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: ENST00000396268
Querying Taster for transcript #2: ENST00000376266
Querying Taster for transcript #3: ENST00000396263
Querying Taster for transcript #4: ENST00000440185
Querying Taster for transcript #5: ENST00000451521
MT speed 0 s - this script 4.281986 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
CCHCR1polymorphism_automatic8.95706110393135e-08simple_aaeE364Dsingle base exchangers130067show file
CCHCR1polymorphism_automatic8.95706110393135e-08simple_aaeE275Dsingle base exchangers130067show file
CCHCR1polymorphism_automatic8.95706110393135e-08simple_aaeE275Dsingle base exchangers130067show file
CCHCR1polymorphism_automatic8.95706110393135e-08simple_aaeE275Dsingle base exchangers130067show file
CCHCR1polymorphism_automatic2.70008010949674e-07simple_aaeE328Dsingle base exchangers130067show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999910429389 (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 CM116423)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr6:31118511T>GN/A show variant in all transcripts   IGV
HGNC symbol CCHCR1
Ensembl transcript ID ENST00000396268
Genbank transcript ID NM_001105564
UniProt peptide Q8TD31
alteration type single base exchange
alteration region CDS
DNA changes c.1092A>C
cDNA.1281A>C
g.7505A>C
AA changes E364D Score: 45 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 364
frameshift no
known variant Reference ID: rs130067
databasehomozygous (G/G)heterozygousallele carriers
1000G1749291103
ExAC32422032123563

known disease mutation at this position, please check HGMD for details (HGMD ID CM116423)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.5560.632
-0.0630.665
(flanking)2.3340.952
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased7502wt: 0.2446 / mu: 0.2576 (marginal change - not scored)wt: CTTCTGGAAACCATG
mu: CTTCTGGACACCATG		 TCTG|gaaa
Donor marginally increased7509wt: 0.7288 / mu: 0.7865 (marginal change - not scored)wt: AAACCATGCAGGTGA
mu: ACACCATGCAGGTGA		 ACCA|tgca
distance from splice site 10
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      364QTWELERQKLLETMQHLQEDRDSL
mutated  all conserved    364KLLDTMQHLQEDRDS
Ptroglodytes  not conserved  ENSPTRG00000017951  278-AWRPYRGAASLCPQHLQEDRDS
Mmulatta  all conserved  ENSMMUG00000015679  209QQLSKVAQQLEQELQQTQESLAS
Fcatus  no alignment  ENSFCAG00000019136  n/a
Mmusculus  all conserved  ENSMUSG00000040312  358ELLDTLKHLKEDRAD
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000024080  268EEQNRERMELSNTVQALEKERNV
protein features
start (aa)end (aa)featuredetails 
344437COILEDPotential.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2616 / 2616
position (AA) of stopcodon in wt / mu AA sequence 872 / 872
position of stopcodon in wt / mu cDNA 2805 / 2805
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 190 / 190
chromosome 6
strand -1
last intron/exon boundary 2681
theoretical NMD boundary in CDS 2441
length of CDS 2616
coding sequence (CDS) position 1092
cDNA position
(for ins/del: last normal base / first normal base)		 1281
gDNA position
(for ins/del: last normal base / first normal base)		 7505
chromosomal position
(for ins/del: last normal base / first normal base)		 31118511
original gDNA sequence snippet GAGCGACAGAAGCTTCTGGAAACCATGCAGGTGAGGGTGCA
altered gDNA sequence snippet GAGCGACAGAAGCTTCTGGACACCATGCAGGTGAGGGTGCA
original cDNA sequence snippet GAGCGACAGAAGCTTCTGGAAACCATGCAGCACTTGCAGGA
altered cDNA sequence snippet GAGCGACAGAAGCTTCTGGACACCATGCAGCACTTGCAGGA
wildtype AA sequence MWPHSAGARP WASTLTGKDP RVMACWCLDG LPSGLAEPWR ELWRWRSRPL HCVPPFSPLA
RSSRDHRNLR RRGNIDGWRQ NLEPSNNVEM FPPSGSTGLI PPSHFQARPL STLPRMAPTW
LSDIPLVQPP GHQDVSERRL DTQRPQVTMW ERDVSSDRQE PGRRGRSWGL EGSQALSQQA
EVIVRQLQEL RRLEEEVRLL RETSLQQKMR LEAQAMELEA LARAEKAGRA EAEGLRAALA
GAEVVRKNLE EGSQRELEEV QRLHQEQLSS LTQAHEEALS SLTSKAEGLE KSLSSLETRR
AGEAKELAEA QREAELLRKQ LSKTQEDLEA QVTLVENLRK YVGEQVPSEV HSQTWELERQ
KLLETMQHLQ EDRDSLHATA ELLQVRVQSL THILALQEEE LTRKVQPSDS LEPEFTRKCQ
SLLNRWREKV FALMVQLKAQ ELEHSDSVKQ LKGQVASLQE KVTSQSQEQA ILQRSLQDKA
AEVEVERMGA KGLQLELSRA QEARRRWQQQ TASAEEQLRL VVNAVSSSQI WLETTMAKVE
GAAAQLPSLN NRLSYAVRKV HTIRGLIARK LALAQLRQES CPLPPPVTDV SLELQQLREE
RNRLDAELQL SARLIQQEVG RAREQGEAER QQLSKVAQQL EQELQQTQES LASLGLQLEV
ARQGQQESTE EAASLRQELT QQQELYGQAL QEKVAEVETR LREQLSDTER RLNEARREHA
KAVVSLRQIQ RRAAQEKERS QELRRLQEEA RKEEGQRLAR RLQELERDKN LMLATLQQEG
LLSRYKQQRL LTVLPSLLDK KKSVVSSPRP PECSASAPVA AAVPTRESIK GSLSVLLDDL
QDLSEAISKE EAVCQGDNLD RCSSSNPQMS S*
mutated AA sequence MWPHSAGARP WASTLTGKDP RVMACWCLDG LPSGLAEPWR ELWRWRSRPL HCVPPFSPLA
RSSRDHRNLR RRGNIDGWRQ NLEPSNNVEM FPPSGSTGLI PPSHFQARPL STLPRMAPTW
LSDIPLVQPP GHQDVSERRL DTQRPQVTMW ERDVSSDRQE PGRRGRSWGL EGSQALSQQA
EVIVRQLQEL RRLEEEVRLL RETSLQQKMR LEAQAMELEA LARAEKAGRA EAEGLRAALA
GAEVVRKNLE EGSQRELEEV QRLHQEQLSS LTQAHEEALS SLTSKAEGLE KSLSSLETRR
AGEAKELAEA QREAELLRKQ LSKTQEDLEA QVTLVENLRK YVGEQVPSEV HSQTWELERQ
KLLDTMQHLQ EDRDSLHATA ELLQVRVQSL THILALQEEE LTRKVQPSDS LEPEFTRKCQ
SLLNRWREKV FALMVQLKAQ ELEHSDSVKQ LKGQVASLQE KVTSQSQEQA ILQRSLQDKA
AEVEVERMGA KGLQLELSRA QEARRRWQQQ TASAEEQLRL VVNAVSSSQI WLETTMAKVE
GAAAQLPSLN NRLSYAVRKV HTIRGLIARK LALAQLRQES CPLPPPVTDV SLELQQLREE
RNRLDAELQL SARLIQQEVG RAREQGEAER QQLSKVAQQL EQELQQTQES LASLGLQLEV
ARQGQQESTE EAASLRQELT QQQELYGQAL QEKVAEVETR LREQLSDTER RLNEARREHA
KAVVSLRQIQ RRAAQEKERS QELRRLQEEA RKEEGQRLAR RLQELERDKN LMLATLQQEG
LLSRYKQQRL LTVLPSLLDK KKSVVSSPRP PECSASAPVA AAVPTRESIK GSLSVLLDDL
QDLSEAISKE EAVCQGDNLD RCSSSNPQMS S*
speed 0.49 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: 0.999999910429389 (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 CM116423)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr6:31118511T>GN/A show variant in all transcripts   IGV
HGNC symbol CCHCR1
Ensembl transcript ID ENST00000396263
Genbank transcript ID N/A
UniProt peptide Q8TD31
alteration type single base exchange
alteration region CDS
DNA changes c.825A>C
cDNA.977A>C
g.7505A>C
AA changes E275D Score: 45 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 275
frameshift no
known variant Reference ID: rs130067
databasehomozygous (G/G)heterozygousallele carriers
1000G1749291103
ExAC32422032123563

known disease mutation at this position, please check HGMD for details (HGMD ID CM116423)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.5560.632
-0.0630.665
(flanking)2.3340.952
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased7502wt: 0.2446 / mu: 0.2576 (marginal change - not scored)wt: CTTCTGGAAACCATG
mu: CTTCTGGACACCATG		 TCTG|gaaa
Donor marginally increased7509wt: 0.7288 / mu: 0.7865 (marginal change - not scored)wt: AAACCATGCAGGTGA
mu: ACACCATGCAGGTGA		 ACCA|tgca
distance from splice site 10
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      275QTWELERQKLLETMQHLQEDRDSL
mutated  all conserved    275QTWELERQKLLDTMQHLQEDRDS
Ptroglodytes  not conserved  ENSPTRG00000017951  278VAWRPYRGAASLCPQHLQEDRDS
Mmulatta  all conserved  ENSMMUG00000015679  209QQLSKVAQQLEQELQQTQESLAS
Fcatus  no alignment  ENSFCAG00000019136  n/a
Mmusculus  all conserved  ENSMUSG00000040312  358QEWELERKELLDTLKHLKEDRAD
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000024080  268EEQNRERMELSNTVQALEKERNV
protein features
start (aa)end (aa)featuredetails 
111303COILEDPotential.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2190 / 2190
position (AA) of stopcodon in wt / mu AA sequence 730 / 730
position of stopcodon in wt / mu cDNA 2342 / 2342
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 153 / 153
chromosome 6
strand -1
last intron/exon boundary 2218
theoretical NMD boundary in CDS 2015
length of CDS 2190
coding sequence (CDS) position 825
cDNA position
(for ins/del: last normal base / first normal base)		 977
gDNA position
(for ins/del: last normal base / first normal base)		 7505
chromosomal position
(for ins/del: last normal base / first normal base)		 31118511
original gDNA sequence snippet GAGCGACAGAAGCTTCTGGAAACCATGCAGGTGAGGGTGCA
altered gDNA sequence snippet GAGCGACAGAAGCTTCTGGACACCATGCAGGTGAGGGTGCA
original cDNA sequence snippet GAGCGACAGAAGCTTCTGGAAACCATGCAGCACTTGCAGGA
altered cDNA sequence snippet GAGCGACAGAAGCTTCTGGACACCATGCAGCACTTGCAGGA
wildtype AA sequence MFPPSGSTGL IPPSHFQARP LSTLPRMAPT WLSDIPLVQP PGHQDVSERR LDTQRPQVTM
WERDVSSDRQ EPGRRGRSWG LEGSQALSQQ AEVIVRQLQE LRRLEEEVRL LRETSLQQKM
RLEAQAMELE ALARAEKAGR AEAEGLRAAL AGAEVVRKNL EEGSQRELEE VQRLHQEQLS
SLTQAHEEAL SSLTSKAEGL EKSLSSLETR RAGEAKELAE AQREAELLRK QLSKTQEDLE
AQVTLVENLR KYVGEQVPSE VHSQTWELER QKLLETMQHL QEDRDSLHAT AELLQVRVQS
LTHILALQEE ELTRKVQPSD SLEPEFTRKC QSLLNRWREK VFALMVQLKA QELEHSDSVK
QLKGQVASLQ EKVTSQSQEQ AILQRSLQDK AAEVEVERMG AKGLQLELSR AQEARRRWQQ
QTASAEEQLR LVVNAVSSCP LPPPVTDVSL ELQQLREERN RLDAELQLSA RLIQQEVGRA
REQGEAERQQ LSKVAQQLEQ ELQQTQESLA SLGLQLEVAR QGQQESTEEA ASLRQELTQQ
QELYGQALQE KVAEVETRLR EQLSDTERRL NEARREHAKA VVSLRQIQRR AAQEKERSQE
LRRLQEEARK EEGQRLARRL QELERDKNLM LATLQQEGLL SRYKQQRLLT VLPSLLDKKK
SVVSSPRPPE CSASAPVAAA VPTRESIKGS LSVLLDDLQD LSEAISKEEA VCQGDNLDRC
SSSNPQMSS*
mutated AA sequence MFPPSGSTGL IPPSHFQARP LSTLPRMAPT WLSDIPLVQP PGHQDVSERR LDTQRPQVTM
WERDVSSDRQ EPGRRGRSWG LEGSQALSQQ AEVIVRQLQE LRRLEEEVRL LRETSLQQKM
RLEAQAMELE ALARAEKAGR AEAEGLRAAL AGAEVVRKNL EEGSQRELEE VQRLHQEQLS
SLTQAHEEAL SSLTSKAEGL EKSLSSLETR RAGEAKELAE AQREAELLRK QLSKTQEDLE
AQVTLVENLR KYVGEQVPSE VHSQTWELER QKLLDTMQHL QEDRDSLHAT AELLQVRVQS
LTHILALQEE ELTRKVQPSD SLEPEFTRKC QSLLNRWREK VFALMVQLKA QELEHSDSVK
QLKGQVASLQ EKVTSQSQEQ AILQRSLQDK AAEVEVERMG AKGLQLELSR AQEARRRWQQ
QTASAEEQLR LVVNAVSSCP LPPPVTDVSL ELQQLREERN RLDAELQLSA RLIQQEVGRA
REQGEAERQQ LSKVAQQLEQ ELQQTQESLA SLGLQLEVAR QGQQESTEEA ASLRQELTQQ
QELYGQALQE KVAEVETRLR EQLSDTERRL NEARREHAKA VVSLRQIQRR AAQEKERSQE
LRRLQEEARK EEGQRLARRL QELERDKNLM LATLQQEGLL SRYKQQRLLT VLPSLLDKKK
SVVSSPRPPE CSASAPVAAA VPTRESIKGS LSVLLDDLQD LSEAISKEEA VCQGDNLDRC
SSSNPQMSS*
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: 0.999999910429389 (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 CM116423)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr6:31118511T>GN/A show variant in all transcripts   IGV
HGNC symbol CCHCR1
Ensembl transcript ID ENST00000376266
Genbank transcript ID NM_019052
UniProt peptide Q8TD31
alteration type single base exchange
alteration region CDS
DNA changes c.825A>C
cDNA.948A>C
g.7505A>C
AA changes E275D Score: 45 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 275
frameshift no
known variant Reference ID: rs130067
databasehomozygous (G/G)heterozygousallele carriers
1000G1749291103
ExAC32422032123563

known disease mutation at this position, please check HGMD for details (HGMD ID CM116423)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.5560.632
-0.0630.665
(flanking)2.3340.952
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased7502wt: 0.2446 / mu: 0.2576 (marginal change - not scored)wt: CTTCTGGAAACCATG
mu: CTTCTGGACACCATG		 TCTG|gaaa
Donor marginally increased7509wt: 0.7288 / mu: 0.7865 (marginal change - not scored)wt: AAACCATGCAGGTGA
mu: ACACCATGCAGGTGA		 ACCA|tgca
distance from splice site 10
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      275QTWELERQKLLETMQHLQEDRDSL
mutated  all conserved    275QTWELERQKLLDTMQHLQEDRDS
Ptroglodytes  not conserved  ENSPTRG00000017951  278-AWRPYRGAASLCPQHLQEDRDS
Mmulatta  all conserved  ENSMMUG00000015679  209QQLSKVAQQLEQELQQTQESLAS
Fcatus  no alignment  ENSFCAG00000019136  n/a
Mmusculus  all conserved  ENSMUSG00000040312  358QEWELERKELLDTLKHLKEDRAD
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000024080  268EEQNRERMELSNTVQALEKERNV
protein features
start (aa)end (aa)featuredetails 
111303COILEDPotential.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2349 / 2349
position (AA) of stopcodon in wt / mu AA sequence 783 / 783
position of stopcodon in wt / mu cDNA 2472 / 2472
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 124 / 124
chromosome 6
strand -1
last intron/exon boundary 2348
theoretical NMD boundary in CDS 2174
length of CDS 2349
coding sequence (CDS) position 825
cDNA position
(for ins/del: last normal base / first normal base)		 948
gDNA position
(for ins/del: last normal base / first normal base)		 7505
chromosomal position
(for ins/del: last normal base / first normal base)		 31118511
original gDNA sequence snippet GAGCGACAGAAGCTTCTGGAAACCATGCAGGTGAGGGTGCA
altered gDNA sequence snippet GAGCGACAGAAGCTTCTGGACACCATGCAGGTGAGGGTGCA
original cDNA sequence snippet GAGCGACAGAAGCTTCTGGAAACCATGCAGCACTTGCAGGA
altered cDNA sequence snippet GAGCGACAGAAGCTTCTGGACACCATGCAGCACTTGCAGGA
wildtype AA sequence MFPPSGSTGL IPPSHFQARP LSTLPRMAPT WLSDIPLVQP PGHQDVSERR LDTQRPQVTM
WERDVSSDRQ EPGRRGRSWG LEGSQALSQQ AEVIVRQLQE LRRLEEEVRL LRETSLQQKM
RLEAQAMELE ALARAEKAGR AEAEGLRAAL AGAEVVRKNL EEGSQRELEE VQRLHQEQLS
SLTQAHEEAL SSLTSKAEGL EKSLSSLETR RAGEAKELAE AQREAELLRK QLSKTQEDLE
AQVTLVENLR KYVGEQVPSE VHSQTWELER QKLLETMQHL QEDRDSLHAT AELLQVRVQS
LTHILALQEE ELTRKVQPSD SLEPEFTRKC QSLLNRWREK VFALMVQLKA QELEHSDSVK
QLKGQVASLQ EKVTSQSQEQ AILQRSLQDK AAEVEVERMG AKGLQLELSR AQEARRRWQQ
QTASAEEQLR LVVNAVSSSQ IWLETTMAKV EGAAAQLPSL NNRLSYAVRK VHTIRGLIAR
KLALAQLRQE SCPLPPPVTD VSLELQQLRE ERNRLDAELQ LSARLIQQEV GRAREQGEAE
RQQLSKVAQQ LEQELQQTQE SLASLGLQLE VARQGQQEST EEAASLRQEL TQQQELYGQA
LQEKVAEVET RLREQLSDTE RRLNEARREH AKAVVSLRQI QRRAAQEKER SQELRRLQEE
ARKEEGQRLA RRLQELERDK NLMLATLQQE GLLSRYKQQR LLTVLPSLLD KKKSVVSSPR
PPECSASAPV AAAVPTRESI KGSLSVLLDD LQDLSEAISK EEAVCQGDNL DRCSSSNPQM
SS*
mutated AA sequence MFPPSGSTGL IPPSHFQARP LSTLPRMAPT WLSDIPLVQP PGHQDVSERR LDTQRPQVTM
WERDVSSDRQ EPGRRGRSWG LEGSQALSQQ AEVIVRQLQE LRRLEEEVRL LRETSLQQKM
RLEAQAMELE ALARAEKAGR AEAEGLRAAL AGAEVVRKNL EEGSQRELEE VQRLHQEQLS
SLTQAHEEAL SSLTSKAEGL EKSLSSLETR RAGEAKELAE AQREAELLRK QLSKTQEDLE
AQVTLVENLR KYVGEQVPSE VHSQTWELER QKLLDTMQHL QEDRDSLHAT AELLQVRVQS
LTHILALQEE ELTRKVQPSD SLEPEFTRKC QSLLNRWREK VFALMVQLKA QELEHSDSVK
QLKGQVASLQ EKVTSQSQEQ AILQRSLQDK AAEVEVERMG AKGLQLELSR AQEARRRWQQ
QTASAEEQLR LVVNAVSSSQ IWLETTMAKV EGAAAQLPSL NNRLSYAVRK VHTIRGLIAR
KLALAQLRQE SCPLPPPVTD VSLELQQLRE ERNRLDAELQ LSARLIQQEV GRAREQGEAE
RQQLSKVAQQ LEQELQQTQE SLASLGLQLE VARQGQQEST EEAASLRQEL TQQQELYGQA
LQEKVAEVET RLREQLSDTE RRLNEARREH AKAVVSLRQI QRRAAQEKER SQELRRLQEE
ARKEEGQRLA RRLQELERDK NLMLATLQQE GLLSRYKQQR LLTVLPSLLD KKKSVVSSPR
PPECSASAPV AAAVPTRESI KGSLSVLLDD LQDLSEAISK EEAVCQGDNL DRCSSSNPQM
SS*
speed 0.53 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: 0.999999910429389 (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 CM116423)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr6:31118511T>GN/A show variant in all transcripts   IGV
HGNC symbol CCHCR1
Ensembl transcript ID ENST00000440185
Genbank transcript ID N/A
UniProt peptide Q8TD31
alteration type single base exchange
alteration region CDS
DNA changes c.825A>C
cDNA.968A>C
g.7505A>C
AA changes E275D Score: 45 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 275
frameshift no
known variant Reference ID: rs130067
databasehomozygous (G/G)heterozygousallele carriers
1000G1749291103
ExAC32422032123563

known disease mutation at this position, please check HGMD for details (HGMD ID CM116423)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.5560.632
-0.0630.665
(flanking)2.3340.952
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased7502wt: 0.2446 / mu: 0.2576 (marginal change - not scored)wt: CTTCTGGAAACCATG
mu: CTTCTGGACACCATG		 TCTG|gaaa
Donor marginally increased7509wt: 0.7288 / mu: 0.7865 (marginal change - not scored)wt: AAACCATGCAGGTGA
mu: ACACCATGCAGGTGA		 ACCA|tgca
distance from splice site 10
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      275QTWELERQKLLETMQHLQEDRDSL
mutated  all conserved    275QTWELERQKLLDTMQHLQEDRDS
Ptroglodytes  not conserved  ENSPTRG00000017951  278-AWRPYRGAASLCPQHLQEDRDS
Mmulatta  all conserved  ENSMMUG00000015679  209QQLSKVAQQLEQELQQTQESLAS
Fcatus  no alignment  ENSFCAG00000019136  n/a
Mmusculus  all conserved  ENSMUSG00000040312  358QEWELERKELLDTLKHLKEDRAD
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000024080  268EEQNRERMELSNTVQALEKERNV
protein features
start (aa)end (aa)featuredetails 
111303COILEDPotential.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2307 / 2307
position (AA) of stopcodon in wt / mu AA sequence 769 / 769
position of stopcodon in wt / mu cDNA 2450 / 2450
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 144 / 144
chromosome 6
strand -1
last intron/exon boundary 2326
theoretical NMD boundary in CDS 2132
length of CDS 2307
coding sequence (CDS) position 825
cDNA position
(for ins/del: last normal base / first normal base)		 968
gDNA position
(for ins/del: last normal base / first normal base)		 7505
chromosomal position
(for ins/del: last normal base / first normal base)		 31118511
original gDNA sequence snippet GAGCGACAGAAGCTTCTGGAAACCATGCAGGTGAGGGTGCA
altered gDNA sequence snippet GAGCGACAGAAGCTTCTGGACACCATGCAGGTGAGGGTGCA
original cDNA sequence snippet GAGCGACAGAAGCTTCTGGAAACCATGCAGCACTTGCAGGA
altered cDNA sequence snippet GAGCGACAGAAGCTTCTGGACACCATGCAGCACTTGCAGGA
wildtype AA sequence MFPPSGSTGL IPPSHFQARP LSTLPRMAPT WLSDIPLVQP PGHQDVSERR LDTQRPQVTM
WERDVSSDRQ EPGRRGRSWG LEGSQALSQQ AEVIVRQLQE LRRLEEEVRL LRETSLQQKM
RLEAQAMELE ALARAEKAGR AEAEGLRAAL AGAEVVRKNL EEGSQRELEE VQRLHQEQLS
SLTQAHEEAL SSLTSKAEGL EKSLSSLETR RAGEAKELAE AQREAELLRK QLSKTQEDLE
AQVTLVENLR KYVGEQVPSE VHSQTWELER QKLLETMQHL QEDRDSLHAT AELLQVRVQS
LTHILALQEE ELTRKVQPSD SLEPEFTRKC QSLLNRWREK VFALMVQLKA QELEHSDSVK
QLKGQVASLQ EKVTSQSQEQ AILQRSLQDK AAEVEVERMG AKGLQLELSR AQEARRRWQQ
QTASAEEQLR LVVNAVSSSQ IWLETTMAKV EGAAAQLPSL NNRLSYAVRK VHTIRGLIAR
KLALAQLRQE SCPLPPPVTD VSLELQQLRE ERNRLDAELQ LSARLIQQEV GRAREQGEAE
RQQLSKVAQQ LEQELQQTQE SLASLGLQLE VARQGQQEST EEAASLRQEL TQQQELYGQA
LQEKVAEVET RLREQLSDTE RRLNEARREH AKAVVSLRQI QRRAAQEKER SQELRRLQEE
ARKEEGQRLA RRLQELERDK NLMLQRLLTV LPSLLDKKKS VVSSPRPPEC SASAPVAAAV
PTRESIKGSL SVLLDDLQDL SEAISKEEAV CQGDNLDRCS SSNPQMSS*
mutated AA sequence MFPPSGSTGL IPPSHFQARP LSTLPRMAPT WLSDIPLVQP PGHQDVSERR LDTQRPQVTM
WERDVSSDRQ EPGRRGRSWG LEGSQALSQQ AEVIVRQLQE LRRLEEEVRL LRETSLQQKM
RLEAQAMELE ALARAEKAGR AEAEGLRAAL AGAEVVRKNL EEGSQRELEE VQRLHQEQLS
SLTQAHEEAL SSLTSKAEGL EKSLSSLETR RAGEAKELAE AQREAELLRK QLSKTQEDLE
AQVTLVENLR KYVGEQVPSE VHSQTWELER QKLLDTMQHL QEDRDSLHAT AELLQVRVQS
LTHILALQEE ELTRKVQPSD SLEPEFTRKC QSLLNRWREK VFALMVQLKA QELEHSDSVK
QLKGQVASLQ EKVTSQSQEQ AILQRSLQDK AAEVEVERMG AKGLQLELSR AQEARRRWQQ
QTASAEEQLR LVVNAVSSSQ IWLETTMAKV EGAAAQLPSL NNRLSYAVRK VHTIRGLIAR
KLALAQLRQE SCPLPPPVTD VSLELQQLRE ERNRLDAELQ LSARLIQQEV GRAREQGEAE
RQQLSKVAQQ LEQELQQTQE SLASLGLQLE VARQGQQEST EEAASLRQEL TQQQELYGQA
LQEKVAEVET RLREQLSDTE RRLNEARREH AKAVVSLRQI QRRAAQEKER SQELRRLQEE
ARKEEGQRLA RRLQELERDK NLMLQRLLTV LPSLLDKKKS VVSSPRPPEC SASAPVAAAV
PTRESIKGSL SVLLDDLQDL SEAISKEEAV CQGDNLDRCS SSNPQMSS*
speed 0.51 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: 0.999999729991989 (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 CM116423)
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr6:31118511T>GN/A show variant in all transcripts   IGV
HGNC symbol CCHCR1
Ensembl transcript ID ENST00000451521
Genbank transcript ID NM_001105563
UniProt peptide Q8TD31
alteration type single base exchange
alteration region CDS
DNA changes c.984A>C
cDNA.991A>C
g.7505A>C
AA changes E328D Score: 45 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 328
frameshift no
known variant Reference ID: rs130067
databasehomozygous (G/G)heterozygousallele carriers
1000G1749291103
ExAC32422032123563

known disease mutation at this position, please check HGMD for details (HGMD ID CM116423)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.5560.632
-0.0630.665
(flanking)2.3340.952
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased7502wt: 0.2446 / mu: 0.2576 (marginal change - not scored)wt: CTTCTGGAAACCATG
mu: CTTCTGGACACCATG		 TCTG|gaaa
Donor marginally increased7509wt: 0.7288 / mu: 0.7865 (marginal change - not scored)wt: AAACCATGCAGGTGA
mu: ACACCATGCAGGTGA		 ACCA|tgca
distance from splice site 10
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      328QTWELERQKLLETMQHLQEDRDSL
mutated  all conserved    328QTWELERQKLLDTMQHLQEDRDS
Ptroglodytes  not conserved  ENSPTRG00000017951  278RPYRGAASLCPQHLQEDRDS
Mmulatta  all conserved  ENSMMUG00000015679  209QQLSKVAQQLEQELQQTQESLAS
Fcatus  no alignment  ENSFCAG00000019136  n/a
Mmusculus  all conserved  ENSMUSG00000040312  358ELLDTLKHLKEDRAD
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000024080  268EEQNRERMELSNTVQALEKERNV
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2508 / 2508
position (AA) of stopcodon in wt / mu AA sequence 836 / 836
position of stopcodon in wt / mu cDNA 2515 / 2515
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 8 / 8
chromosome 6
strand -1
last intron/exon boundary 2391
theoretical NMD boundary in CDS 2333
length of CDS 2508
coding sequence (CDS) position 984
cDNA position
(for ins/del: last normal base / first normal base)		 991
gDNA position
(for ins/del: last normal base / first normal base)		 7505
chromosomal position
(for ins/del: last normal base / first normal base)		 31118511
original gDNA sequence snippet GAGCGACAGAAGCTTCTGGAAACCATGCAGGTGAGGGTGCA
altered gDNA sequence snippet GAGCGACAGAAGCTTCTGGACACCATGCAGGTGAGGGTGCA
original cDNA sequence snippet GAGCGACAGAAGCTTCTGGAAACCATGCAGCACTTGCAGGA
altered cDNA sequence snippet GAGCGACAGAAGCTTCTGGACACCATGCAGCACTTGCAGGA
wildtype AA sequence MWPHSAGARP WASTLTGKDP RVMACWCLDG LPSGLAEPWR ELWRWRSRPL HCVPPFSPLA
RSSRDHRNLR RRGNIDGWRQ NLEPSNNVEM FPPSGHQDVS ERRLDTQRPQ VTMWERDVSS
DRQEPGRRGR SWGLEGSQAL SQQAEVIVRQ LQELRRLEEE VRLLRETSLQ QKMRLEAQAM
ELEALARAEK AGRAEAEGLR AALAGAEVVR KNLEEGSQRE LEEVQRLHQE QLSSLTQAHE
EALSSLTSKA EGLEKSLSSL ETRRAGEAKE LAEAQREAEL LRKQLSKTQE DLEAQVTLVE
NLRKYVGEQV PSEVHSQTWE LERQKLLETM QHLQEDRDSL HATAELLQVR VQSLTHILAL
QEEELTRKVQ PSDSLEPEFT RKCQSLLNRW REKVFALMVQ LKAQELEHSD SVKQLKGQVA
SLQEKVTSQS QEQAILQRSL QDKAAEVEVE RMGAKGLQLE LSRAQEARRR WQQQTASAEE
QLRLVVNAVS SSQIWLETTM AKVEGAAAQL PSLNNRLSYA VRKVHTIRGL IARKLALAQL
RQESCPLPPP VTDVSLELQQ LREERNRLDA ELQLSARLIQ QEVGRAREQG EAERQQLSKV
AQQLEQELQQ TQESLASLGL QLEVARQGQQ ESTEEAASLR QELTQQQELY GQALQEKVAE
VETRLREQLS DTERRLNEAR REHAKAVVSL RQIQRRAAQE KERSQELRRL QEEARKEEGQ
RLARRLQELE RDKNLMLATL QQEGLLSRYK QQRLLTVLPS LLDKKKSVVS SPRPPECSAS
APVAAAVPTR ESIKGSLSVL LDDLQDLSEA ISKEEAVCQG DNLDRCSSSN PQMSS*
mutated AA sequence MWPHSAGARP WASTLTGKDP RVMACWCLDG LPSGLAEPWR ELWRWRSRPL HCVPPFSPLA
RSSRDHRNLR RRGNIDGWRQ NLEPSNNVEM FPPSGHQDVS ERRLDTQRPQ VTMWERDVSS
DRQEPGRRGR SWGLEGSQAL SQQAEVIVRQ LQELRRLEEE VRLLRETSLQ QKMRLEAQAM
ELEALARAEK AGRAEAEGLR AALAGAEVVR KNLEEGSQRE LEEVQRLHQE QLSSLTQAHE
EALSSLTSKA EGLEKSLSSL ETRRAGEAKE LAEAQREAEL LRKQLSKTQE DLEAQVTLVE
NLRKYVGEQV PSEVHSQTWE LERQKLLDTM QHLQEDRDSL HATAELLQVR VQSLTHILAL
QEEELTRKVQ PSDSLEPEFT RKCQSLLNRW REKVFALMVQ LKAQELEHSD SVKQLKGQVA
SLQEKVTSQS QEQAILQRSL QDKAAEVEVE RMGAKGLQLE LSRAQEARRR WQQQTASAEE
QLRLVVNAVS SSQIWLETTM AKVEGAAAQL PSLNNRLSYA VRKVHTIRGL IARKLALAQL
RQESCPLPPP VTDVSLELQQ LREERNRLDA ELQLSARLIQ QEVGRAREQG EAERQQLSKV
AQQLEQELQQ TQESLASLGL QLEVARQGQQ ESTEEAASLR QELTQQQELY GQALQEKVAE
VETRLREQLS DTERRLNEAR REHAKAVVSL RQIQRRAAQE KERSQELRRL QEEARKEEGQ
RLARRLQELE RDKNLMLATL QQEGLLSRYK QQRLLTVLPS LLDKKKSVVS SPRPPECSAS
APVAAAVPTR ESIKGSLSVL LDDLQDLSEA ISKEEAVCQG DNLDRCSSSN PQMSS*
speed 0.85 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