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 3 transcript(s)...
Querying Taster for transcript #1: ENST00000520933
Querying Taster for transcript #2: ENST00000240132
Querying Taster for transcript #3: ENST00000407991
MT speed 0 s - this script 4.722412 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
CHRNA2polymorphism_automatic8.61977156318972e-13simple_aaeaffectedT22Isingle base exchangers2472553show file
CHRNA2polymorphism_automatic8.61977156318972e-13simple_aaeaffectedT22Isingle base exchangers2472553show file
CHRNA2polymorphism_automatic8.61977156318972e-13simple_aaeaffectedT22Isingle base exchangers2472553show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999138 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM0911425)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr8:27328511G>AN/A show variant in all transcripts   IGV
HGNC symbol CHRNA2
Ensembl transcript ID ENST00000520933
Genbank transcript ID N/A
UniProt peptide Q15822
alteration type single base exchange
alteration region CDS
DNA changes c.65C>T
cDNA.219C>T
g.8890C>T
AA changes T22I Score: 89 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 22
frameshift no
known variant Reference ID: rs2472553
databasehomozygous (A/A)heterozygousallele carriers
1000G147813960
ExAC20481583017878

known disease mutation at this position, please check HGMD for details (HGMD ID CM0911425)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.9780.008
-0.3030.009
(flanking)-0.0240.094
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased8889wt: 0.3519 / mu: 0.4370 (marginal change - not scored)wt: GCCTGTGGTGGCTCCTTCTGACCCCAGCAGGTGAGTGTTTG
mu: GCCTGTGGTGGCTCCTTCTGATCCCAGCAGGTGAGTGTTTG		 ctga|CCCC
Acc increased8888wt: 0.53 / mu: 0.73wt: AGCCTGTGGTGGCTCCTTCTGACCCCAGCAGGTGAGTGTTT
mu: AGCCTGTGGTGGCTCCTTCTGATCCCAGCAGGTGAGTGTTT		 tctg|ACCC
Acc increased8894wt: 0.62 / mu: 0.75wt: TGGTGGCTCCTTCTGACCCCAGCAGGTGAGTGTTTGTCACC
mu: TGGTGGCTCCTTCTGATCCCAGCAGGTGAGTGTTTGTCACC		 ccca|GCAG
Donor increased8893wt: 0.44 / mu: 0.57wt: GACCCCAGCAGGTGA
mu: GATCCCAGCAGGTGA		 CCCC|agca
Acc gained88920.34mu: TGTGGTGGCTCCTTCTGATCCCAGCAGGTGAGTGTTTGTCA atcc|CAGC
distance from splice site 9
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      22FTKLSLWWLLLTPAGGEEAKRPPP
mutated  not conserved    22FTKLSLWWLLLIPAGGEEAKRPP
Ptroglodytes  all identical  ENSPTRG00000020105  22FTKLSLWWLLLTPAGGEEAKRPP
Mmulatta  all identical  ENSMMUG00000021514  22FTKLSLWWLLLTPAGGEEAKRPP
Fcatus  all conserved  ENSFCAG00000014421  22AMRLGLWWLLLSPAG-EGPKHPP
Mmusculus  not conserved  ENSMUSG00000022041  22WIHLYLWCLLLMPA---------
Ggallus  no homologue    
Trubripes  no alignment  ENSTRUG00000008002  n/a
Drerio  no alignment  ENSDARG00000006602  n/a
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no alignment  ENSXETG00000017553  n/a
protein features
start (aa)end (aa)featuredetails 
126SIGNALPotential.lost
27264TOPO_DOMExtracellular.might get lost (downstream of altered splice site)
7979CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
129129CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
183183DISULFIDBy similarity.might get lost (downstream of altered splice site)
197197DISULFIDBy similarity.might get lost (downstream of altered splice site)
235235CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
247247DISULFIDAssociated with receptor activation (Bymight get lost (downstream of altered splice site)
248248DISULFIDAssociated with receptor activation (By similarity).might get lost (downstream of altered splice site)
265289TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
297315TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
331352TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
353502TOPO_DOMCytoplasmic.might get lost (downstream of altered splice site)
503521TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1590 / 1590
position (AA) of stopcodon in wt / mu AA sequence 530 / 530
position of stopcodon in wt / mu cDNA 1744 / 1744
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 155 / 155
chromosome 8
strand -1
last intron/exon boundary 1619
theoretical NMD boundary in CDS 1414
length of CDS 1590
coding sequence (CDS) position 65
cDNA position
(for ins/del: last normal base / first normal base)		 219
gDNA position
(for ins/del: last normal base / first normal base)		 8890
chromosomal position
(for ins/del: last normal base / first normal base)		 27328511
original gDNA sequence snippet CCTGTGGTGGCTCCTTCTGACCCCAGCAGGTGAGTGTTTGT
altered gDNA sequence snippet CCTGTGGTGGCTCCTTCTGATCCCAGCAGGTGAGTGTTTGT
original cDNA sequence snippet CCTGTGGTGGCTCCTTCTGACCCCAGCAGGTGGAGAGGAAG
altered cDNA sequence snippet CCTGTGGTGGCTCCTTCTGATCCCAGCAGGTGGAGAGGAAG
wildtype AA sequence MGPSCPVFLS FTKLSLWWLL LTPAGGEEAK RPPPRAPGDP LSSPSPTALP QGGSHTETED
RLFKHLFRGY NRWARPVPNT SDVVIVRFGL SIAQLIDVDE KNQMMTTNVW LKQEWSDYKL
RWNPTDFGNI TSLRVPSEMI WIPDIVLYNN ADGEFAVTHM TKAHLFSTGT VHWVPPAIYK
SSCSIDVTFF PFDQQNCKMK FGSWTYDKAK IDLEQMEQTV DLKDYWESGE WAIVNATGTY
NSKKYDCCAE IYPDVTYAFV IRRLPLFYTI NLIIPCLLIS CLTVLVFYLP SDCGEKITLC
ISVLLSLTVF LLLITEIIPS TSLVIPLIGE YLLFTMIFVT LSIVITVFVL NVHHRSPSTH
TMPHWVRGAL LGCVPRWLLM NRPPPPVELC HPLRLKLSPS YHWLESNVDA EEREVVVEEE
DRWACAGHVA PSVGTLCSHG HLHSGASGPK AEALLQEGEL LLSPHMQKAL EGVHYIADHL
RSEDADSSVK EDWKYVAMVI DRIFLWLFII VCFLGTIGLF LPPFLAGMI*
mutated AA sequence MGPSCPVFLS FTKLSLWWLL LIPAGGEEAK RPPPRAPGDP LSSPSPTALP QGGSHTETED
RLFKHLFRGY NRWARPVPNT SDVVIVRFGL SIAQLIDVDE KNQMMTTNVW LKQEWSDYKL
RWNPTDFGNI TSLRVPSEMI WIPDIVLYNN ADGEFAVTHM TKAHLFSTGT VHWVPPAIYK
SSCSIDVTFF PFDQQNCKMK FGSWTYDKAK IDLEQMEQTV DLKDYWESGE WAIVNATGTY
NSKKYDCCAE IYPDVTYAFV IRRLPLFYTI NLIIPCLLIS CLTVLVFYLP SDCGEKITLC
ISVLLSLTVF LLLITEIIPS TSLVIPLIGE YLLFTMIFVT LSIVITVFVL NVHHRSPSTH
TMPHWVRGAL LGCVPRWLLM NRPPPPVELC HPLRLKLSPS YHWLESNVDA EEREVVVEEE
DRWACAGHVA PSVGTLCSHG HLHSGASGPK AEALLQEGEL LLSPHMQKAL EGVHYIADHL
RSEDADSSVK EDWKYVAMVI DRIFLWLFII VCFLGTIGLF LPPFLAGMI*
speed 1.26 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: 0.999999999999138 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM0911425)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr8:27328511G>AN/A show variant in all transcripts   IGV
HGNC symbol CHRNA2
Ensembl transcript ID ENST00000240132
Genbank transcript ID N/A
UniProt peptide Q15822
alteration type single base exchange
alteration region CDS
DNA changes c.65C>T
cDNA.639C>T
g.8890C>T
AA changes T22I Score: 89 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 22
frameshift no
known variant Reference ID: rs2472553
databasehomozygous (A/A)heterozygousallele carriers
1000G147813960
ExAC20481583017878

known disease mutation at this position, please check HGMD for details (HGMD ID CM0911425)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.9780.008
-0.3030.009
(flanking)-0.0240.094
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased8889wt: 0.3519 / mu: 0.4370 (marginal change - not scored)wt: GCCTGTGGTGGCTCCTTCTGACCCCAGCAGGTGAGTGTTTG
mu: GCCTGTGGTGGCTCCTTCTGATCCCAGCAGGTGAGTGTTTG		 ctga|CCCC
Acc increased8888wt: 0.53 / mu: 0.73wt: AGCCTGTGGTGGCTCCTTCTGACCCCAGCAGGTGAGTGTTT
mu: AGCCTGTGGTGGCTCCTTCTGATCCCAGCAGGTGAGTGTTT		 tctg|ACCC
Acc increased8894wt: 0.62 / mu: 0.75wt: TGGTGGCTCCTTCTGACCCCAGCAGGTGAGTGTTTGTCACC
mu: TGGTGGCTCCTTCTGATCCCAGCAGGTGAGTGTTTGTCACC		 ccca|GCAG
Donor increased8893wt: 0.44 / mu: 0.57wt: GACCCCAGCAGGTGA
mu: GATCCCAGCAGGTGA		 CCCC|agca
Acc gained88920.34mu: TGTGGTGGCTCCTTCTGATCCCAGCAGGTGAGTGTTTGTCA atcc|CAGC
distance from splice site 9
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      22FTKLSLWWLLLTPAGGEEAKRPPP
mutated  not conserved    22FTKLSLWWLLLIPAGGEEAKRPP
Ptroglodytes  all identical  ENSPTRG00000020105  22FTKLSLWWLLLTPAGGEEAKRPP
Mmulatta  all identical  ENSMMUG00000021514  22FTKLSLWWLLLTPAGGEEAKRPP
Fcatus  all conserved  ENSFCAG00000014421  22AMRLGLWWLLLSPAG-EGPKHPP
Mmusculus  not conserved  ENSMUSG00000022041  22WIHLYLWCLLLMPA---------
Ggallus  no homologue    
Trubripes  no alignment  ENSTRUG00000008002  n/a
Drerio  no alignment  ENSDARG00000006602  n/a
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no alignment  ENSXETG00000017553  n/a
protein features
start (aa)end (aa)featuredetails 
126SIGNALPotential.lost
27264TOPO_DOMExtracellular.might get lost (downstream of altered splice site)
7979CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
129129CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
183183DISULFIDBy similarity.might get lost (downstream of altered splice site)
197197DISULFIDBy similarity.might get lost (downstream of altered splice site)
235235CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
247247DISULFIDAssociated with receptor activation (Bymight get lost (downstream of altered splice site)
248248DISULFIDAssociated with receptor activation (By similarity).might get lost (downstream of altered splice site)
265289TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
297315TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
331352TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
353502TOPO_DOMCytoplasmic.might get lost (downstream of altered splice site)
503521TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1545 / 1545
position (AA) of stopcodon in wt / mu AA sequence 515 / 515
position of stopcodon in wt / mu cDNA 2119 / 2119
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 575 / 575
chromosome 8
strand -1
last intron/exon boundary 1994
theoretical NMD boundary in CDS 1369
length of CDS 1545
coding sequence (CDS) position 65
cDNA position
(for ins/del: last normal base / first normal base)		 639
gDNA position
(for ins/del: last normal base / first normal base)		 8890
chromosomal position
(for ins/del: last normal base / first normal base)		 27328511
original gDNA sequence snippet CCTGTGGTGGCTCCTTCTGACCCCAGCAGGTGAGTGTTTGT
altered gDNA sequence snippet CCTGTGGTGGCTCCTTCTGATCCCAGCAGGTGAGTGTTTGT
original cDNA sequence snippet CCTGTGGTGGCTCCTTCTGACCCCAGCAGGTGGAGAGGAAG
altered cDNA sequence snippet CCTGTGGTGGCTCCTTCTGATCCCAGCAGGTGGAGAGGAAG
wildtype AA sequence MGPSCPVFLS FTKLSLWWLL LTPAGGEEAK RPPPRAPGDP LSSPSPTALP QGGSHTETED
RLFKHLFRGY NRWARPVPNT SDVDEKNQMM TTNVWLKQEW SDYKLRWNPT DFGNITSLRV
PSEMIWIPDI VLYNNADGEF AVTHMTKAHL FSTGTVHWVP PAIYKSSCSI DVTFFPFDQQ
NCKMKFGSWT YDKAKIDLEQ MEQTVDLKDY WESGEWAIVN ATGTYNSKKY DCCAEIYPDV
TYAFVIRRLP LFYTINLIIP CLLISCLTVL VFYLPSDCGE KITLCISVLL SLTVFLLLIT
EIIPSTSLVI PLIGEYLLFT MIFVTLSIVI TVFVLNVHHR SPSTHTMPHW VRGALLGCVP
RWLLMNRPPP PVELCHPLRL KLSPSYHWLE SNVDAEEREV VVEEEDRWAC AGHVAPSVGT
LCSHGHLHSG ASGPKAEALL QEGELLLSPH MQKALEGVHY IADHLRSEDA DSSVKEDWKY
VAMVIDRIFL WLFIIVCFLG TIGLFLPPFL AGMI*
mutated AA sequence MGPSCPVFLS FTKLSLWWLL LIPAGGEEAK RPPPRAPGDP LSSPSPTALP QGGSHTETED
RLFKHLFRGY NRWARPVPNT SDVDEKNQMM TTNVWLKQEW SDYKLRWNPT DFGNITSLRV
PSEMIWIPDI VLYNNADGEF AVTHMTKAHL FSTGTVHWVP PAIYKSSCSI DVTFFPFDQQ
NCKMKFGSWT YDKAKIDLEQ MEQTVDLKDY WESGEWAIVN ATGTYNSKKY DCCAEIYPDV
TYAFVIRRLP LFYTINLIIP CLLISCLTVL VFYLPSDCGE KITLCISVLL SLTVFLLLIT
EIIPSTSLVI PLIGEYLLFT MIFVTLSIVI TVFVLNVHHR SPSTHTMPHW VRGALLGCVP
RWLLMNRPPP PVELCHPLRL KLSPSYHWLE SNVDAEEREV VVEEEDRWAC AGHVAPSVGT
LCSHGHLHSG ASGPKAEALL QEGELLLSPH MQKALEGVHY IADHLRSEDA DSSVKEDWKY
VAMVIDRIFL WLFIIVCFLG TIGLFLPPFL AGMI*
speed 1.32 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: 0.999999999999138 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM0911425)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr8:27328511G>AN/A show variant in all transcripts   IGV
HGNC symbol CHRNA2
Ensembl transcript ID ENST00000407991
Genbank transcript ID NM_000742
UniProt peptide Q15822
alteration type single base exchange
alteration region CDS
DNA changes c.65C>T
cDNA.674C>T
g.8890C>T
AA changes T22I Score: 89 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 22
frameshift no
known variant Reference ID: rs2472553
databasehomozygous (A/A)heterozygousallele carriers
1000G147813960
ExAC20481583017878

known disease mutation at this position, please check HGMD for details (HGMD ID CM0911425)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.9780.008
-0.3030.009
(flanking)-0.0240.094
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased8889wt: 0.3519 / mu: 0.4370 (marginal change - not scored)wt: GCCTGTGGTGGCTCCTTCTGACCCCAGCAGGTGAGTGTTTG
mu: GCCTGTGGTGGCTCCTTCTGATCCCAGCAGGTGAGTGTTTG		 ctga|CCCC
Acc increased8888wt: 0.53 / mu: 0.73wt: AGCCTGTGGTGGCTCCTTCTGACCCCAGCAGGTGAGTGTTT
mu: AGCCTGTGGTGGCTCCTTCTGATCCCAGCAGGTGAGTGTTT		 tctg|ACCC
Acc increased8894wt: 0.62 / mu: 0.75wt: TGGTGGCTCCTTCTGACCCCAGCAGGTGAGTGTTTGTCACC
mu: TGGTGGCTCCTTCTGATCCCAGCAGGTGAGTGTTTGTCACC		 ccca|GCAG
Donor increased8893wt: 0.44 / mu: 0.57wt: GACCCCAGCAGGTGA
mu: GATCCCAGCAGGTGA		 CCCC|agca
Acc gained88920.34mu: TGTGGTGGCTCCTTCTGATCCCAGCAGGTGAGTGTTTGTCA atcc|CAGC
distance from splice site 9
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      22FTKLSLWWLLLTPAGGEEAKRPPP
mutated  not conserved    22FTKLSLWWLLLIPAGGEEAKRPP
Ptroglodytes  all identical  ENSPTRG00000020105  22FTKLSLWWLLLTPAGGEEAKRPP
Mmulatta  all identical  ENSMMUG00000021514  22FTKLSLWWLLLTPAGGEEAKRPP
Fcatus  all conserved  ENSFCAG00000014421  22AMRLGLWWLLLSPAG-EGPKHPP
Mmusculus  not conserved  ENSMUSG00000022041  22WIHLYLWCLLLMPA---------
Ggallus  no homologue    
Trubripes  no alignment  ENSTRUG00000008002  n/a
Drerio  no alignment  ENSDARG00000006602  n/a
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no alignment  ENSXETG00000017553  n/a
protein features
start (aa)end (aa)featuredetails 
126SIGNALPotential.lost
27264TOPO_DOMExtracellular.might get lost (downstream of altered splice site)
7979CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
129129CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
183183DISULFIDBy similarity.might get lost (downstream of altered splice site)
197197DISULFIDBy similarity.might get lost (downstream of altered splice site)
235235CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
247247DISULFIDAssociated with receptor activation (Bymight get lost (downstream of altered splice site)
248248DISULFIDAssociated with receptor activation (By similarity).might get lost (downstream of altered splice site)
265289TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
297315TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
331352TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
353502TOPO_DOMCytoplasmic.might get lost (downstream of altered splice site)
503521TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1590 / 1590
position (AA) of stopcodon in wt / mu AA sequence 530 / 530
position of stopcodon in wt / mu cDNA 2199 / 2199
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 610 / 610
chromosome 8
strand -1
last intron/exon boundary 2074
theoretical NMD boundary in CDS 1414
length of CDS 1590
coding sequence (CDS) position 65
cDNA position
(for ins/del: last normal base / first normal base)		 674
gDNA position
(for ins/del: last normal base / first normal base)		 8890
chromosomal position
(for ins/del: last normal base / first normal base)		 27328511
original gDNA sequence snippet CCTGTGGTGGCTCCTTCTGACCCCAGCAGGTGAGTGTTTGT
altered gDNA sequence snippet CCTGTGGTGGCTCCTTCTGATCCCAGCAGGTGAGTGTTTGT
original cDNA sequence snippet CCTGTGGTGGCTCCTTCTGACCCCAGCAGGTGGAGAGGAAG
altered cDNA sequence snippet CCTGTGGTGGCTCCTTCTGATCCCAGCAGGTGGAGAGGAAG
wildtype AA sequence MGPSCPVFLS FTKLSLWWLL LTPAGGEEAK RPPPRAPGDP LSSPSPTALP QGGSHTETED
RLFKHLFRGY NRWARPVPNT SDVVIVRFGL SIAQLIDVDE KNQMMTTNVW LKQEWSDYKL
RWNPTDFGNI TSLRVPSEMI WIPDIVLYNN ADGEFAVTHM TKAHLFSTGT VHWVPPAIYK
SSCSIDVTFF PFDQQNCKMK FGSWTYDKAK IDLEQMEQTV DLKDYWESGE WAIVNATGTY
NSKKYDCCAE IYPDVTYAFV IRRLPLFYTI NLIIPCLLIS CLTVLVFYLP SDCGEKITLC
ISVLLSLTVF LLLITEIIPS TSLVIPLIGE YLLFTMIFVT LSIVITVFVL NVHHRSPSTH
TMPHWVRGAL LGCVPRWLLM NRPPPPVELC HPLRLKLSPS YHWLESNVDA EEREVVVEEE
DRWACAGHVA PSVGTLCSHG HLHSGASGPK AEALLQEGEL LLSPHMQKAL EGVHYIADHL
RSEDADSSVK EDWKYVAMVI DRIFLWLFII VCFLGTIGLF LPPFLAGMI*
mutated AA sequence MGPSCPVFLS FTKLSLWWLL LIPAGGEEAK RPPPRAPGDP LSSPSPTALP QGGSHTETED
RLFKHLFRGY NRWARPVPNT SDVVIVRFGL SIAQLIDVDE KNQMMTTNVW LKQEWSDYKL
RWNPTDFGNI TSLRVPSEMI WIPDIVLYNN ADGEFAVTHM TKAHLFSTGT VHWVPPAIYK
SSCSIDVTFF PFDQQNCKMK FGSWTYDKAK IDLEQMEQTV DLKDYWESGE WAIVNATGTY
NSKKYDCCAE IYPDVTYAFV IRRLPLFYTI NLIIPCLLIS CLTVLVFYLP SDCGEKITLC
ISVLLSLTVF LLLITEIIPS TSLVIPLIGE YLLFTMIFVT LSIVITVFVL NVHHRSPSTH
TMPHWVRGAL LGCVPRWLLM NRPPPPVELC HPLRLKLSPS YHWLESNVDA EEREVVVEEE
DRWACAGHVA PSVGTLCSHG HLHSGASGPK AEALLQEGEL LLSPHMQKAL EGVHYIADHL
RSEDADSSVK EDWKYVAMVI DRIFLWLFII VCFLGTIGLF LPPFLAGMI*
speed 1.29 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

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