQTLKEA
NLLNAVIVQR LT*
speed 0.81 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 9.93104728496713e-05 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr20:1426393C>TN/A show variant in all transcripts   IGV
HGNC symbol NSFL1C
Ensembl transcript ID ENST00000381658
Genbank transcript ID N/A
UniProt peptide Q9UNZ2
alteration type single base exchange
alteration region CDS
DNA changes c.535G>A
cDNA.1623G>A
g.22025G>A
AA changes D179N Score: 23 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 179
frameshift no
known variant Reference ID: rs9575
databasehomozygous (T/T)heterozygousallele carriers
1000G64610441690
ExAC13129650919638
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)4.7331
1.4150.998
(flanking)0.0160.985
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased22022wt: 0.41 / mu: 0.46wt: AAGCCAGCTCTTCCATCTTAATCGACGAATCAGAGCCTACC
mu: AAGCCAGCTCTTCCATCTTAATCAACGAATCAGAGCCTACC		 ttaa|TCGA
Acc marginally increased22025wt: 0.7634 / mu: 0.8039 (marginal change - not scored)wt: CCAGCTCTTCCATCTTAATCGACGAATCAGAGCCTACCACA
mu: CCAGCTCTTCCATCTTAATCAACGAATCAGAGCCTACCACA		 atcg|ACGA
Donor increased22025wt: 0.28 / mu: 0.47wt: TAATCGACGAATCAG
mu: TAATCAACGAATCAG		 ATCG|acga
Donor increased22030wt: 0.72 / mu: 0.89wt: GACGAATCAGAGCCT
mu: AACGAATCAGAGCCT		 CGAA|tcag
Donor marginally increased22022wt: 0.9442 / mu: 0.9558 (marginal change - not scored)wt: TCTTAATCGACGAAT
mu: TCTTAATCAACGAAT		 TTAA|tcga
distance from splice site 83
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      179NEAKASSSILIDESEPTTNIQIRL
mutated  all conserved    179NEAKASSSILINESEPTTNIQIR
Ptroglodytes  all identical  ENSPTRG00000013164  290NEAKASSSILIDESEPTTNIQIR
Mmulatta  all identical  ENSMMUG00000015994  292NEAKASSSILIDESEPTTNIQIR
Fcatus  all identical  ENSFCAG00000012845  273NEAKASSSVSIDESQPTTNIQIR
Mmusculus  all conserved  ENSMUSG00000027455  292NEAKASSSILINEAEPTTNIQIR
Ggallus  all identical  ENSGALG00000006182  290NEAKASSAIAIDESEPVTNIQIR
Trubripes  all identical  ENSTRUG00000007860  292AANEASTSVTLDYDQPLTSIQIR
Drerio  all identical  ENSDARG00000087640  291SEAEASASISVDTSQPITSIQI
Dmelanogaster  all conserved  FBgn0033179  327QEASARDAINLNSEAPSTTLQIR
Celegans  all conserved  Y94H6A.9  213NEAKQLEDAKKELSTNMNEPTTNIQIR
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
179244DOMAINSEP.lost
180193STRANDmight get lost (downstream of altered splice site)
198200STRANDmight get lost (downstream of altered splice site)
204206TURNmight get lost (downstream of altered splice site)
207215HELIXmight get lost (downstream of altered splice site)
220223HELIXmight get lost (downstream of altered splice site)
231239STRANDmight get lost (downstream of altered splice site)
245250STRANDmight get lost (downstream of altered splice site)
255259STRANDmight get lost (downstream of altered splice site)
260262HELIXmight get lost (downstream of altered splice site)
265268STRANDmight get lost (downstream of altered splice site)
272272MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
291368DOMAINUBX.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 780 / 780
position (AA) of stopcodon in wt / mu AA sequence 260 / 260
position of stopcodon in wt / mu cDNA 1868 / 1868
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 1089 / 1089
chromosome 20
strand -1
last intron/exon boundary 1706
theoretical NMD boundary in CDS 567
length of CDS 780
coding sequence (CDS) position 535
cDNA position
(for ins/del: last normal base / first normal base)		 1623
gDNA position
(for ins/del: last normal base / first normal base)		 22025
chromosomal position
(for ins/del: last normal base / first normal base)		 1426393
original gDNA sequence snippet CCAGCTCTTCCATCTTAATCGACGAATCAGAGCCTACCACA
altered gDNA sequence snippet CCAGCTCTTCCATCTTAATCAACGAATCAGAGCCTACCACA
original cDNA sequence snippet CCAGCTCTTCCATCTTAATCGACGAATCAGAGCCTACCACA
altered cDNA sequence snippet CCAGCTCTTCCATCTTAATCAACGAATCAGAGCCTACCACA
wildtype AA sequence MTKMKMRRKR KARGAKEHGA VAVERVTKSP GETSKPRPFA GGGYRLGAAP EEESAYVAGE
KRQHSSQDVH VVLKLWKSGF SLDNGELRSY QDPSNAQFLE SIRRGEVPAE LRRLAHGGQV
NLDMEDHRDE DFVKPKGAFK AFTGEGQKLG STAPQVLSTS SPAQQAENEA KASSSILIDE
SEPTTNIQIR LADGGRLVQK FNHSHRISDI RLFIVDARPA MAATSFILMT TFPNKELADE
SQTLKEANLL NAVIVQRLT*
mutated AA sequence MTKMKMRRKR KARGAKEHGA VAVERVTKSP GETSKPRPFA GGGYRLGAAP EEESAYVAGE
KRQHSSQDVH VVLKLWKSGF SLDNGELRSY QDPSNAQFLE SIRRGEVPAE LRRLAHGGQV
NLDMEDHRDE DFVKPKGAFK AFTGEGQKLG STAPQVLSTS SPAQQAENEA KASSSILINE
SEPTTNIQIR LADGGRLVQK FNHSHRISDI RLFIVDARPA MAATSFILMT TFPNKELADE
SQTLKEANLL NAVIVQRLT*
speed 0.56 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

polymorphism

 Model: simple_aae, prob: 3.64147061028447e-05 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr20:1426393C>TN/A show variant in all transcripts   IGV
HGNC symbol NSFL1C
Ensembl transcript ID ENST00000353088
Genbank transcript ID NM_018839
UniProt peptide Q9UNZ2
alteration type single base exchange
alteration region CDS
DNA changes c.775G>A
cDNA.779G>A
g.22025G>A
AA changes D259N Score: 23 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 259
frameshift no
known variant Reference ID: rs9575
databasehomozygous (T/T)heterozygousallele carriers
1000G64610441690
ExAC13129650919638
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)4.7331
1.4150.998
(flanking)0.0160.985
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased22022wt: 0.41 / mu: 0.46wt: AAGCCAGCTCTTCCATCTTAATCGACGAATCAGAGCCTACC
mu: AAGCCAGCTCTTCCATCTTAATCAACGAATCAGAGCCTACC		 ttaa|TCGA
Acc marginally increased22025wt: 0.7634 / mu: 0.8039 (marginal change - not scored)wt: CCAGCTCTTCCATCTTAATCGACGAATCAGAGCCTACCACA
mu: CCAGCTCTTCCATCTTAATCAACGAATCAGAGCCTACCACA		 atcg|ACGA
Donor increased22025wt: 0.28 / mu: 0.47wt: TAATCGACGAATCAG
mu: TAATCAACGAATCAG		 ATCG|acga
Donor increased22030wt: 0.72 / mu: 0.89wt: GACGAATCAGAGCCT
mu: AACGAATCAGAGCCT		 CGAA|tcag
Donor marginally increased22022wt: 0.9442 / mu: 0.9558 (marginal change - not scored)wt: TCTTAATCGACGAAT
mu: TCTTAATCAACGAAT		 TTAA|tcga
distance from splice site 83
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      259NEAKASSSILIDESEPTTNIQIRL
mutated  all conserved    259NEAKASSSILINESEPTTNIQIR
Ptroglodytes  all identical  ENSPTRG00000013164  290NEAKASSSILIDESEPTTNIQI
Mmulatta  all identical  ENSMMUG00000015994  292NEAKASSSILIDESEPTTNI
Fcatus  all identical  ENSFCAG00000012845  273NEAKASSSVSIDESQPTTNIQIR
Mmusculus  all conserved  ENSMUSG00000027455  292NEAKASSSILINEAEPTTNI
Ggallus  all identical  ENSGALG00000006182  290NEAKASSAIAIDESEPVTNIQIR
Trubripes  all identical  ENSTRUG00000007860  292AANEASTSVTLDYDQPLTSIQ
Drerio  all identical  ENSDARG00000087640  291SEAEASASISVDTSQPITSIQ
Dmelanogaster  all conserved  FBgn0033179  325QEASARDAINLNSEAPSTTLQIR
Celegans  all conserved  Y94H6A.9  197NEAKQLEDAKKELSTNMNEPTTNIQIR
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
255259STRANDlost
260262HELIXmight get lost (downstream of altered splice site)
265268STRANDmight get lost (downstream of altered splice site)
272272MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
291368DOMAINUBX.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1020 / 1020
position (AA) of stopcodon in wt / mu AA sequence 340 / 340
position of stopcodon in wt / mu cDNA 1024 / 1024
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 5 / 5
chromosome 20
strand -1
last intron/exon boundary 862
theoretical NMD boundary in CDS 807
length of CDS 1020
coding sequence (CDS) position 775
cDNA position
(for ins/del: last normal base / first normal base)		 779
gDNA position
(for ins/del: last normal base / first normal base)		 22025
chromosomal position
(for ins/del: last normal base / first normal base)		 1426393
original gDNA sequence snippet CCAGCTCTTCCATCTTAATCGACGAATCAGAGCCTACCACA
altered gDNA sequence snippet CCAGCTCTTCCATCTTAATCAACGAATCAGAGCCTACCACA
original cDNA sequence snippet CCAGCTCTTCCATCTTAATCGACGAATCAGAGCCTACCACA
altered cDNA sequence snippet CCAGCTCTTCCATCTTAATCAACGAATCAGAGCCTACCACA
wildtype AA sequence MAAERQEALR EFVAVTGAEE DRARFFLESA GWDLQIALAS FYEDGGDEDI VTISQATPSS
VSRGTAPSDN RVTSFRDLIH DQDEDEEEEE GQRFYAGGSE RSGQQIVGPP RKKSPNELVD
DLFKGAKEHG AVAVERVTKS PGETSKPRVH VVLKLWKSGF SLDNGELRSY QDPSNAQFLE
SIRRGEVPAE LRRLAHGGQV NLDMEDHRDE DFVKPKGAFK AFTGEGQKLG STAPQVLSTS
SPAQQAENEA KASSSILIDE SEPTTNIQIR LADGGRLVQK FNHSHRISDI RLFIVDARPA
MAATSFILMT TFPNKELADE SQTLKEANLL NAVIVQRLT*
mutated AA sequence MAAERQEALR EFVAVTGAEE DRARFFLESA GWDLQIALAS FYEDGGDEDI VTISQATPSS
VSRGTAPSDN RVTSFRDLIH DQDEDEEEEE GQRFYAGGSE RSGQQIVGPP RKKSPNELVD
DLFKGAKEHG AVAVERVTKS PGETSKPRVH VVLKLWKSGF SLDNGELRSY QDPSNAQFLE
SIRRGEVPAE LRRLAHGGQV NLDMEDHRDE DFVKPKGAFK AFTGEGQKLG STAPQVLSTS
SPAQQAENEA KASSSILINE SEPTTNIQIR LADGGRLVQK FNHSHRISDI RLFIVDARPA
MAATSFILMT TFPNKELADE SQTLKEANLL NAVIVQRLT*
speed 0.70 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