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 4 transcript(s)...
Querying Taster for transcript #1: ENST00000258385
Querying Taster for transcript #2: ENST00000543200
Querying Taster for transcript #3: ENST00000536614
Querying Taster for transcript #4: ENST00000457943
MT speed 3.53 s - this script 4.075954 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
CHRNDdisease_causing_automatic0.999999955856254simple_aaeaffected0P271Qsingle base exchangers121909503show file
CHRNDdisease_causing_automatic0.999999980294958simple_aaeaffected0P256Qsingle base exchangers121909503show file
CHRNDdisease_causing_automatic1without_aaeaffected0single base exchangers121909503show file
CHRNDdisease_causing_automatic1without_aaeaffected0single base exchangers121909503show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999955856254 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM030015)
  • known disease mutation: rs18364 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr2:233394841C>AN/A show variant in all transcripts   IGV
HGNC symbol CHRND
Ensembl transcript ID ENST00000258385
Genbank transcript ID NM_000751
UniProt peptide Q07001
alteration type single base exchange
alteration region CDS
DNA changes c.812C>A
cDNA.844C>A
g.4139C>A
AA changes P271Q Score: 76 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 271
frameshift no
known variant Reference ID: rs121909503
Allele 'A' was neither found in ExAC nor 1000G.
known disease mutation: rs18364 (pathogenic for Congenital myasthenic syndrome 3B) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM030015)

known disease mutation at this position, please check HGMD for details (HGMD ID CM030015)
known disease mutation at this position, please check HGMD for details (HGMD ID CM030015)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)6.021
4.360.999
(flanking)-2.4090.009
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 increased4139wt: 0.3633 / mu: 0.3942 (marginal change - not scored)wt: CAACCTGGTCTTCTACCTACCGGCTGACAGTGAGCCTCCAG
mu: CAACCTGGTCTTCTACCTACAGGCTGACAGTGAGCCTCCAG		 tacc|GGCT
Acc gained41380.33mu: TCAACCTGGTCTTCTACCTACAGGCTGACAGTGAGCCTCCA ctac|AGGC
distance from splice site 9
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      271ISFMVNLVFYLPADSGEKTSVAIS
mutated  not conserved    271ISFMVNLVFYLQADSGEKTSVAI
Ptroglodytes  all identical  ENSPTRG00000013040  271ISFMVNLVFYLPADSGEKTSVAI
Mmulatta  all identical  ENSMMUG00000022147  271ISFMVNLVFYLPADSGEKTSVAI
Fcatus  all identical  ENSFCAG00000005679  267ISFMINLVFYLPADSGEKTSMAI
Mmusculus  all identical  ENSMUSG00000026251  274ISFMINLVFYLPGDCGEKTSVAI
Ggallus  all identical  ENSGALG00000007899  270IAFMAILVFYLPADSGEKMTLVI
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000019342  270SFLASLVYYLPADSGEKMTLSI
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000027884  273IALMANLVFYLPADSGEKMTLAI
protein features
start (aa)end (aa)featuredetails 
246270TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
278299TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
312333TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
334471TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
390390MOD_RESPhosphotyrosine; by Tyr-kinases (By similarity).might get lost (downstream of altered splice site)
472490TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1554 / 1554
position (AA) of stopcodon in wt / mu AA sequence 518 / 518
position of stopcodon in wt / mu cDNA 1586 / 1586
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 33 / 33
chromosome 2
strand 1
last intron/exon boundary 1404
theoretical NMD boundary in CDS 1321
length of CDS 1554
coding sequence (CDS) position 812
cDNA position
(for ins/del: last normal base / first normal base)		 844
gDNA position
(for ins/del: last normal base / first normal base)		 4139
chromosomal position
(for ins/del: last normal base / first normal base)		 233394841
original gDNA sequence snippet CAACCTGGTCTTCTACCTACCGGCTGACAGTGAGCCTCCAG
altered gDNA sequence snippet CAACCTGGTCTTCTACCTACAGGCTGACAGTGAGCCTCCAG
original cDNA sequence snippet CAACCTGGTCTTCTACCTACCGGCTGACAGTGGTGAGAAGA
altered cDNA sequence snippet CAACCTGGTCTTCTACCTACAGGCTGACAGTGGTGAGAAGA
wildtype AA sequence MEGPVLTLGL LAALAVCGSW GLNEEERLIR HLFQEKGYNK ELRPVAHKEE SVDVALALTL
SNLISLKEVE ETLTTNVWIE HGWTDNRLKW NAEEFGNISV LRLPPDMVWL PEIVLENNND
GSFQISYSCN VLVYHYGFVY WLPPAIFRSS CPISVTYFPF DWQNCSLKFS SLKYTAKEIT
LSLKQDAKEN RTYPVEWIII DPEGFTENGE WEIVHRPARV NVDPRAPLDS PSRQDITFYL
IIRRKPLFYI INILVPCVLI SFMVNLVFYL PADSGEKTSV AISVLLAQSV FLLLISKRLP
ATSMAIPLIG KFLLFGMVLV TMVVVICVIV LNIHFRTPST HVLSEGVKKL FLETLPELLH
MSRPAEDGPS PGALVRRSSS LGYISKAEEY FLLKSRSDLM FEKQSERHGL ARRLTTARRP
PASSEQAQQE LFNELKPAVD GANFIVNHMR DQNNYNEEKD SWNRVARTVD RLCLFVVTPV
MVVGTAWIFL QGVYNQPPPQ PFPGDPYSYN VQDKRFI*
mutated AA sequence MEGPVLTLGL LAALAVCGSW GLNEEERLIR HLFQEKGYNK ELRPVAHKEE SVDVALALTL
SNLISLKEVE ETLTTNVWIE HGWTDNRLKW NAEEFGNISV LRLPPDMVWL PEIVLENNND
GSFQISYSCN VLVYHYGFVY WLPPAIFRSS CPISVTYFPF DWQNCSLKFS SLKYTAKEIT
LSLKQDAKEN RTYPVEWIII DPEGFTENGE WEIVHRPARV NVDPRAPLDS PSRQDITFYL
IIRRKPLFYI INILVPCVLI SFMVNLVFYL QADSGEKTSV AISVLLAQSV FLLLISKRLP
ATSMAIPLIG KFLLFGMVLV TMVVVICVIV LNIHFRTPST HVLSEGVKKL FLETLPELLH
MSRPAEDGPS PGALVRRSSS LGYISKAEEY FLLKSRSDLM FEKQSERHGL ARRLTTARRP
PASSEQAQQE LFNELKPAVD GANFIVNHMR DQNNYNEEKD SWNRVARTVD RLCLFVVTPV
MVVGTAWIFL QGVYNQPPPQ PFPGDPYSYN VQDKRFI*
speed 0.47 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: 0.999999980294958 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM030015)
  • known disease mutation: rs18364 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr2:233394841C>AN/A show variant in all transcripts   IGV
HGNC symbol CHRND
Ensembl transcript ID ENST00000543200
Genbank transcript ID N/A
UniProt peptide Q07001
alteration type single base exchange
alteration region CDS
DNA changes c.767C>A
cDNA.823C>A
g.4139C>A
AA changes P256Q Score: 76 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 256
frameshift no
known variant Reference ID: rs121909503
Allele 'A' was neither found in ExAC nor 1000G.
known disease mutation: rs18364 (pathogenic for Congenital myasthenic syndrome 3B) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM030015)

known disease mutation at this position, please check HGMD for details (HGMD ID CM030015)
known disease mutation at this position, please check HGMD for details (HGMD ID CM030015)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)6.021
4.360.999
(flanking)-2.4090.009
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 increased4139wt: 0.3633 / mu: 0.3942 (marginal change - not scored)wt: CAACCTGGTCTTCTACCTACCGGCTGACAGTGAGCCTCCAG
mu: CAACCTGGTCTTCTACCTACAGGCTGACAGTGAGCCTCCAG		 tacc|GGCT
Acc gained41380.33mu: TCAACCTGGTCTTCTACCTACAGGCTGACAGTGAGCCTCCA ctac|AGGC
distance from splice site 9
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      256ISFMVNLVFYLPADSGEKTSVAIS
mutated  not conserved    256ISFMVNLVFYLQADSGEKTSVAI
Ptroglodytes  all identical  ENSPTRG00000013040  271ISFMVNLVFYLPADSGEKTSVAI
Mmulatta  all identical  ENSMMUG00000022147  271ISFMVNLVFYLPADSGEKTSVAI
Fcatus  all identical  ENSFCAG00000005679  267ISFMINLVFYLPADSGEKTSMAI
Mmusculus  all identical  ENSMUSG00000026251  274ISFMINLVFYLPGDCGEKTSVAI
Ggallus  all identical  ENSGALG00000007899  270IAFMAILVFYLPADSGEKMTLVI
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000019342  270SFLASLVYYLPADSGEKMTLSI
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000027884  273IALMANLVFYLPADSGEKMTLAI
protein features
start (aa)end (aa)featuredetails 
246270TRANSMEMHelical; (Potential).lost
278299TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
312333TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
334471TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
390390MOD_RESPhosphotyrosine; by Tyr-kinases (By similarity).might get lost (downstream of altered splice site)
472490TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1509 / 1509
position (AA) of stopcodon in wt / mu AA sequence 503 / 503
position of stopcodon in wt / mu cDNA 1565 / 1565
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 57 / 57
chromosome 2
strand 1
last intron/exon boundary 1383
theoretical NMD boundary in CDS 1276
length of CDS 1509
coding sequence (CDS) position 767
cDNA position
(for ins/del: last normal base / first normal base)		 823
gDNA position
(for ins/del: last normal base / first normal base)		 4139
chromosomal position
(for ins/del: last normal base / first normal base)		 233394841
original gDNA sequence snippet CAACCTGGTCTTCTACCTACCGGCTGACAGTGAGCCTCCAG
altered gDNA sequence snippet CAACCTGGTCTTCTACCTACAGGCTGACAGTGAGCCTCCAG
original cDNA sequence snippet CAACCTGGTCTTCTACCTACCGGCTGACAGTGGTGAGAAGA
altered cDNA sequence snippet CAACCTGGTCTTCTACCTACAGGCTGACAGTGGTGAGAAGA
wildtype AA sequence MEGPVLTLGL LAALAVCGSW GLNEEERLIR HLFQEKGYNK ELRPVAHKEE SVDVALALTL
SNLISLGWTD NRLKWNAEEF GNISVLRLPP DMVWLPEIVL ENNNDGSFQI SYSCNVLVYH
YGFVYWLPPA IFRSSCPISV TYFPFDWQNC SLKFSSLKYT AKEITLSLKQ DAKENRTYPV
EWIIIDPEGF TENGEWEIVH RPARVNVDPR APLDSPSRQD ITFYLIIRRK PLFYIINILV
PCVLISFMVN LVFYLPADSG EKTSVAISVL LAQSVFLLLI SKRLPATSMA IPLIGKFLLF
GMVLVTMVVV ICVIVLNIHF RTPSTHVLSE GVKKLFLETL PELLHMSRPA EDGPSPGALV
RRSSSLGYIS KAEEYFLLKS RSDLMFEKQS ERHGLARRLT TARRPPASSE QAQQELFNEL
KPAVDGANFI VNHMRDQNNY NEEKDSWNRV ARTVDRLCLF VVTPVMVVGT AWIFLQGVYN
QPPPQPFPGD PYSYNVQDKR FI*
mutated AA sequence MEGPVLTLGL LAALAVCGSW GLNEEERLIR HLFQEKGYNK ELRPVAHKEE SVDVALALTL
SNLISLGWTD NRLKWNAEEF GNISVLRLPP DMVWLPEIVL ENNNDGSFQI SYSCNVLVYH
YGFVYWLPPA IFRSSCPISV TYFPFDWQNC SLKFSSLKYT AKEITLSLKQ DAKENRTYPV
EWIIIDPEGF TENGEWEIVH RPARVNVDPR APLDSPSRQD ITFYLIIRRK PLFYIINILV
PCVLISFMVN LVFYLQADSG EKTSVAISVL LAQSVFLLLI SKRLPATSMA IPLIGKFLLF
GMVLVTMVVV ICVIVLNIHF RTPSTHVLSE GVKKLFLETL PELLHMSRPA EDGPSPGALV
RRSSSLGYIS KAEEYFLLKS RSDLMFEKQS ERHGLARRLT TARRPPASSE QAQQELFNEL
KPAVDGANFI VNHMRDQNNY NEEKDSWNRV ARTVDRLCLF VVTPVMVVGT AWIFLQGVYN
QPPPQPFPGD PYSYNVQDKR FI*
speed 1.55 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: without_aae, prob: 1 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • known disease mutation at this position (HGMD CM030015)
  • known disease mutation: rs18364 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr2:233394841C>AN/A show variant in all transcripts   IGV
HGNC symbol CHRND
Ensembl transcript ID ENST00000536614
Genbank transcript ID N/A
UniProt peptide Q07001
alteration type single base exchange
alteration region CDS
DNA changes c.702C>A
cDNA.730C>A
g.4139C>A
AA changes no AA changes
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift no
known variant Reference ID: rs121909503
Allele 'A' was neither found in ExAC nor 1000G.
known disease mutation: rs18364 (pathogenic for Congenital myasthenic syndrome 3B) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM030015)

known disease mutation at this position, please check HGMD for details (HGMD ID CM030015)
known disease mutation at this position, please check HGMD for details (HGMD ID CM030015)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)6.021
4.360.999
(flanking)-2.4090.009
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 increased4139wt: 0.3633 / mu: 0.3942 (marginal change - not scored)wt: CAACCTGGTCTTCTACCTACCGGCTGACAGTGAGCCTCCAG
mu: CAACCTGGTCTTCTACCTACAGGCTGACAGTGAGCCTCCAG		 tacc|GGCT
Acc gained41380.33mu: TCAACCTGGTCTTCTACCTACAGGCTGACAGTGAGCCTCCA ctac|AGGC
distance from splice site 9
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
22245TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
246270TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
278299TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
312333TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
334471TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
390390MOD_RESPhosphotyrosine; by Tyr-kinases (By similarity).might get lost (downstream of altered splice site)
472490TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered no
position of stopcodon in wt / mu CDS 708 / 708
position (AA) of stopcodon in wt / mu AA sequence 236 / 236
position of stopcodon in wt / mu cDNA 736 / 736
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 29 / 29
chromosome 2
strand 1
last intron/exon boundary 851
theoretical NMD boundary in CDS 772
length of CDS 708
coding sequence (CDS) position 702
cDNA position
(for ins/del: last normal base / first normal base)		 730
gDNA position
(for ins/del: last normal base / first normal base)		 4139
chromosomal position
(for ins/del: last normal base / first normal base)		 233394841
original gDNA sequence snippet CAACCTGGTCTTCTACCTACCGGCTGACAGTGAGCCTCCAG
altered gDNA sequence snippet CAACCTGGTCTTCTACCTACAGGCTGACAGTGAGCCTCCAG
original cDNA sequence snippet CAACCTGGTCTTCTACCTACCGGCTGACAGTGGTGAGAAGA
altered cDNA sequence snippet CAACCTGGTCTTCTACCTACAGGCTGACAGTGGTGAGAAGA
wildtype AA sequence MEGPVLTLGL LAALAVCGSW GLNEEERLIR HLFQEKGYNK ELRPVAHKEE SVDVALALTL
SNLISLKEVE ETLTTNVWIE HGWTDNRLKW NAEEFGNISV LRLPPDMVWL PEIVLENNND
GSFQISYSCN VLVYHYGFVY WLPPAIFRSS CPISVTYFPF DWQNCSLKFR ERGVGDSPPA
GQGQRGPQSP SGQPQPPGHH LLPHHPPQAP LLHHQHPGAL RAHLLHGQPG LLPTG*
mutated AA sequence MEGPVLTLGL LAALAVCGSW GLNEEERLIR HLFQEKGYNK ELRPVAHKEE SVDVALALTL
SNLISLKEVE ETLTTNVWIE HGWTDNRLKW NAEEFGNISV LRLPPDMVWL PEIVLENNND
GSFQISYSCN VLVYHYGFVY WLPPAIFRSS CPISVTYFPF DWQNCSLKFR ERGVGDSPPA
GQGQRGPQSP SGQPQPPGHH LLPHHPPQAP LLHHQHPGAL RAHLLHGQPG LLPTG*
speed 1.14 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: without_aae, prob: 1 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • known disease mutation at this position (HGMD CM030015)
  • known disease mutation: rs18364 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr2:233394841C>AN/A show variant in all transcripts   IGV
HGNC symbol CHRND
Ensembl transcript ID ENST00000457943
Genbank transcript ID N/A
UniProt peptide Q07001
alteration type single base exchange
alteration region intron
DNA changes g.4139C>A
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs121909503
Allele 'A' was neither found in ExAC nor 1000G.
known disease mutation: rs18364 (pathogenic for Congenital myasthenic syndrome 3B) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM030015)

known disease mutation at this position, please check HGMD for details (HGMD ID CM030015)
known disease mutation at this position, please check HGMD for details (HGMD ID CM030015)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)6.021
4.360.999
(flanking)-2.4090.009
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 increased4139wt: 0.3633 / mu: 0.3942 (marginal change - not scored)wt: CAACCTGGTCTTCTACCTACCGGCTGACAGTGAGCCTCCAG
mu: CAACCTGGTCTTCTACCTACAGGCTGACAGTGAGCCTCCAG		 tacc|GGCT
Acc gained41380.33mu: TCAACCTGGTCTTCTACCTACAGGCTGACAGTGAGCCTCCA ctac|AGGC
distance from splice site 1221
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
22245TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
9797CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
151151DISULFIDBy similarity.might get lost (downstream of altered splice site)
164164CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
165165DISULFIDBy similarity.might get lost (downstream of altered splice site)
246270TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
278299TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
312333TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
334471TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
390390MOD_RESPhosphotyrosine; by Tyr-kinases (By similarity).might get lost (downstream of altered splice site)
472490TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
length of protein N/A
AA sequence altered N/A
position of stopcodon in wt / mu CDS N/A
position (AA) of stopcodon in wt / mu AA sequence N/A
position of stopcodon in wt / mu cDNA N/A
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 300 / 300
chromosome 2
strand 1
last intron/exon boundary 1089
theoretical NMD boundary in CDS 739
length of CDS 972
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 N/A
gDNA position
(for ins/del: last normal base / first normal base)		 4139
chromosomal position
(for ins/del: last normal base / first normal base)		 233394841
original gDNA sequence snippet CAACCTGGTCTTCTACCTACCGGCTGACAGTGAGCCTCCAG
altered gDNA sequence snippet CAACCTGGTCTTCTACCTACAGGCTGACAGTGAGCCTCCAG
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MLKNLETSVS CASPRTWCGS QRLCWRTTMT APSRSPTPAT CLSTTTASCT GCHLPSSAPP
APSLSPISPS TGRTAPSSSG GEKTSVAISV LLAQSVFLLL ISKRLPATSM AIPLIGKFLL
FGMVLVTMVV VICVIVLNIH FRTPSTHVLS EGVKKLFLET LPELLHMSRP AEDGPSPGAL
VRRSSSLGYI SKAEEYFLLK SRSDLMFEKQ SERHGLARRL TTARRPPASS EQAQQELFNE
LKPAVDGANF IVNHMRDQNN YNEEKDSWNR VARTVDRLCL FVVTPVMVVG TAWIFLQGVY
NQPPPQPFPG DPYSYNVQDK RFI*
mutated AA sequence N/A
speed 0.37 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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