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 11 transcript(s)...
Querying Taster for transcript #1: ENST00000349714
Querying Taster for transcript #2: ENST00000359226
Querying Taster for transcript #3: ENST00000374384
Querying Taster for transcript #4: ENST00000374380
Querying Taster for transcript #5: ENST00000374385
Querying Taster for transcript #6: ENST00000397554
Querying Taster for transcript #7: ENST00000407996
Querying Taster for transcript #8: ENST00000374377
Querying Taster for transcript #9: ENST00000397556
Querying Taster for transcript #10: ENST00000540457
Querying Taster for transcript #11: ENST00000542501
MT speed 0 s - this script 4.35286 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
UQCC1polymorphism_automatic4.34310365449164e-11simple_aaeaffectedR51Qsingle base exchangers4911494show file
UQCC1polymorphism_automatic4.34310365449164e-11simple_aaeaffectedR51Qsingle base exchangers4911494show file
UQCC1polymorphism_automatic4.34310365449164e-11simple_aaeaffectedR51Qsingle base exchangers4911494show file
UQCC1polymorphism_automatic4.34310365449164e-11simple_aaeaffectedR51Qsingle base exchangers4911494show file
UQCC1polymorphism_automatic4.34310365449164e-11simple_aaeaffectedR51Qsingle base exchangers4911494show file
UQCC1polymorphism_automatic4.34310365449164e-11simple_aaeaffectedR51Qsingle base exchangers4911494show file
UQCC1polymorphism_automatic4.19087986536226e-10simple_aaeaffectedR51Qsingle base exchangers4911494show file
UQCC1polymorphism_automatic3.80477901329446e-05without_aaeaffectedsingle base exchangers4911494show file
UQCC1polymorphism_automatic3.80477901329446e-05without_aaeaffectedsingle base exchangers4911494show file
UQCC1polymorphism_automatic3.80477901329446e-05without_aaeaffectedsingle base exchangers4911494show file
UQCC1polymorphism_automatic3.80477901329446e-05without_aaeaffectedsingle base exchangers4911494show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999956569 (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) chr20:33971914C>TN/A show variant in all transcripts   IGV
HGNC symbol UQCC1
Ensembl transcript ID ENST00000349714
Genbank transcript ID N/A
UniProt peptide Q9NVA1
alteration type single base exchange
alteration region CDS
DNA changes c.152G>A
cDNA.152G>A
g.28031G>A
AA changes R51Q Score: 43 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 51
frameshift no
known variant Reference ID: rs4911494
databasehomozygous (T/T)heterozygousallele carriers
1000G79710481845
ExAC20877-898711890
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)2.4720.005
-1.4860
(flanking)-0.040
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased28031wt: 0.29 / mu: 0.82wt: GTCCCGAGCATGTGG
mu: GTCCCAAGCATGTGG		 CCCG|agca
Donor increased28036wt: 0.41 / mu: 0.56wt: GAGCATGTGGTGGAT
mu: AAGCATGTGGTGGAT		 GCAT|gtgg
Donor increased28027wt: 0.46 / mu: 0.87wt: GCCAGTCCCGAGCAT
mu: GCCAGTCCCAAGCAT		 CAGT|cccg
distance from splice site 23
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      51RTSQWPQMSQSRACGGSEQIPGID
mutated  all conserved    51RTSQWPQMSQSQACGGSEQIP
Ptroglodytes  all identical  ENSPTRG00000013438  51GTSQWPQMSQSRACGGSEQIP
Mmulatta  all identical  ENSMMUG00000010403  51GTSQWPQMSQSRVCG-SEQIP
Fcatus  not conserved  ENSFCAG00000006432  41GTFQWPQISQSLACGGSEQIPGI
Mmusculus  all identical  ENSMUSG00000005882  51STSQWLQKNQSRVCLGSEQTV
Ggallus  all conserved  ENSGALG00000001799  43GIFQRCKTGQFQLPKACGGLIEANGA
Trubripes  no homologue    
Drerio  no alignment  ENSDARG00000068176  n/a
Dmelanogaster  no alignment  FBgn0035722  n/a
Celegans  no alignment  C35D10.5  n/a
Xtropicalis  no alignment  ENSXETG00000019787  n/a
protein features
start (aa)end (aa)featuredetails 
134134CONFLICTF -> L (in Ref. 2; BAB14217 and 4; BC008871).might get lost (downstream of altered splice site)
135136CONFLICTLR -> MG (in Ref. 2; BAB14217).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 819 / 819
position (AA) of stopcodon in wt / mu AA sequence 273 / 273
position of stopcodon in wt / mu cDNA 819 / 819
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 1 / 1
chromosome 20
strand -1
last intron/exon boundary 685
theoretical NMD boundary in CDS 634
length of CDS 819
coding sequence (CDS) position 152
cDNA position
(for ins/del: last normal base / first normal base)		 152
gDNA position
(for ins/del: last normal base / first normal base)		 28031
chromosomal position
(for ins/del: last normal base / first normal base)		 33971914
original gDNA sequence snippet GCCCCAGATGAGCCAGTCCCGAGCATGTGGTGGATCAGAAC
altered gDNA sequence snippet GCCCCAGATGAGCCAGTCCCAAGCATGTGGTGGATCAGAAC
original cDNA sequence snippet GCCCCAGATGAGCCAGTCCCGAGCATGTGGTGGATCAGAAC
altered cDNA sequence snippet GCCCCAGATGAGCCAGTCCCAAGCATGTGGTGGATCAGAAC
wildtype AA sequence MALLVRVLRN QTSISQWVPV CSRLIPVSPT QGQGDRALSR TSQWPQMSQS RACGGSEQIP
GIDIQLNRKY HTTRKLSTTK DSPQPVEEKV GAFTKIIEAM GFTGPLKYRC QMPDTFNSWF
LITLLHVWMC LVRMKQEGRS GKYMCRIIVH FMWEDVQQRG RVMGVNPYIL KKNMILMTNH
FYAAILGYDE GILSDDHGLA AALWRTFFNR KCEDPRHLEL LVEYVRKQIQ YLDSMNGEDL
LLTGEVSWRP LVEKNPQSIL KPHSPTYNDE GL*
mutated AA sequence MALLVRVLRN QTSISQWVPV CSRLIPVSPT QGQGDRALSR TSQWPQMSQS QACGGSEQIP
GIDIQLNRKY HTTRKLSTTK DSPQPVEEKV GAFTKIIEAM GFTGPLKYRC QMPDTFNSWF
LITLLHVWMC LVRMKQEGRS GKYMCRIIVH FMWEDVQQRG RVMGVNPYIL KKNMILMTNH
FYAAILGYDE GILSDDHGLA AALWRTFFNR KCEDPRHLEL LVEYVRKQIQ YLDSMNGEDL
LLTGEVSWRP LVEKNPQSIL KPHSPTYNDE GL*
speed 0.22 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: 0.999999999956569 (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) chr20:33971914C>TN/A show variant in all transcripts   IGV
HGNC symbol UQCC1
Ensembl transcript ID ENST00000359226
Genbank transcript ID N/A
UniProt peptide Q9NVA1
alteration type single base exchange
alteration region CDS
DNA changes c.152G>A
cDNA.159G>A
g.28031G>A
AA changes R51Q Score: 43 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 51
frameshift no
known variant Reference ID: rs4911494
databasehomozygous (T/T)heterozygousallele carriers
1000G79710481845
ExAC20877-898711890
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)2.4720.005
-1.4860
(flanking)-0.040
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased28031wt: 0.29 / mu: 0.82wt: GTCCCGAGCATGTGG
mu: GTCCCAAGCATGTGG		 CCCG|agca
Donor increased28036wt: 0.41 / mu: 0.56wt: GAGCATGTGGTGGAT
mu: AAGCATGTGGTGGAT		 GCAT|gtgg
Donor increased28027wt: 0.46 / mu: 0.87wt: GCCAGTCCCGAGCAT
mu: GCCAGTCCCAAGCAT		 CAGT|cccg
distance from splice site 23
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      51RTSQWPQMSQSRACGGSEQIPGID
mutated  all conserved    51RTSQWPQMSQSQACGGSEQIP
Ptroglodytes  all identical  ENSPTRG00000013438  51GTSQWPQMSQSRACGGSEQIP
Mmulatta  all identical  ENSMMUG00000010403  51GTSQWPQMSQSRVCG-SEQIP
Fcatus  not conserved  ENSFCAG00000006432  41GTFQWPQISQSLACGGSEQIPGI
Mmusculus  all identical  ENSMUSG00000005882  51STSQWLQKNQSRVCLGSEQTV
Ggallus  all conserved  ENSGALG00000001799  43GIFQRCKTGQFQLPKACGGLIEANGA
Trubripes  no homologue    
Drerio  no alignment  ENSDARG00000068176  n/a
Dmelanogaster  no alignment  FBgn0035722  n/a
Celegans  no alignment  C35D10.5  n/a
Xtropicalis  no alignment  ENSXETG00000019787  n/a
protein features
start (aa)end (aa)featuredetails 
134134CONFLICTF -> L (in Ref. 2; BAB14217 and 4; BC008871).might get lost (downstream of altered splice site)
135136CONFLICTLR -> MG (in Ref. 2; BAB14217).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 660 / 660
position (AA) of stopcodon in wt / mu AA sequence 220 / 220
position of stopcodon in wt / mu cDNA 667 / 667
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 20
strand -1
last intron/exon boundary 533
theoretical NMD boundary in CDS 475
length of CDS 660
coding sequence (CDS) position 152
cDNA position
(for ins/del: last normal base / first normal base)		 159
gDNA position
(for ins/del: last normal base / first normal base)		 28031
chromosomal position
(for ins/del: last normal base / first normal base)		 33971914
original gDNA sequence snippet GCCCCAGATGAGCCAGTCCCGAGCATGTGGTGGATCAGAAC
altered gDNA sequence snippet GCCCCAGATGAGCCAGTCCCAAGCATGTGGTGGATCAGAAC
original cDNA sequence snippet GCCCCAGATGAGCCAGTCCCGAGCATGTGGTGGATCAGAAC
altered cDNA sequence snippet GCCCCAGATGAGCCAGTCCCAAGCATGTGGTGGATCAGAAC
wildtype AA sequence MALLVRVLRN QTSISQWVPV CSRLIPVSPT QGQGDRALSR TSQWPQMSQS RACGGSEQIP
GIDIQLNRKY HTTRKLSTTK DSPQPVEEKV GAFTKIIEAM GFTGPLKYSK WVNPYILKKN
MILMTNHFYA AILGYDEGIL SDDHGLAAAL WRTFFNRKCE DPRHLELLVE YVRKQIQYLD
SMNGEDLLLT GEVSWRPLVE KNPQSILKPH SPTYNDEGL*
mutated AA sequence MALLVRVLRN QTSISQWVPV CSRLIPVSPT QGQGDRALSR TSQWPQMSQS QACGGSEQIP
GIDIQLNRKY HTTRKLSTTK DSPQPVEEKV GAFTKIIEAM GFTGPLKYSK WVNPYILKKN
MILMTNHFYA AILGYDEGIL SDDHGLAAAL WRTFFNRKCE DPRHLELLVE YVRKQIQYLD
SMNGEDLLLT GEVSWRPLVE KNPQSILKPH SPTYNDEGL*
speed 0.24 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: 0.999999999956569 (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) chr20:33971914C>TN/A show variant in all transcripts   IGV
HGNC symbol UQCC1
Ensembl transcript ID ENST00000374384
Genbank transcript ID NM_199487
UniProt peptide Q9NVA1
alteration type single base exchange
alteration region CDS
DNA changes c.152G>A
cDNA.162G>A
g.28031G>A
AA changes R51Q Score: 43 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 51
frameshift no
known variant Reference ID: rs4911494
databasehomozygous (T/T)heterozygousallele carriers
1000G79710481845
ExAC20877-898711890
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)2.4720.005
-1.4860
(flanking)-0.040
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased28031wt: 0.29 / mu: 0.82wt: GTCCCGAGCATGTGG
mu: GTCCCAAGCATGTGG		 CCCG|agca
Donor increased28036wt: 0.41 / mu: 0.56wt: GAGCATGTGGTGGAT
mu: AAGCATGTGGTGGAT		 GCAT|gtgg
Donor increased28027wt: 0.46 / mu: 0.87wt: GCCAGTCCCGAGCAT
mu: GCCAGTCCCAAGCAT		 CAGT|cccg
distance from splice site 23
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      51RTSQWPQMSQSRACGGSEQIPGID
mutated  all conserved    51RTSQWPQMSQSQACGGSEQIP
Ptroglodytes  all identical  ENSPTRG00000013438  51GTSQWPQMSQSRACGGSEQIP
Mmulatta  all identical  ENSMMUG00000010403  51GTSQWPQMSQSRVCG-SEQIP
Fcatus  not conserved  ENSFCAG00000006432  41GTFQWPQISQSLACGGSEQIPGI
Mmusculus  all identical  ENSMUSG00000005882  51STSQWLQKNQSRVCLGSEQTV
Ggallus  all conserved  ENSGALG00000001799  43GIFQRCKTGQFQLPKACGGLIEANGA
Trubripes  no homologue    
Drerio  no alignment  ENSDARG00000068176  n/a
Dmelanogaster  no alignment  FBgn0035722  n/a
Celegans  no alignment  C35D10.5  n/a
Xtropicalis  no alignment  ENSXETG00000019787  n/a
protein features
start (aa)end (aa)featuredetails 
134134CONFLICTF -> L (in Ref. 2; BAB14217 and 4; BC008871).might get lost (downstream of altered splice site)
135136CONFLICTLR -> MG (in Ref. 2; BAB14217).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 822 / 822
position (AA) of stopcodon in wt / mu AA sequence 274 / 274
position of stopcodon in wt / mu cDNA 832 / 832
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 11 / 11
chromosome 20
strand -1
last intron/exon boundary 698
theoretical NMD boundary in CDS 637
length of CDS 822
coding sequence (CDS) position 152
cDNA position
(for ins/del: last normal base / first normal base)		 162
gDNA position
(for ins/del: last normal base / first normal base)		 28031
chromosomal position
(for ins/del: last normal base / first normal base)		 33971914
original gDNA sequence snippet GCCCCAGATGAGCCAGTCCCGAGCATGTGGTGGATCAGAAC
altered gDNA sequence snippet GCCCCAGATGAGCCAGTCCCAAGCATGTGGTGGATCAGAAC
original cDNA sequence snippet GCCCCAGATGAGCCAGTCCCGAGCATGTGGTGGATCAGAAC
altered cDNA sequence snippet GCCCCAGATGAGCCAGTCCCAAGCATGTGGTGGATCAGAAC
wildtype AA sequence MALLVRVLRN QTSISQWVPV CSRLIPVSPT QGQGDRALSR TSQWPQMSQS RACGGSEQIP
GIDIQLNRKY HTTRKLSTTK DSPQPVEEKV GAFTKIIEAM GFTGPLKYSK WKIKIAALRM
YTSCVEKTDF EEFFLRCQMP DTFNSWFLIT LLHVWMCLVR MKQEGRSGKY MCRIIVHFMW
EDVQQRGRVM GGILSDDHGL AAALWRTFFN RKCEDPRHLE LLVEYVRKQI QYLDSMNGED
LLLTGEVSWR PLVEKNPQSI LKPHSPTYND EGL*
mutated AA sequence MALLVRVLRN QTSISQWVPV CSRLIPVSPT QGQGDRALSR TSQWPQMSQS QACGGSEQIP
GIDIQLNRKY HTTRKLSTTK DSPQPVEEKV GAFTKIIEAM GFTGPLKYSK WKIKIAALRM
YTSCVEKTDF EEFFLRCQMP DTFNSWFLIT LLHVWMCLVR MKQEGRSGKY MCRIIVHFMW
EDVQQRGRVM GGILSDDHGL AAALWRTFFN RKCEDPRHLE LLVEYVRKQI QYLDSMNGED
LLLTGEVSWR PLVEKNPQSI LKPHSPTYND EGL*
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

polymorphism

 Model: simple_aae, prob: 0.999999999956569 (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) chr20:33971914C>TN/A show variant in all transcripts   IGV
HGNC symbol UQCC1
Ensembl transcript ID ENST00000374385
Genbank transcript ID NM_018244
UniProt peptide Q9NVA1
alteration type single base exchange
alteration region CDS
DNA changes c.152G>A
cDNA.330G>A
g.28031G>A
AA changes R51Q Score: 43 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 51
frameshift no
known variant Reference ID: rs4911494
databasehomozygous (T/T)heterozygousallele carriers
1000G79710481845
ExAC20877-898711890
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)2.4720.005
-1.4860
(flanking)-0.040
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased28031wt: 0.29 / mu: 0.82wt: GTCCCGAGCATGTGG
mu: GTCCCAAGCATGTGG		 CCCG|agca
Donor increased28036wt: 0.41 / mu: 0.56wt: GAGCATGTGGTGGAT
mu: AAGCATGTGGTGGAT		 GCAT|gtgg
Donor increased28027wt: 0.46 / mu: 0.87wt: GCCAGTCCCGAGCAT
mu: GCCAGTCCCAAGCAT		 CAGT|cccg
distance from splice site 23
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      51RTSQWPQMSQSRACGGSEQIPGID
mutated  all conserved    51RTSQWPQMSQSQACGGSEQIP
Ptroglodytes  all identical  ENSPTRG00000013438  51GTSQWPQMSQSRACGGSEQIP
Mmulatta  all identical  ENSMMUG00000010403  51GTSQWPQMSQSRVCG-SEQIP
Fcatus  not conserved  ENSFCAG00000006432  41GTFQWPQISQSLACGGSEQIPGI
Mmusculus  all identical  ENSMUSG00000005882  51STSQWLQKNQSRVCLGSEQTV
Ggallus  all conserved  ENSGALG00000001799  43GIFQRCKTGQFQLPKACGGLIEANGA
Trubripes  no homologue    
Drerio  no alignment  ENSDARG00000068176  n/a
Dmelanogaster  no alignment  FBgn0035722  n/a
Celegans  no alignment  C35D10.5  n/a
Xtropicalis  no alignment  ENSXETG00000019787  n/a
protein features
start (aa)end (aa)featuredetails 
134134CONFLICTF -> L (in Ref. 2; BAB14217 and 4; BC008871).might get lost (downstream of altered splice site)
135136CONFLICTLR -> MG (in Ref. 2; BAB14217).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 900 / 900
position (AA) of stopcodon in wt / mu AA sequence 300 / 300
position of stopcodon in wt / mu cDNA 1078 / 1078
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 179 / 179
chromosome 20
strand -1
last intron/exon boundary 944
theoretical NMD boundary in CDS 715
length of CDS 900
coding sequence (CDS) position 152
cDNA position
(for ins/del: last normal base / first normal base)		 330
gDNA position
(for ins/del: last normal base / first normal base)		 28031
chromosomal position
(for ins/del: last normal base / first normal base)		 33971914
original gDNA sequence snippet GCCCCAGATGAGCCAGTCCCGAGCATGTGGTGGATCAGAAC
altered gDNA sequence snippet GCCCCAGATGAGCCAGTCCCAAGCATGTGGTGGATCAGAAC
original cDNA sequence snippet GCCCCAGATGAGCCAGTCCCGAGCATGTGGTGGATCAGAAC
altered cDNA sequence snippet GCCCCAGATGAGCCAGTCCCAAGCATGTGGTGGATCAGAAC
wildtype AA sequence MALLVRVLRN QTSISQWVPV CSRLIPVSPT QGQGDRALSR TSQWPQMSQS RACGGSEQIP
GIDIQLNRKY HTTRKLSTTK DSPQPVEEKV GAFTKIIEAM GFTGPLKYSK WKIKIAALRM
YTSCVEKTDF EEFFLRCQMP DTFNSWFLIT LLHVWMCLVR MKQEGRSGKY MCRIIVHFMW
EDVQQRGRVM GVNPYILKKN MILMTNHFYA AILGYDEGIL SDDHGLAAAL WRTFFNRKCE
DPRHLELLVE YVRKQIQYLD SMNGEDLLLT GEVSWRPLVE KNPQSILKPH SPTYNDEGL*
mutated AA sequence MALLVRVLRN QTSISQWVPV CSRLIPVSPT QGQGDRALSR TSQWPQMSQS QACGGSEQIP
GIDIQLNRKY HTTRKLSTTK DSPQPVEEKV GAFTKIIEAM GFTGPLKYSK WKIKIAALRM
YTSCVEKTDF EEFFLRCQMP DTFNSWFLIT LLHVWMCLVR MKQEGRSGKY MCRIIVHFMW
EDVQQRGRVM GVNPYILKKN MILMTNHFYA AILGYDEGIL SDDHGLAAAL WRTFFNRKCE
DPRHLELLVE YVRKQIQYLD SMNGEDLLLT GEVSWRPLVE KNPQSILKPH SPTYNDEGL*
speed 0.25 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: 0.999999999956569 (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) chr20:33971914C>TN/A show variant in all transcripts   IGV
HGNC symbol UQCC1
Ensembl transcript ID ENST00000397554
Genbank transcript ID N/A
UniProt peptide Q9NVA1
alteration type single base exchange
alteration region CDS
DNA changes c.152G>A
cDNA.163G>A
g.28031G>A
AA changes R51Q Score: 43 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 51
frameshift no
known variant Reference ID: rs4911494
databasehomozygous (T/T)heterozygousallele carriers
1000G79710481845
ExAC20877-898711890
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)2.4720.005
-1.4860
(flanking)-0.040
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased28031wt: 0.29 / mu: 0.82wt: GTCCCGAGCATGTGG
mu: GTCCCAAGCATGTGG		 CCCG|agca
Donor increased28036wt: 0.41 / mu: 0.56wt: GAGCATGTGGTGGAT
mu: AAGCATGTGGTGGAT		 GCAT|gtgg
Donor increased28027wt: 0.46 / mu: 0.87wt: GCCAGTCCCGAGCAT
mu: GCCAGTCCCAAGCAT		 CAGT|cccg
distance from splice site 23
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      51RTSQWPQMSQSRACGGSEQIPGID
mutated  all conserved    51RTSQWPQMSQSQACGGSEQIP
Ptroglodytes  all identical  ENSPTRG00000013438  51GTSQWPQMSQSRACGGSEQIP
Mmulatta  all identical  ENSMMUG00000010403  51GTSQWPQMSQSRVCG-SEQIP
Fcatus  not conserved  ENSFCAG00000006432  41GTFQWPQISQSLACGGSEQIPGI
Mmusculus  all identical  ENSMUSG00000005882  51STSQWLQKNQSRVCLGSEQTV
Ggallus  all conserved  ENSGALG00000001799  43GIFQRCKTGQFQLPKACGGLIEANGA
Trubripes  no homologue    
Drerio  no alignment  ENSDARG00000068176  n/a
Dmelanogaster  no alignment  FBgn0035722  n/a
Celegans  no alignment  C35D10.5  n/a
Xtropicalis  no alignment  ENSXETG00000019787  n/a
protein features
start (aa)end (aa)featuredetails 
134134CONFLICTF -> L (in Ref. 2; BAB14217 and 4; BC008871).might get lost (downstream of altered splice site)
135136CONFLICTLR -> MG (in Ref. 2; BAB14217).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 666 / 666
position (AA) of stopcodon in wt / mu AA sequence 222 / 222
position of stopcodon in wt / mu cDNA 677 / 677
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 12 / 12
chromosome 20
strand -1
last intron/exon boundary 476
theoretical NMD boundary in CDS 414
length of CDS 666
coding sequence (CDS) position 152
cDNA position
(for ins/del: last normal base / first normal base)		 163
gDNA position
(for ins/del: last normal base / first normal base)		 28031
chromosomal position
(for ins/del: last normal base / first normal base)		 33971914
original gDNA sequence snippet GCCCCAGATGAGCCAGTCCCGAGCATGTGGTGGATCAGAAC
altered gDNA sequence snippet GCCCCAGATGAGCCAGTCCCAAGCATGTGGTGGATCAGAAC
original cDNA sequence snippet GCCCCAGATGAGCCAGTCCCGAGCATGTGGTGGATCAGAAC
altered cDNA sequence snippet GCCCCAGATGAGCCAGTCCCAAGCATGTGGTGGATCAGAAC
wildtype AA sequence MALLVRVLRN QTSISQWVPV CSRLIPVSPT QGQGDRALSR TSQWPQMSQS RACGGSEQIP
GIDIQLNRKY HTTRKLSTTK DSPQPVEEKV GAFTKIIEAM GFTGPLKYSK WKIKIAALRM
YTSCVEKTDF EEFFLRCQMP DTFNSWFLIT LLHVWMCLVR MKQEGRSGKY MCRIIVHFMW
EDVQQRGRVM GVSECCQMLV LDNSREGFEF GVLSVVKWPC F*
mutated AA sequence MALLVRVLRN QTSISQWVPV CSRLIPVSPT QGQGDRALSR TSQWPQMSQS QACGGSEQIP
GIDIQLNRKY HTTRKLSTTK DSPQPVEEKV GAFTKIIEAM GFTGPLKYSK WKIKIAALRM
YTSCVEKTDF EEFFLRCQMP DTFNSWFLIT LLHVWMCLVR MKQEGRSGKY MCRIIVHFMW
EDVQQRGRVM GVSECCQMLV LDNSREGFEF GVLSVVKWPC F*
speed 0.23 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999956569 (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) chr20:33971914C>TN/A show variant in all transcripts   IGV
HGNC symbol UQCC1
Ensembl transcript ID ENST00000542501
Genbank transcript ID N/A
UniProt peptide Q9NVA1
alteration type single base exchange
alteration region CDS
DNA changes c.152G>A
cDNA.162G>A
g.28031G>A
AA changes R51Q Score: 43 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 51
frameshift no
known variant Reference ID: rs4911494
databasehomozygous (T/T)heterozygousallele carriers
1000G79710481845
ExAC20877-898711890
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)2.4720.005
-1.4860
(flanking)-0.040
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased28031wt: 0.29 / mu: 0.82wt: GTCCCGAGCATGTGG
mu: GTCCCAAGCATGTGG		 CCCG|agca
Donor increased28036wt: 0.41 / mu: 0.56wt: GAGCATGTGGTGGAT
mu: AAGCATGTGGTGGAT		 GCAT|gtgg
Donor increased28027wt: 0.46 / mu: 0.87wt: GCCAGTCCCGAGCAT
mu: GCCAGTCCCAAGCAT		 CAGT|cccg
distance from splice site 23
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      51RTSQWPQMSQSRACGGSEQIPGID
mutated  all conserved    51RTSQWPQMSQSQACGGSEQIP
Ptroglodytes  all identical  ENSPTRG00000013438  51GTSQWPQMSQSRACGGSEQIP
Mmulatta  all identical  ENSMMUG00000010403  51GTSQWPQMSQSRVCG-SEQIP
Fcatus  not conserved  ENSFCAG00000006432  41GTFQWPQISQSLACGGSEQIPGI
Mmusculus  all identical  ENSMUSG00000005882  51STSQWLQKNQSRVCLGSEQTV
Ggallus  all conserved  ENSGALG00000001799  43GIFQRCKTGQFQLPKACGGLIEANGA
Trubripes  no homologue    
Drerio  no alignment  ENSDARG00000068176  n/a
Dmelanogaster  no alignment  FBgn0035722  n/a
Celegans  no alignment  C35D10.5  n/a
Xtropicalis  no alignment  ENSXETG00000019787  n/a
protein features
start (aa)end (aa)featuredetails 
134134CONFLICTF -> L (in Ref. 2; BAB14217 and 4; BC008871).might get lost (downstream of altered splice site)
135136CONFLICTLR -> MG (in Ref. 2; BAB14217).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 447 / 447
position (AA) of stopcodon in wt / mu AA sequence 149 / 149
position of stopcodon in wt / mu cDNA 457 / 457
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 11 / 11
chromosome 20
strand -1
last intron/exon boundary 531
theoretical NMD boundary in CDS 470
length of CDS 447
coding sequence (CDS) position 152
cDNA position
(for ins/del: last normal base / first normal base)		 162
gDNA position
(for ins/del: last normal base / first normal base)		 28031
chromosomal position
(for ins/del: last normal base / first normal base)		 33971914
original gDNA sequence snippet GCCCCAGATGAGCCAGTCCCGAGCATGTGGTGGATCAGAAC
altered gDNA sequence snippet GCCCCAGATGAGCCAGTCCCAAGCATGTGGTGGATCAGAAC
original cDNA sequence snippet GCCCCAGATGAGCCAGTCCCGAGCATGTGGTGGATCAGAAC
altered cDNA sequence snippet GCCCCAGATGAGCCAGTCCCAAGCATGTGGTGGATCAGAAC
wildtype AA sequence MALLVRVLRN QTSISQWVPV CSRLIPVSPT QGQGDRALSR TSQWPQMSQS RACGGSEQIP
GIDIQLNRKY HTTRKLSTTK DSPQPVEEKV GAFTKIIEAM GFTGPLKYSK WDVSSPNEAG
RPEWEVHVSY HSSFYVGGCS AARQSHGG*
mutated AA sequence MALLVRVLRN QTSISQWVPV CSRLIPVSPT QGQGDRALSR TSQWPQMSQS QACGGSEQIP
GIDIQLNRKY HTTRKLSTTK DSPQPVEEKV GAFTKIIEAM GFTGPLKYSK WDVSSPNEAG
RPEWEVHVSY HSSFYVGGCS AARQSHGG*
speed 0.18 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: 0.999999999580912 (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) chr20:33971914C>TN/A show variant in all transcripts   IGV
HGNC symbol UQCC1
Ensembl transcript ID ENST00000407996
Genbank transcript ID N/A
UniProt peptide Q9NVA1
alteration type single base exchange
alteration region CDS
DNA changes c.152G>A
cDNA.162G>A
g.28031G>A
AA changes R51Q Score: 43 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 51
frameshift no
known variant Reference ID: rs4911494
databasehomozygous (T/T)heterozygousallele carriers
1000G79710481845
ExAC20877-898711890
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)2.4720.005
-1.4860
(flanking)-0.040
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased28031wt: 0.29 / mu: 0.82wt: GTCCCGAGCATGTGG
mu: GTCCCAAGCATGTGG		 CCCG|agca
Donor increased28036wt: 0.41 / mu: 0.56wt: GAGCATGTGGTGGAT
mu: AAGCATGTGGTGGAT		 GCAT|gtgg
Donor increased28027wt: 0.46 / mu: 0.87wt: GCCAGTCCCGAGCAT
mu: GCCAGTCCCAAGCAT		 CAGT|cccg
distance from splice site 23
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      51RTSQWPQMSQSRACGGSEQIPGID
mutated  all conserved    51RTSQWPQMSQSQACGGSEQIP
Ptroglodytes  all identical  ENSPTRG00000013438  187WEDVQQRGRVMGVNPYILKK
Mmulatta  all identical  ENSMMUG00000010403  186WEDVQQRGRVMGVNPYILKK
Fcatus  all identical  ENSFCAG00000006432  177WEDVEQRGRVMGVNSYILKK
Mmusculus  all identical  ENSMUSG00000005882  183WEDVEQRGRVMGVNSYILKK
Ggallus  all conserved  ENSGALG00000001799  43QRCKTGQFQLPKACGGLIEANGA
Trubripes  no homologue    
Drerio  no alignment  ENSDARG00000068176  n/a
Dmelanogaster  no alignment  FBgn0035722  n/a
Celegans  no alignment  C35D10.5  n/a
Xtropicalis  no alignment  ENSXETG00000019787  n/a
protein features
start (aa)end (aa)featuredetails 
134134CONFLICTF -> L (in Ref. 2; BAB14217 and 4; BC008871).might get lost (downstream of altered splice site)
135136CONFLICTLR -> MG (in Ref. 2; BAB14217).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 489 / 489
position (AA) of stopcodon in wt / mu AA sequence 163 / 163
position of stopcodon in wt / mu cDNA 499 / 499
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 11 / 11
chromosome 20
strand -1
last intron/exon boundary 365
theoretical NMD boundary in CDS 304
length of CDS 489
coding sequence (CDS) position 152
cDNA position
(for ins/del: last normal base / first normal base)		 162
gDNA position
(for ins/del: last normal base / first normal base)		 28031
chromosomal position
(for ins/del: last normal base / first normal base)		 33971914
original gDNA sequence snippet GCCCCAGATGAGCCAGTCCCGAGCATGTGGTGGATCAGAAC
altered gDNA sequence snippet GCCCCAGATGAGCCAGTCCCAAGCATGTGGTGGATCAGAAC
original cDNA sequence snippet GCCCCAGATGAGCCAGTCCCGAGCATGTGGTGGATCAGAAC
altered cDNA sequence snippet GCCCCAGATGAGCCAGTCCCAAGCATGTGGTGGATCAGAAC
wildtype AA sequence MALLVRVLRN QTSISQWVPV CSRLIPVSPT QGQGDRALSR TSQWPQMSQS RACGGSEQIP
GIDIQLNRKY HTTPILGYDE GILSDDHGLA AALWRTFFNR KCEDPRHLEL LVEYVRKQIQ
YLDSMNGEDL LLTGEVSWRP LVEKNPQSIL KPHSPTYNDE GL*
mutated AA sequence MALLVRVLRN QTSISQWVPV CSRLIPVSPT QGQGDRALSR TSQWPQMSQS QACGGSEQIP
GIDIQLNRKY HTTPILGYDE GILSDDHGLA AALWRTFFNR KCEDPRHLEL LVEYVRKQIQ
YLDSMNGEDL LLTGEVSWRP LVEKNPQSIL KPHSPTYNDE GL*
speed 0.21 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: without_aae, prob: 0.999961952209867 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • 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) chr20:33971914C>TN/A show variant in all transcripts   IGV
HGNC symbol UQCC1
Ensembl transcript ID ENST00000374380
Genbank transcript ID NM_001184977
UniProt peptide Q9NVA1
alteration type single base exchange
alteration region intron
DNA changes g.28031G>A
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs4911494
databasehomozygous (T/T)heterozygousallele carriers
1000G79710481845
ExAC20877-898711890
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)2.4720.005
-1.4860
(flanking)-0.040
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased28031wt: 0.29 / mu: 0.82wt: GTCCCGAGCATGTGG
mu: GTCCCAAGCATGTGG		 CCCG|agca
Donor increased28036wt: 0.41 / mu: 0.56wt: GAGCATGTGGTGGAT
mu: AAGCATGTGGTGGAT		 GCAT|gtgg
Donor increased28027wt: 0.46 / mu: 0.87wt: GCCAGTCCCGAGCAT
mu: GCCAGTCCCAAGCAT		 CAGT|cccg
distance from splice site 9855
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
134134CONFLICTF -> L (in Ref. 2; BAB14217 and 4; BC008871).might get lost (downstream of altered splice site)
135136CONFLICTLR -> MG (in Ref. 2; BAB14217).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 69 / 69
chromosome 20
strand -1
last intron/exon boundary 630
theoretical NMD boundary in CDS 511
length of CDS 696
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)		 28031
chromosomal position
(for ins/del: last normal base / first normal base)		 33971914
original gDNA sequence snippet GCCCCAGATGAGCCAGTCCCGAGCATGTGGTGGATCAGAAC
altered gDNA sequence snippet GCCCCAGATGAGCCAGTCCCAAGCATGTGGTGGATCAGAAC
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MALLVRVLRN QTSISQWVPV CSRLIPVSPT QGQGDRALSR TSQKIKIAAL RMYTSCVEKT
DFEEFFLRCQ MPDTFNSWFL ITLLHVWMCL VRMKQEGRSG KYMCRIIVHF MWEDVQQRGR
VMGVNPYILK KNMILMTNHF YAAILGYDEG ILSDDHGLAA ALWRTFFNRK CEDPRHLELL
VEYVRKQIQY LDSMNGEDLL LTGEVSWRPL VEKNPQSILK PHSPTYNDEG L*
mutated AA sequence N/A
speed 0.24 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: without_aae, prob: 0.999961952209867 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • 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) chr20:33971914C>TN/A show variant in all transcripts   IGV
HGNC symbol UQCC1
Ensembl transcript ID ENST00000397556
Genbank transcript ID N/A
UniProt peptide Q9NVA1
alteration type single base exchange
alteration region intron
DNA changes g.28031G>A
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs4911494
databasehomozygous (T/T)heterozygousallele carriers
1000G79710481845
ExAC20877-898711890
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)2.4720.005
-1.4860
(flanking)-0.040
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites splice site change before start ATG (at aa -23) |
effectgDNA positionscoredetection sequence  exon-intron border
Donor increased28031wt: 0.29 / mu: 0.82wt: GTCCCGAGCATGTGG
mu: GTCCCAAGCATGTGG		 CCCG|agca
Donor increased28036wt: 0.41 / mu: 0.56wt: GAGCATGTGGTGGAT
mu: AAGCATGTGGTGGAT		 GCAT|gtgg
Donor increased28027wt: 0.46 / mu: 0.87wt: GCCAGTCCCGAGCAT
mu: GCCAGTCCCAAGCAT		 CAGT|cccg
distance from splice site 2086
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
134134CONFLICTF -> L (in Ref. 2; BAB14217 and 4; BC008871).might get lost (downstream of altered splice site)
135136CONFLICTLR -> MG (in Ref. 2; BAB14217).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 153 / 153
chromosome 20
strand -1
last intron/exon boundary 621
theoretical NMD boundary in CDS 418
length of CDS 603
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)		 28031
chromosomal position
(for ins/del: last normal base / first normal base)		 33971914
original gDNA sequence snippet GCCCCAGATGAGCCAGTCCCGAGCATGTGGTGGATCAGAAC
altered gDNA sequence snippet GCCCCAGATGAGCCAGTCCCAAGCATGTGGTGGATCAGAAC
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MGFTGPLKYS KWKIKIAALR MYTSCVEKTD FEEFFLRCQM PDTFNSWFLI TLLHVWMCLV
RMKQEGRSGK YMCRIIVHFM WEDVQQRGRV MGVNPYILKK NMILMTNHFY AAILGYDEGI
LSDDHGLAAA LWRTFFNRKC EDPRHLELLV EYVRKQIQYL DSMNGEDLLL TGEVSWRPLV
EKNPQSILKP HSPTYNDEGL *
mutated AA sequence N/A
speed 0.20 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: without_aae, prob: 0.999961952209867 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • 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) chr20:33971914C>TN/A show variant in all transcripts   IGV
HGNC symbol UQCC1
Ensembl transcript ID ENST00000374377
Genbank transcript ID N/A
UniProt peptide Q9NVA1
alteration type single base exchange
alteration region intron
DNA changes g.28031G>A
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs4911494
databasehomozygous (T/T)heterozygousallele carriers
1000G79710481845
ExAC20877-898711890
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)2.4720.005
-1.4860
(flanking)-0.040
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased28031wt: 0.29 / mu: 0.82wt: GTCCCGAGCATGTGG
mu: GTCCCAAGCATGTGG		 CCCG|agca
Donor increased28036wt: 0.41 / mu: 0.56wt: GAGCATGTGGTGGAT
mu: AAGCATGTGGTGGAT		 GCAT|gtgg
Donor increased28027wt: 0.46 / mu: 0.87wt: GCCAGTCCCGAGCAT
mu: GCCAGTCCCAAGCAT		 CAGT|cccg
distance from splice site 9981
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
134134CONFLICTF -> L (in Ref. 2; BAB14217 and 4; BC008871).might get lost (downstream of altered splice site)
135136CONFLICTLR -> MG (in Ref. 2; BAB14217).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 70 / 70
chromosome 20
strand -1
last intron/exon boundary 499
theoretical NMD boundary in CDS 379
length of CDS 564
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)		 28031
chromosomal position
(for ins/del: last normal base / first normal base)		 33971914
original gDNA sequence snippet GCCCCAGATGAGCCAGTCCCGAGCATGTGGTGGATCAGAAC
altered gDNA sequence snippet GCCCCAGATGAGCCAGTCCCAAGCATGTGGTGGATCAGAAC
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MQPIDTCVSY PRTGGQGSVS HFPGCQMPDT FNSWFLITLL HVWMCLVRMK QEGRSGKYMC
RIIVHFMWED VQQRGRVMGV NPYILKKNMI LMTNHFYAAI LGYDEGILSD DHGLAAALWR
TFFNRKCEDP RHLELLVEYV RKQIQYLDSM NGEDLLLTGE VSWRPLVEKN PQSILKPHSP
TYNDEGL*
mutated AA sequence N/A
speed 0.17 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: without_aae, prob: 0.999961952209867 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • 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) chr20:33971914C>TN/A show variant in all transcripts   IGV
HGNC symbol UQCC1
Ensembl transcript ID ENST00000540457
Genbank transcript ID N/A
UniProt peptide Q9NVA1
alteration type single base exchange
alteration region intron
DNA changes g.28031G>A
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs4911494
databasehomozygous (T/T)heterozygousallele carriers
1000G79710481845
ExAC20877-898711890
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)2.4720.005
-1.4860
(flanking)-0.040
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased28031wt: 0.29 / mu: 0.82wt: GTCCCGAGCATGTGG
mu: GTCCCAAGCATGTGG		 CCCG|agca
Donor increased28036wt: 0.41 / mu: 0.56wt: GAGCATGTGGTGGAT
mu: AAGCATGTGGTGGAT		 GCAT|gtgg
Donor increased28027wt: 0.46 / mu: 0.87wt: GCCAGTCCCGAGCAT
mu: GCCAGTCCCAAGCAT		 CAGT|cccg
distance from splice site 27829
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
134134CONFLICTF -> L (in Ref. 2; BAB14217 and 4; BC008871).might get lost (downstream of altered splice site)
135136CONFLICTLR -> MG (in Ref. 2; BAB14217).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 50 / 50
chromosome 20
strand -1
last intron/exon boundary 350
theoretical NMD boundary in CDS 250
length of CDS 435
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)		 28031
chromosomal position
(for ins/del: last normal base / first normal base)		 33971914
original gDNA sequence snippet GCCCCAGATGAGCCAGTCCCGAGCATGTGGTGGATCAGAAC
altered gDNA sequence snippet GCCCCAGATGAGCCAGTCCCAAGCATGTGGTGGATCAGAAC
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MCLVRMKQEG RSGKYMCRII VHFMWEDVQQ RGRVMGVNPY ILKKNMILMT NHFYAAILGY
DEGILSDDHG LAAALWRTFF NRKCEDPRHL ELLVEYVRKQ IQYLDSMNGE DLLLTGEVSW
RPLVEKNPQS ILKPHSPTYN DEGL*
mutated AA sequence N/A
speed 0.18 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