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: ENST00000253115
Querying Taster for transcript #2: ENST00000535489
Querying Taster for transcript #3: ENST00000593003
Querying Taster for transcript #4: ENST00000589289
MT speed 0 s - this script 3.745013 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
ZNF426polymorphism_automatic2.09832151654155e-14simple_aaeaffectedA4Vsingle base exchangers2042200show file
ZNF426polymorphism_automatic2.09832151654155e-14simple_aaeaffectedA4Vsingle base exchangers2042200show file
ZNF426polymorphism_automatic2.09832151654155e-14simple_aaeaffectedA4Vsingle base exchangers2042200show file
ZNF426polymorphism_automatic1.15048217896874e-06without_aaeaffectedsingle base exchangers2042200show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999979 (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) chr19:9646898G>AN/A show variant in all transcripts   IGV
HGNC symbol ZNF426
Ensembl transcript ID ENST00000535489
Genbank transcript ID N/A
UniProt peptide Q9BUY5
alteration type single base exchange
alteration region CDS
DNA changes c.11C>T
cDNA.348C>T
g.2406C>T
AA changes A4V Score: 64 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 4
frameshift no
known variant Reference ID: rs2042200
databasehomozygous (A/A)heterozygousallele carriers
1000G155728883
ExAC16021242514027
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me3, Histone, Histone 3 Lysine 9 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.0080
-0.5650
(flanking)-0.6870
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased2412wt: 0.69 / mu: 0.77wt: CGGGATGGCAGCTGCTGATTTGTCCCATGGTAAGCTCTGTT
mu: CGGGATGGCAGCTGTTGATTTGTCCCATGGTAAGCTCTGTT		 attt|GTCC
Acc increased2417wt: 0.45 / mu: 0.60wt: TGGCAGCTGCTGATTTGTCCCATGGTAAGCTCTGTTGCTCT
mu: TGGCAGCTGTTGATTTGTCCCATGGTAAGCTCTGTTGCTCT		 tccc|ATGG
distance from splice site 15
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      4 MAAADLSHGHYLSGDP
mutated  not conserved    4 MAAVDLSHGHYLSGDPVCLHEE
Ptroglodytes  not conserved  ENSPTRG00000010447  4 MAAVDLSHGHYLSGDPVCLHEE
Mmulatta  no alignment  ENSMMUG00000005694  n/a
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000059475  18 MAAPASSHGP--SEDSGCLQER
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
42112DOMAINKRAB.might get lost (downstream of altered splice site)
146174ZN_FINGC2H2-type 1; atypical.might get lost (downstream of altered splice site)
224246ZN_FINGC2H2-type 2.might get lost (downstream of altered splice site)
280302ZN_FINGC2H2-type 3.might get lost (downstream of altered splice site)
308330ZN_FINGC2H2-type 4.might get lost (downstream of altered splice site)
336358ZN_FINGC2H2-type 5.might get lost (downstream of altered splice site)
364386ZN_FINGC2H2-type 6.might get lost (downstream of altered splice site)
392414ZN_FINGC2H2-type 7.might get lost (downstream of altered splice site)
420442ZN_FINGC2H2-type 8.might get lost (downstream of altered splice site)
448470ZN_FINGC2H2-type 9.might get lost (downstream of altered splice site)
476498ZN_FINGC2H2-type 10.might get lost (downstream of altered splice site)
504526ZN_FINGC2H2-type 11.might get lost (downstream of altered splice site)
532554ZN_FINGC2H2-type 12.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1665 / 1665
position (AA) of stopcodon in wt / mu AA sequence 555 / 555
position of stopcodon in wt / mu cDNA 2002 / 2002
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 338 / 338
chromosome 19
strand -1
last intron/exon boundary 746
theoretical NMD boundary in CDS 358
length of CDS 1665
coding sequence (CDS) position 11
cDNA position
(for ins/del: last normal base / first normal base)		 348
gDNA position
(for ins/del: last normal base / first normal base)		 2406
chromosomal position
(for ins/del: last normal base / first normal base)		 9646898
original gDNA sequence snippet ACCTCGCGGGATGGCAGCTGCTGATTTGTCCCATGGTAAGC
altered gDNA sequence snippet ACCTCGCGGGATGGCAGCTGTTGATTTGTCCCATGGTAAGC
original cDNA sequence snippet ACCTCGCGGGATGGCAGCTGCTGATTTGTCCCATGGACATT
altered cDNA sequence snippet ACCTCGCGGGATGGCAGCTGTTGATTTGTCCCATGGACATT
wildtype AA sequence MAAADLSHGH YLSGDPVCLH EEKTPAGRIV ADCLTDCYQD SVTFDDVAVD FTQEEWTLLD
STQRSLYSDV MLENYKNLAT VGGQIIKPSL ISWLEQEESR TVQGGVLQGW EMRLETQWSI
LQQDFLRGQT SIGIQLEGKH NGRELCDCEQ CGEVFSEHSC LKTHVRTQST GNTHDCNQYG
KDFLTLCEKT STGEKLSEFN QSEKIFSLTP NIVYQRTSTQ EKSFECSHCG KSFINESYLQ
AHMRTHNGEK LYEWRNYGPG FIDSTSLSVL IETLNAKKPY KCKECGKGYR YPAYLSIHMR
THTGEKPYEC KECGKAFNYS NSFQIHGRTH TGEKPYVCKE CGKAFTQYSG LSMHVRSHSG
DKPYECKECG KSFLTSSRLI QHIRTHTGEK PFVCVECGKA FAVSSNLSGH LRTHTEEKAC
ECKICGKVFG YPSCLNNHMR THSAQKPYTC KECGKAFNYS THLKIHMRIH TGEKPYECKQ
CGKAFSHSSS FQIHERTHTG EKPYECKECG KAFTCSSSFR IHEKTHTEEK PYKCQQCGKA
YSHPRSLRRH EQIH*
mutated AA sequence MAAVDLSHGH YLSGDPVCLH EEKTPAGRIV ADCLTDCYQD SVTFDDVAVD FTQEEWTLLD
STQRSLYSDV MLENYKNLAT VGGQIIKPSL ISWLEQEESR TVQGGVLQGW EMRLETQWSI
LQQDFLRGQT SIGIQLEGKH NGRELCDCEQ CGEVFSEHSC LKTHVRTQST GNTHDCNQYG
KDFLTLCEKT STGEKLSEFN QSEKIFSLTP NIVYQRTSTQ EKSFECSHCG KSFINESYLQ
AHMRTHNGEK LYEWRNYGPG FIDSTSLSVL IETLNAKKPY KCKECGKGYR YPAYLSIHMR
THTGEKPYEC KECGKAFNYS NSFQIHGRTH TGEKPYVCKE CGKAFTQYSG LSMHVRSHSG
DKPYECKECG KSFLTSSRLI QHIRTHTGEK PFVCVECGKA FAVSSNLSGH LRTHTEEKAC
ECKICGKVFG YPSCLNNHMR THSAQKPYTC KECGKAFNYS THLKIHMRIH TGEKPYECKQ
CGKAFSHSSS FQIHERTHTG EKPYECKECG KAFTCSSSFR IHEKTHTEEK PYKCQQCGKA
YSHPRSLRRH EQIH*
speed 0.50 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: 0.999999999999979 (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) chr19:9646898G>AN/A show variant in all transcripts   IGV
HGNC symbol ZNF426
Ensembl transcript ID ENST00000253115
Genbank transcript ID NM_024106
UniProt peptide Q9BUY5
alteration type single base exchange
alteration region CDS
DNA changes c.11C>T
cDNA.275C>T
g.2406C>T
AA changes A4V Score: 64 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 4
frameshift no
known variant Reference ID: rs2042200
databasehomozygous (A/A)heterozygousallele carriers
1000G155728883
ExAC16021242514027
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me3, Histone, Histone 3 Lysine 9 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.0080
-0.5650
(flanking)-0.6870
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased2412wt: 0.69 / mu: 0.77wt: CGGGATGGCAGCTGCTGATTTGTCCCATGGTAAGCTCTGTT
mu: CGGGATGGCAGCTGTTGATTTGTCCCATGGTAAGCTCTGTT		 attt|GTCC
Acc increased2417wt: 0.45 / mu: 0.60wt: TGGCAGCTGCTGATTTGTCCCATGGTAAGCTCTGTTGCTCT
mu: TGGCAGCTGTTGATTTGTCCCATGGTAAGCTCTGTTGCTCT		 tccc|ATGG
distance from splice site 15
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      4 MAAADLSHGHYLSGDP
mutated  not conserved    4 MAAVDLSHGHYLSGDPVCLHEE
Ptroglodytes  not conserved  ENSPTRG00000010447  4 MAAVDLSHGHYLSGDPVCLHEE
Mmulatta  no alignment  ENSMMUG00000005694  n/a
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000059475  18 MAAPASSHGP--SEDSGCLQER
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
42112DOMAINKRAB.might get lost (downstream of altered splice site)
146174ZN_FINGC2H2-type 1; atypical.might get lost (downstream of altered splice site)
224246ZN_FINGC2H2-type 2.might get lost (downstream of altered splice site)
280302ZN_FINGC2H2-type 3.might get lost (downstream of altered splice site)
308330ZN_FINGC2H2-type 4.might get lost (downstream of altered splice site)
336358ZN_FINGC2H2-type 5.might get lost (downstream of altered splice site)
364386ZN_FINGC2H2-type 6.might get lost (downstream of altered splice site)
392414ZN_FINGC2H2-type 7.might get lost (downstream of altered splice site)
420442ZN_FINGC2H2-type 8.might get lost (downstream of altered splice site)
448470ZN_FINGC2H2-type 9.might get lost (downstream of altered splice site)
476498ZN_FINGC2H2-type 10.might get lost (downstream of altered splice site)
504526ZN_FINGC2H2-type 11.might get lost (downstream of altered splice site)
532554ZN_FINGC2H2-type 12.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1665 / 1665
position (AA) of stopcodon in wt / mu AA sequence 555 / 555
position of stopcodon in wt / mu cDNA 1929 / 1929
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 265 / 265
chromosome 19
strand -1
last intron/exon boundary 673
theoretical NMD boundary in CDS 358
length of CDS 1665
coding sequence (CDS) position 11
cDNA position
(for ins/del: last normal base / first normal base)		 275
gDNA position
(for ins/del: last normal base / first normal base)		 2406
chromosomal position
(for ins/del: last normal base / first normal base)		 9646898
original gDNA sequence snippet ACCTCGCGGGATGGCAGCTGCTGATTTGTCCCATGGTAAGC
altered gDNA sequence snippet ACCTCGCGGGATGGCAGCTGTTGATTTGTCCCATGGTAAGC
original cDNA sequence snippet ACCTCGCGGGATGGCAGCTGCTGATTTGTCCCATGGACATT
altered cDNA sequence snippet ACCTCGCGGGATGGCAGCTGTTGATTTGTCCCATGGACATT
wildtype AA sequence MAAADLSHGH YLSGDPVCLH EEKTPAGRIV ADCLTDCYQD SVTFDDVAVD FTQEEWTLLD
STQRSLYSDV MLENYKNLAT VGGQIIKPSL ISWLEQEESR TVQGGVLQGW EMRLETQWSI
LQQDFLRGQT SIGIQLEGKH NGRELCDCEQ CGEVFSEHSC LKTHVRTQST GNTHDCNQYG
KDFLTLCEKT STGEKLSEFN QSEKIFSLTP NIVYQRTSTQ EKSFECSHCG KSFINESYLQ
AHMRTHNGEK LYEWRNYGPG FIDSTSLSVL IETLNAKKPY KCKECGKGYR YPAYLSIHMR
THTGEKPYEC KECGKAFNYS NSFQIHGRTH TGEKPYVCKE CGKAFTQYSG LSMHVRSHSG
DKPYECKECG KSFLTSSRLI QHIRTHTGEK PFVCVECGKA FAVSSNLSGH LRTHTEEKAC
ECKICGKVFG YPSCLNNHMR THSAQKPYTC KECGKAFNYS THLKIHMRIH TGEKPYECKQ
CGKAFSHSSS FQIHERTHTG EKPYECKECG KAFTCSSSFR IHEKTHTEEK PYKCQQCGKA
YSHPRSLRRH EQIH*
mutated AA sequence MAAVDLSHGH YLSGDPVCLH EEKTPAGRIV ADCLTDCYQD SVTFDDVAVD FTQEEWTLLD
STQRSLYSDV MLENYKNLAT VGGQIIKPSL ISWLEQEESR TVQGGVLQGW EMRLETQWSI
LQQDFLRGQT SIGIQLEGKH NGRELCDCEQ CGEVFSEHSC LKTHVRTQST GNTHDCNQYG
KDFLTLCEKT STGEKLSEFN QSEKIFSLTP NIVYQRTSTQ EKSFECSHCG KSFINESYLQ
AHMRTHNGEK LYEWRNYGPG FIDSTSLSVL IETLNAKKPY KCKECGKGYR YPAYLSIHMR
THTGEKPYEC KECGKAFNYS NSFQIHGRTH TGEKPYVCKE CGKAFTQYSG LSMHVRSHSG
DKPYECKECG KSFLTSSRLI QHIRTHTGEK PFVCVECGKA FAVSSNLSGH LRTHTEEKAC
ECKICGKVFG YPSCLNNHMR THSAQKPYTC KECGKAFNYS THLKIHMRIH TGEKPYECKQ
CGKAFSHSSS FQIHERTHTG EKPYECKECG KAFTCSSSFR IHEKTHTEEK PYKCQQCGKA
YSHPRSLRRH EQIH*
speed 0.50 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: 0.999999999999979 (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) chr19:9646898G>AN/A show variant in all transcripts   IGV
HGNC symbol ZNF426
Ensembl transcript ID ENST00000589289
Genbank transcript ID N/A
UniProt peptide Q9BUY5
alteration type single base exchange
alteration region CDS
DNA changes c.11C>T
cDNA.265C>T
g.2406C>T
AA changes A4V Score: 64 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 4
frameshift no
known variant Reference ID: rs2042200
databasehomozygous (A/A)heterozygousallele carriers
1000G155728883
ExAC16021242514027
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me3, Histone, Histone 3 Lysine 9 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.0080
-0.5650
(flanking)-0.6870
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased2412wt: 0.69 / mu: 0.77wt: CGGGATGGCAGCTGCTGATTTGTCCCATGGTAAGCTCTGTT
mu: CGGGATGGCAGCTGTTGATTTGTCCCATGGTAAGCTCTGTT		 attt|GTCC
Acc increased2417wt: 0.45 / mu: 0.60wt: TGGCAGCTGCTGATTTGTCCCATGGTAAGCTCTGTTGCTCT
mu: TGGCAGCTGTTGATTTGTCCCATGGTAAGCTCTGTTGCTCT		 tccc|ATGG
distance from splice site 15
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      4 MAAADLSHGHYLSGDP
mutated  not conserved    4 MAAVDLSHGHYLSGDPVCLHEE
Ptroglodytes  not conserved  ENSPTRG00000010447  4 MAAVDLSHGHYLSGDPVCLHEE
Mmulatta  no alignment  ENSMMUG00000005694  n/a
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000059475  18 MAAPASSHGP--SEDSGCLQER
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
42112DOMAINKRAB.might get lost (downstream of altered splice site)
146174ZN_FINGC2H2-type 1; atypical.might get lost (downstream of altered splice site)
224246ZN_FINGC2H2-type 2.might get lost (downstream of altered splice site)
280302ZN_FINGC2H2-type 3.might get lost (downstream of altered splice site)
308330ZN_FINGC2H2-type 4.might get lost (downstream of altered splice site)
336358ZN_FINGC2H2-type 5.might get lost (downstream of altered splice site)
364386ZN_FINGC2H2-type 6.might get lost (downstream of altered splice site)
392414ZN_FINGC2H2-type 7.might get lost (downstream of altered splice site)
420442ZN_FINGC2H2-type 8.might get lost (downstream of altered splice site)
448470ZN_FINGC2H2-type 9.might get lost (downstream of altered splice site)
476498ZN_FINGC2H2-type 10.might get lost (downstream of altered splice site)
504526ZN_FINGC2H2-type 11.might get lost (downstream of altered splice site)
532554ZN_FINGC2H2-type 12.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 357 / 357
position (AA) of stopcodon in wt / mu AA sequence 119 / 119
position of stopcodon in wt / mu cDNA 611 / 611
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 255 / 255
chromosome 19
strand -1
last intron/exon boundary 580
theoretical NMD boundary in CDS 275
length of CDS 357
coding sequence (CDS) position 11
cDNA position
(for ins/del: last normal base / first normal base)		 265
gDNA position
(for ins/del: last normal base / first normal base)		 2406
chromosomal position
(for ins/del: last normal base / first normal base)		 9646898
original gDNA sequence snippet ACCTCGCGGGATGGCAGCTGCTGATTTGTCCCATGGTAAGC
altered gDNA sequence snippet ACCTCGCGGGATGGCAGCTGTTGATTTGTCCCATGGTAAGC
original cDNA sequence snippet ACCTCGCGGGATGGCAGCTGCTGATTTGTCCCATGGACATT
altered cDNA sequence snippet ACCTCGCGGGATGGCAGCTGTTGATTTGTCCCATGGACATT
wildtype AA sequence MAAADLSHGH YLSGDPVCLH EEKTPAGRIV ADCLTDCYQD SVTFDDVAVD FTQEEWTLLD
STQRSLYSDV MLENYKNLAT VGGQIIKPSL ISWLEQEESR TVQGGVLQGR KTQWKGTL*
mutated AA sequence MAAVDLSHGH YLSGDPVCLH EEKTPAGRIV ADCLTDCYQD SVTFDDVAVD FTQEEWTLLD
STQRSLYSDV MLENYKNLAT VGGQIIKPSL ISWLEQEESR TVQGGVLQGR KTQWKGTL*
speed 0.55 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

polymorphism

 Model: without_aae, prob: 0.999998849517821 (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) chr19:9646898G>AN/A show variant in all transcripts   IGV
HGNC symbol ZNF426
Ensembl transcript ID ENST00000593003
Genbank transcript ID N/A
UniProt peptide Q9BUY5
alteration type single base exchange
alteration region 5'UTR
DNA changes cDNA.467C>T
g.2406C>T
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs2042200
databasehomozygous (A/A)heterozygousallele carriers
1000G155728883
ExAC16021242514027
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me3, Histone, Histone 3 Lysine 9 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.0080
-0.5650
(flanking)-0.6870
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased2412wt: 0.69 / mu: 0.77wt: CGGGATGGCAGCTGCTGATTTGTCCCATGGTAAGCTCTGTT
mu: CGGGATGGCAGCTGTTGATTTGTCCCATGGTAAGCTCTGTT		 attt|GTCC
Acc increased2417wt: 0.45 / mu: 0.60wt: TGGCAGCTGCTGATTTGTCCCATGGTAAGCTCTGTTGCTCT
mu: TGGCAGCTGTTGATTTGTCCCATGGTAAGCTCTGTTGCTCT		 tccc|ATGG
distance from splice site 15
Kozak consensus sequence altered? no
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
42112DOMAINKRAB.might get lost (downstream of altered splice site)
146174ZN_FINGC2H2-type 1; atypical.might get lost (downstream of altered splice site)
224246ZN_FINGC2H2-type 2.might get lost (downstream of altered splice site)
280302ZN_FINGC2H2-type 3.might get lost (downstream of altered splice site)
308330ZN_FINGC2H2-type 4.might get lost (downstream of altered splice site)
336358ZN_FINGC2H2-type 5.might get lost (downstream of altered splice site)
364386ZN_FINGC2H2-type 6.might get lost (downstream of altered splice site)
392414ZN_FINGC2H2-type 7.might get lost (downstream of altered splice site)
420442ZN_FINGC2H2-type 8.might get lost (downstream of altered splice site)
448470ZN_FINGC2H2-type 9.might get lost (downstream of altered splice site)
476498ZN_FINGC2H2-type 10.might get lost (downstream of altered splice site)
504526ZN_FINGC2H2-type 11.might get lost (downstream of altered splice site)
532554ZN_FINGC2H2-type 12.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 479 / 479
chromosome 19
strand -1
last intron/exon boundary 773
theoretical NMD boundary in CDS 244
length of CDS 1551
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 467
gDNA position
(for ins/del: last normal base / first normal base)		 2406
chromosomal position
(for ins/del: last normal base / first normal base)		 9646898
original gDNA sequence snippet ACCTCGCGGGATGGCAGCTGCTGATTTGTCCCATGGTAAGC
altered gDNA sequence snippet ACCTCGCGGGATGGCAGCTGTTGATTTGTCCCATGGTAAGC
original cDNA sequence snippet ACCTCGCGGGATGGCAGCTGCTGATTTGTCCCATGGATTCA
altered cDNA sequence snippet ACCTCGCGGGATGGCAGCTGTTGATTTGTCCCATGGATTCA
wildtype AA sequence MDSVTFDDVA VDFTQEEWTL LDSTQRSLYS DVMLENYKNL ATVGGQIIKP SLISWLEQEE
SRTVQGGVLQ GWEMRLETQW SILQQDFLRG QTSIGIQLEG KHNGRELCDC EQCGEVFSEH
SCLKTHVRTQ STGNTHDCNQ YGKDFLTLCE KTSTGEKLSE FNQSEKIFSL TPNIVYQRTS
TQEKSFECSH CGKSFINESY LQAHMRTHNG EKLYEWRNYG PGFIDSTSLS VLIETLNAKK
PYKCKECGKG YRYPAYLSIH MRTHTGEKPY ECKECGKAFN YSNSFQIHGR THTGEKPYVC
KECGKAFTQY SGLSMHVRSH SGDKPYECKE CGKSFLTSSR LIQHIRTHTG EKPFVCVECG
KAFAVSSNLS GHLRTHTEEK ACECKICGKV FGYPSCLNNH MRTHSAQKPY TCKECGKAFN
YSTHLKIHMR IHTGEKPYEC KQCGKAFSHS SSFQIHERTH TGEKPYECKE CGKAFTCSSS
FRIHEKTHTE EKPYKCQQCG KAYSHPRSLR RHEQIH*
mutated AA sequence N/A
speed 0.65 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