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 9 transcript(s)...
Querying Taster for transcript #1: ENST00000216465
Querying Taster for transcript #2: ENST00000361389
Querying Taster for transcript #3: ENST00000554279
Querying Taster for transcript #4: ENST00000557639
Querying Taster for transcript #5: ENST00000349555
Querying Taster for transcript #6: ENST00000556627
Querying Taster for transcript #7: ENST00000557053
Querying Taster for transcript #8: ENST00000553586
Querying Taster for transcript #9: ENST00000393734
MT speed 0 s - this script 8.27724 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
GSTZ1polymorphism_automatic0.999999789448378simple_aaeaffectedE33Ksingle base exchangers7975show file
GSTZ1polymorphism_automatic0.999999924782954simple_aaeaffectedE32Ksingle base exchangers7975show file
GSTZ1polymorphism_automatic0.999999924782954simple_aaeaffectedE32Ksingle base exchangers7975show file
GSTZ1polymorphism_automatic0.999999924782954simple_aaeaffectedE32Ksingle base exchangers7975show file
GSTZ1polymorphism_automatic0.999999924782954simple_aaeaffectedE32Ksingle base exchangers7975show file
GSTZ1polymorphism_automatic1without_aaeaffectedsingle base exchangers7975show file
GSTZ1polymorphism_automatic1without_aaeaffectedsingle base exchangers7975show file
GSTZ1polymorphism_automatic1without_aaeaffectedsingle base exchangers7975show file
GSTZ1polymorphism_automatic1without_aaeaffectedsingle base exchangers7975show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 2.10551621628104e-07 (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 CM1213373)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr14:77793207G>AN/A show variant in all transcripts   IGV
HGNC symbol GSTZ1
Ensembl transcript ID ENST00000553586
Genbank transcript ID N/A
UniProt peptide O43708
alteration type single base exchange
alteration region CDS
DNA changes c.97G>A
cDNA.133G>A
g.5981G>A
AA changes E33K Score: 56 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 33
frameshift no
known variant Reference ID: rs7975
databasehomozygous (A/A)heterozygousallele carriers
1000G26010401300
ExAC51242251927643

known disease mutation at this position, please check HGMD for details (HGMD ID CM1213373)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.9051
4.5721
(flanking)3.7830.994
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased5977wt: 0.32 / mu: 0.93wt: ATCGACTACGAGACG
mu: ATCGACTACAAGACG		 CGAC|tacg
distance from splice site 27
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      33RIALALKGIDYETVPINLIKDGGQ
mutated  all conserved    33RIALALKGIDYKTVPINLIKDGG
Ptroglodytes  all identical  ENSPTRG00000038857  32RIALALKGIDYETVPINLIKDGG
Mmulatta  all identical  ENSMMUG00000001097  32RIALALKGIDYETVPINLIKDGG
Fcatus  all identical  ENSFCAG00000011729  27RIALALKSIDYETIPINLIKDGG
Mmusculus  all identical  ENSMUSG00000021033  32RIALALKGIDYEIVPINLIKDGG
Ggallus  all conserved  ENSGALG00000010432  36RIALALKGIAYDQVPVNLVKDGG
Trubripes  all conserved  ENSTRUG00000018231  30RIAFALKGVEFDQVAVNLIKDGG
Drerio  all identical  ENSDARG00000027984  33RIAFALKGIEYEQKPINLIKDGG
Dmelanogaster  all conserved  FBgn0037696  60RVALAIKKIDYDIKPTSLLKTVSG
Celegans  all identical  D1053.1  32RIALALKNVDYEYKTVDLLSEEA
Xtropicalis  all conserved  ENSXETG00000011079  33RIALAFKGIEYDQQVINLVKDGG
protein features
start (aa)end (aa)featuredetails 
487DOMAINGST N-terminal.lost
3232MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
3235STRANDlost
4446HELIXmight get lost (downstream of altered splice site)
4545BINDINGGlutathione.might get lost (downstream of altered splice site)
4853HELIXmight get lost (downstream of altered splice site)
5959BINDINGGlutathione; via amide nitrogen and carbonyl oxygen.might get lost (downstream of altered splice site)
6164STRANDmight get lost (downstream of altered splice site)
6771STRANDmight get lost (downstream of altered splice site)
7172REGIONGlutathione binding.might get lost (downstream of altered splice site)
7282HELIXmight get lost (downstream of altered splice site)
92212DOMAINGST C-terminal.might get lost (downstream of altered splice site)
93109HELIXmight get lost (downstream of altered splice site)
111111BINDINGGlutathione.might get lost (downstream of altered splice site)
111114HELIXmight get lost (downstream of altered splice site)
115117REGIONGlutathione binding.might get lost (downstream of altered splice site)
116122HELIXmight get lost (downstream of altered splice site)
124149HELIXmight get lost (downstream of altered splice site)
150156STRANDmight get lost (downstream of altered splice site)
161175HELIXmight get lost (downstream of altered splice site)
184194HELIXmight get lost (downstream of altered splice site)
197199HELIXmight get lost (downstream of altered splice site)
200202TURNmight get lost (downstream of altered splice site)
204206HELIXmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 654 / 654
position (AA) of stopcodon in wt / mu AA sequence 218 / 218
position of stopcodon in wt / mu cDNA 690 / 690
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 37 / 37
chromosome 14
strand 1
last intron/exon boundary 564
theoretical NMD boundary in CDS 477
length of CDS 654
coding sequence (CDS) position 97
cDNA position
(for ins/del: last normal base / first normal base)		 133
gDNA position
(for ins/del: last normal base / first normal base)		 5981
chromosomal position
(for ins/del: last normal base / first normal base)		 77793207
original gDNA sequence snippet CCTTGAAAGGCATCGACTACGAGACGGTGCCCATCAATCTC
altered gDNA sequence snippet CCTTGAAAGGCATCGACTACAAGACGGTGCCCATCAATCTC
original cDNA sequence snippet CCTTGAAAGGCATCGACTACGAGACGGTGCCCATCAATCTC
altered cDNA sequence snippet CCTTGAAAGGCATCGACTACAAGACGGTGCCCATCAATCTC
wildtype AA sequence MTESGKPILY SYFRSSCSWR VRIALALKGI DYETVPINLI KDGGQQFSKD FQALNPMKQV
PTLKIDGITI HQSLAIIEYL EEMRPTPRLL PQDPKKRASV RMISDLIAGG IQPLQNLSVL
KQVGEEMQLT WAQNAITCGF NALEQILQST AGIYCVGDEV TMADLCLVPQ VANAERFKVD
LTPYPTISSI NKRLLVLEAF QVSHPCRQPD TPTELRA*
mutated AA sequence MTESGKPILY SYFRSSCSWR VRIALALKGI DYKTVPINLI KDGGQQFSKD FQALNPMKQV
PTLKIDGITI HQSLAIIEYL EEMRPTPRLL PQDPKKRASV RMISDLIAGG IQPLQNLSVL
KQVGEEMQLT WAQNAITCGF NALEQILQST AGIYCVGDEV TMADLCLVPQ VANAERFKVD
LTPYPTISSI NKRLLVLEAF QVSHPCRQPD TPTELRA*
speed 1.35 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: 7.52170460255001e-08 (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 CM1213373)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr14:77793207G>AN/A show variant in all transcripts   IGV
HGNC symbol GSTZ1
Ensembl transcript ID ENST00000216465
Genbank transcript ID NM_145870
UniProt peptide O43708
alteration type single base exchange
alteration region CDS
DNA changes c.94G>A
cDNA.379G>A
g.5981G>A
AA changes E32K Score: 56 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 32
frameshift no
known variant Reference ID: rs7975
databasehomozygous (A/A)heterozygousallele carriers
1000G26010401300
ExAC51242251927643

known disease mutation at this position, please check HGMD for details (HGMD ID CM1213373)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.9051
4.5721
(flanking)3.7830.994
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased5977wt: 0.32 / mu: 0.93wt: ATCGACTACGAGACG
mu: ATCGACTACAAGACG		 CGAC|tacg
distance from splice site 27
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      32RIALALKGIDYETVPINLIKDGGQ
mutated  all conserved    32RIALALKGIDYKTVPINLIKDGG
Ptroglodytes  all identical  ENSPTRG00000038857  32RIALALKGIDYETVPINLIKDGG
Mmulatta  all identical  ENSMMUG00000001097  32RIALALKGIDYETVPINLIKDGG
Fcatus  all identical  ENSFCAG00000011729  27RIALALKSIDYETIPINLIKDGG
Mmusculus  all identical  ENSMUSG00000021033  32RIALALKGIDYEIVPINLIKDGG
Ggallus  all conserved  ENSGALG00000010432  36RIALALKGIAYDQVPVNLVKDGG
Trubripes  all conserved  ENSTRUG00000018231  30RIAFALKGVEFDQVAVNLIKDGG
Drerio  all identical  ENSDARG00000027984  33RIAFALKGIEYEQKPINLIKDGG
Dmelanogaster  all conserved  FBgn0037696  60RVALAIKKIDYDIKPTSLLKTVSG
Celegans  all identical  D1053.1  32RIALALKNVDYEYKTVDLLSEEA
Xtropicalis  all conserved  ENSXETG00000011079  33RIALAFKGIEYDQQVINLVKDGG
protein features
start (aa)end (aa)featuredetails 
487DOMAINGST N-terminal.lost
3232MOD_RESN6-acetyllysine.lost
3235STRANDlost
4446HELIXmight get lost (downstream of altered splice site)
4545BINDINGGlutathione.might get lost (downstream of altered splice site)
4853HELIXmight get lost (downstream of altered splice site)
5959BINDINGGlutathione; via amide nitrogen and carbonyl oxygen.might get lost (downstream of altered splice site)
6164STRANDmight get lost (downstream of altered splice site)
6771STRANDmight get lost (downstream of altered splice site)
7172REGIONGlutathione binding.might get lost (downstream of altered splice site)
7282HELIXmight get lost (downstream of altered splice site)
92212DOMAINGST C-terminal.might get lost (downstream of altered splice site)
93109HELIXmight get lost (downstream of altered splice site)
111111BINDINGGlutathione.might get lost (downstream of altered splice site)
111114HELIXmight get lost (downstream of altered splice site)
115117REGIONGlutathione binding.might get lost (downstream of altered splice site)
116122HELIXmight get lost (downstream of altered splice site)
124149HELIXmight get lost (downstream of altered splice site)
150156STRANDmight get lost (downstream of altered splice site)
161175HELIXmight get lost (downstream of altered splice site)
184194HELIXmight get lost (downstream of altered splice site)
197199HELIXmight get lost (downstream of altered splice site)
200202TURNmight get lost (downstream of altered splice site)
204206HELIXmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 651 / 651
position (AA) of stopcodon in wt / mu AA sequence 217 / 217
position of stopcodon in wt / mu cDNA 936 / 936
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 286 / 286
chromosome 14
strand 1
last intron/exon boundary 810
theoretical NMD boundary in CDS 474
length of CDS 651
coding sequence (CDS) position 94
cDNA position
(for ins/del: last normal base / first normal base)		 379
gDNA position
(for ins/del: last normal base / first normal base)		 5981
chromosomal position
(for ins/del: last normal base / first normal base)		 77793207
original gDNA sequence snippet CCTTGAAAGGCATCGACTACGAGACGGTGCCCATCAATCTC
altered gDNA sequence snippet CCTTGAAAGGCATCGACTACAAGACGGTGCCCATCAATCTC
original cDNA sequence snippet CCTTGAAAGGCATCGACTACGAGACGGTGCCCATCAATCTC
altered cDNA sequence snippet CCTTGAAAGGCATCGACTACAAGACGGTGCCCATCAATCTC
wildtype AA sequence MQAGKPILYS YFRSSCSWRV RIALALKGID YETVPINLIK DGGQQFSKDF QALNPMKQVP
TLKIDGITIH QSLAIIEYLE EMRPTPRLLP QDPKKRASVR MISDLIAGGI QPLQNLSVLK
QVGEEMQLTW AQNAITCGFN ALEQILQSTA GIYCVGDEVT MADLCLVPQV ANAERFKVDL
TPYPTISSIN KRLLVLEAFQ VSHPCRQPDT PTELRA*
mutated AA sequence MQAGKPILYS YFRSSCSWRV RIALALKGID YKTVPINLIK DGGQQFSKDF QALNPMKQVP
TLKIDGITIH QSLAIIEYLE EMRPTPRLLP QDPKKRASVR MISDLIAGGI QPLQNLSVLK
QVGEEMQLTW AQNAITCGFN ALEQILQSTA GIYCVGDEVT MADLCLVPQV ANAERFKVDL
TPYPTISSIN KRLLVLEAFQ VSHPCRQPDT PTELRA*
speed 1.35 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: 7.52170460255001e-08 (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 CM1213373)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr14:77793207G>AN/A show variant in all transcripts   IGV
HGNC symbol GSTZ1
Ensembl transcript ID ENST00000554279
Genbank transcript ID N/A
UniProt peptide O43708
alteration type single base exchange
alteration region CDS
DNA changes c.94G>A
cDNA.248G>A
g.5981G>A
AA changes E32K Score: 56 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 32
frameshift no
known variant Reference ID: rs7975
databasehomozygous (A/A)heterozygousallele carriers
1000G26010401300
ExAC51242251927643

known disease mutation at this position, please check HGMD for details (HGMD ID CM1213373)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.9051
4.5721
(flanking)3.7830.994
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased5977wt: 0.32 / mu: 0.93wt: ATCGACTACGAGACG
mu: ATCGACTACAAGACG		 CGAC|tacg
distance from splice site 27
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      32RIALALKGIDYETVPINLIKDGGQ
mutated  all conserved    32RIALALKGIDYKTVPINLIKDGG
Ptroglodytes  all identical  ENSPTRG00000038857  32RIALALKGIDYETVPINLIKDGG
Mmulatta  all identical  ENSMMUG00000001097  32RIALALKGIDYETVPINLIKDGG
Fcatus  all identical  ENSFCAG00000011729  27RIALALKSIDYETIPINLIKDGG
Mmusculus  all identical  ENSMUSG00000021033  32RIALALKGIDYEIVPINLIKDGG
Ggallus  all conserved  ENSGALG00000010432  36RIALALKGIAYDQVPVNLVKDGG
Trubripes  all conserved  ENSTRUG00000018231  30RIAFALKGVEFDQVAVNLIKDGG
Drerio  all identical  ENSDARG00000027984  33RIAFALKGIEYEQKPINLIKDGG
Dmelanogaster  all conserved  FBgn0037696  60RVALAIKKIDYDIKPTSLLKTVSG
Celegans  all identical  D1053.1  32RIALALKNVDYEYKTVDLLSEEA
Xtropicalis  all conserved  ENSXETG00000011079  33RIALAFKGIEYDQQVINLVKDGG
protein features
start (aa)end (aa)featuredetails 
487DOMAINGST N-terminal.lost
3232MOD_RESN6-acetyllysine.lost
3235STRANDlost
4446HELIXmight get lost (downstream of altered splice site)
4545BINDINGGlutathione.might get lost (downstream of altered splice site)
4853HELIXmight get lost (downstream of altered splice site)
5959BINDINGGlutathione; via amide nitrogen and carbonyl oxygen.might get lost (downstream of altered splice site)
6164STRANDmight get lost (downstream of altered splice site)
6771STRANDmight get lost (downstream of altered splice site)
7172REGIONGlutathione binding.might get lost (downstream of altered splice site)
7282HELIXmight get lost (downstream of altered splice site)
92212DOMAINGST C-terminal.might get lost (downstream of altered splice site)
93109HELIXmight get lost (downstream of altered splice site)
111111BINDINGGlutathione.might get lost (downstream of altered splice site)
111114HELIXmight get lost (downstream of altered splice site)
115117REGIONGlutathione binding.might get lost (downstream of altered splice site)
116122HELIXmight get lost (downstream of altered splice site)
124149HELIXmight get lost (downstream of altered splice site)
150156STRANDmight get lost (downstream of altered splice site)
161175HELIXmight get lost (downstream of altered splice site)
184194HELIXmight get lost (downstream of altered splice site)
197199HELIXmight get lost (downstream of altered splice site)
200202TURNmight get lost (downstream of altered splice site)
204206HELIXmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 609 / 609
position (AA) of stopcodon in wt / mu AA sequence 203 / 203
position of stopcodon in wt / mu cDNA 763 / 763
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 155 / 155
chromosome 14
strand 1
last intron/exon boundary 637
theoretical NMD boundary in CDS 432
length of CDS 609
coding sequence (CDS) position 94
cDNA position
(for ins/del: last normal base / first normal base)		 248
gDNA position
(for ins/del: last normal base / first normal base)		 5981
chromosomal position
(for ins/del: last normal base / first normal base)		 77793207
original gDNA sequence snippet CCTTGAAAGGCATCGACTACGAGACGGTGCCCATCAATCTC
altered gDNA sequence snippet CCTTGAAAGGCATCGACTACAAGACGGTGCCCATCAATCTC
original cDNA sequence snippet CCTTGAAAGGCATCGACTACGAGACGGTGCCCATCAATCTC
altered cDNA sequence snippet CCTTGAAAGGCATCGACTACAAGACGGTGCCCATCAATCTC
wildtype AA sequence MQAGKPILYS YFRSSCSWRV RIALALKGID YETVPINLIK DGGQQFSKDF QALNPMKQLA
IIEYLEEMRP TPRLLPQDPK KRASVRMISD LIAGGIQPLQ NLSVLKQVGE EMQLTWAQNA
ITCGFNALEQ ILQSTAGIYC VGDEVTMADL CLVPQVANAE RFKVDLTPYP TISSINKRLL
VLEAFQVSHP CRQPDTPTEL RA*
mutated AA sequence MQAGKPILYS YFRSSCSWRV RIALALKGID YKTVPINLIK DGGQQFSKDF QALNPMKQLA
IIEYLEEMRP TPRLLPQDPK KRASVRMISD LIAGGIQPLQ NLSVLKQVGE EMQLTWAQNA
ITCGFNALEQ ILQSTAGIYC VGDEVTMADL CLVPQVANAE RFKVDLTPYP TISSINKRLL
VLEAFQVSHP CRQPDTPTEL RA*
speed 1.33 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: 7.52170460255001e-08 (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 CM1213373)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr14:77793207G>AN/A show variant in all transcripts   IGV
HGNC symbol GSTZ1
Ensembl transcript ID ENST00000349555
Genbank transcript ID NM_145871
UniProt peptide O43708
alteration type single base exchange
alteration region CDS
DNA changes c.94G>A
cDNA.238G>A
g.5981G>A
AA changes E32K Score: 56 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 32
frameshift no
known variant Reference ID: rs7975
databasehomozygous (A/A)heterozygousallele carriers
1000G26010401300
ExAC51242251927643

known disease mutation at this position, please check HGMD for details (HGMD ID CM1213373)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.9051
4.5721
(flanking)3.7830.994
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased5977wt: 0.32 / mu: 0.93wt: ATCGACTACGAGACG
mu: ATCGACTACAAGACG		 CGAC|tacg
distance from splice site 27
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      32RIALALKGIDYETVPINLIKDGGQ
mutated  all conserved    32RIALALKGIDYKTVPINLIKDGG
Ptroglodytes  all identical  ENSPTRG00000038857  32RIALALKGIDYETVPINLIKDGG
Mmulatta  all identical  ENSMMUG00000001097  32RIALALKGIDYETVPINLIKDGG
Fcatus  all identical  ENSFCAG00000011729  27RIALALKSIDYETIPINLIKDGG
Mmusculus  all identical  ENSMUSG00000021033  32RIALALKGIDYEIVPINLIKDGG
Ggallus  all conserved  ENSGALG00000010432  36RIALALKGIAYDQVPVNLVKDGG
Trubripes  all conserved  ENSTRUG00000018231  30RIAFALKGVEFDQVAVNLIKDGG
Drerio  all identical  ENSDARG00000027984  33RIAFALKGIEYEQKPINLIKDGG
Dmelanogaster  all conserved  FBgn0037696  60RVALAIKKIDYDIKPTSLLKTVSG
Celegans  all identical  D1053.1  32RIALALKNVDYEYKTVDLLSEEA
Xtropicalis  all conserved  ENSXETG00000011079  33RIALAFKGIEYDQQVINLVKDGG
protein features
start (aa)end (aa)featuredetails 
487DOMAINGST N-terminal.lost
3232MOD_RESN6-acetyllysine.lost
3235STRANDlost
4446HELIXmight get lost (downstream of altered splice site)
4545BINDINGGlutathione.might get lost (downstream of altered splice site)
4853HELIXmight get lost (downstream of altered splice site)
5959BINDINGGlutathione; via amide nitrogen and carbonyl oxygen.might get lost (downstream of altered splice site)
6164STRANDmight get lost (downstream of altered splice site)
6771STRANDmight get lost (downstream of altered splice site)
7172REGIONGlutathione binding.might get lost (downstream of altered splice site)
7282HELIXmight get lost (downstream of altered splice site)
92212DOMAINGST C-terminal.might get lost (downstream of altered splice site)
93109HELIXmight get lost (downstream of altered splice site)
111111BINDINGGlutathione.might get lost (downstream of altered splice site)
111114HELIXmight get lost (downstream of altered splice site)
115117REGIONGlutathione binding.might get lost (downstream of altered splice site)
116122HELIXmight get lost (downstream of altered splice site)
124149HELIXmight get lost (downstream of altered splice site)
150156STRANDmight get lost (downstream of altered splice site)
161175HELIXmight get lost (downstream of altered splice site)
184194HELIXmight get lost (downstream of altered splice site)
197199HELIXmight get lost (downstream of altered splice site)
200202TURNmight get lost (downstream of altered splice site)
204206HELIXmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 525 / 525
position (AA) of stopcodon in wt / mu AA sequence 175 / 175
position of stopcodon in wt / mu cDNA 669 / 669
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 145 / 145
chromosome 14
strand 1
last intron/exon boundary 543
theoretical NMD boundary in CDS 348
length of CDS 525
coding sequence (CDS) position 94
cDNA position
(for ins/del: last normal base / first normal base)		 238
gDNA position
(for ins/del: last normal base / first normal base)		 5981
chromosomal position
(for ins/del: last normal base / first normal base)		 77793207
original gDNA sequence snippet CCTTGAAAGGCATCGACTACGAGACGGTGCCCATCAATCTC
altered gDNA sequence snippet CCTTGAAAGGCATCGACTACAAGACGGTGCCCATCAATCTC
original cDNA sequence snippet CCTTGAAAGGCATCGACTACGAGACGGTGCCCATCAATCTC
altered cDNA sequence snippet CCTTGAAAGGCATCGACTACAAGACGGTGCCCATCAATCTC
wildtype AA sequence MQAGKPILYS YFRSSCSWRV RIALALKGID YETVPINLIK DGGQQFSKDF QALNPMKQVP
TLKIDGITIH QSNLSVLKQV GEEMQLTWAQ NAITCGFNAL EQILQSTAGI YCVGDEVTMA
DLCLVPQVAN AERFKVDLTP YPTISSINKR LLVLEAFQVS HPCRQPDTPT ELRA*
mutated AA sequence MQAGKPILYS YFRSSCSWRV RIALALKGID YKTVPINLIK DGGQQFSKDF QALNPMKQVP
TLKIDGITIH QSNLSVLKQV GEEMQLTWAQ NAITCGFNAL EQILQSTAGI YCVGDEVTMA
DLCLVPQVAN AERFKVDLTP YPTISSINKR LLVLEAFQVS HPCRQPDTPT ELRA*
speed 1.45 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: 7.52170460255001e-08 (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 CM1213373)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr14:77793207G>AN/A show variant in all transcripts   IGV
HGNC symbol GSTZ1
Ensembl transcript ID ENST00000556627
Genbank transcript ID N/A
UniProt peptide O43708
alteration type single base exchange
alteration region CDS
DNA changes c.94G>A
cDNA.225G>A
g.5981G>A
AA changes E32K Score: 56 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 32
frameshift no
known variant Reference ID: rs7975
databasehomozygous (A/A)heterozygousallele carriers
1000G26010401300
ExAC51242251927643

known disease mutation at this position, please check HGMD for details (HGMD ID CM1213373)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.9051
4.5721
(flanking)3.7830.994
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased5977wt: 0.32 / mu: 0.93wt: ATCGACTACGAGACG
mu: ATCGACTACAAGACG		 CGAC|tacg
distance from splice site 27
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      32RIALALKGIDYETVPINLIKDGGQ
mutated  all conserved    32RIALALKGIDYKTVPINLIKDGG
Ptroglodytes  all identical  ENSPTRG00000038857  32RIALALKGIDYETVPINLIKDGG
Mmulatta  all identical  ENSMMUG00000001097  32RIALALKGIDYETVPINLIKDGG
Fcatus  all identical  ENSFCAG00000011729  27RIALALKSIDYETIPINLIKDGG
Mmusculus  all identical  ENSMUSG00000021033  32RIALALKGIDYEIVPINLIKDGG
Ggallus  all conserved  ENSGALG00000010432  36RIALALKGIAYDQVPVNLVKDGG
Trubripes  all conserved  ENSTRUG00000018231  30RIAFALKGVEFDQVAVNLIKDGG
Drerio  all identical  ENSDARG00000027984  33RIAFALKGIEYEQKPINLIKDGG
Dmelanogaster  all conserved  FBgn0037696  60RVALAIKKIDYDIKPTSLLKTVSGHAYTDEYREVNPMQKVPS
Celegans  all identical  D1053.1  32RIALALKNVDYEYKTVDLLSEEAKSKLKEINPAAKVPTFV
Xtropicalis  all conserved  ENSXETG00000011079  33RIALAFKGIEYDQQVINLVKDGG
protein features
start (aa)end (aa)featuredetails 
487DOMAINGST N-terminal.lost
3232MOD_RESN6-acetyllysine.lost
3235STRANDlost
4446HELIXmight get lost (downstream of altered splice site)
4545BINDINGGlutathione.might get lost (downstream of altered splice site)
4853HELIXmight get lost (downstream of altered splice site)
5959BINDINGGlutathione; via amide nitrogen and carbonyl oxygen.might get lost (downstream of altered splice site)
6164STRANDmight get lost (downstream of altered splice site)
6771STRANDmight get lost (downstream of altered splice site)
7172REGIONGlutathione binding.might get lost (downstream of altered splice site)
7282HELIXmight get lost (downstream of altered splice site)
92212DOMAINGST C-terminal.might get lost (downstream of altered splice site)
93109HELIXmight get lost (downstream of altered splice site)
111111BINDINGGlutathione.might get lost (downstream of altered splice site)
111114HELIXmight get lost (downstream of altered splice site)
115117REGIONGlutathione binding.might get lost (downstream of altered splice site)
116122HELIXmight get lost (downstream of altered splice site)
124149HELIXmight get lost (downstream of altered splice site)
150156STRANDmight get lost (downstream of altered splice site)
161175HELIXmight get lost (downstream of altered splice site)
184194HELIXmight get lost (downstream of altered splice site)
197199HELIXmight get lost (downstream of altered splice site)
200202TURNmight get lost (downstream of altered splice site)
204206HELIXmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 570 / 570
position (AA) of stopcodon in wt / mu AA sequence 190 / 190
position of stopcodon in wt / mu cDNA 701 / 701
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 132 / 132
chromosome 14
strand 1
last intron/exon boundary 575
theoretical NMD boundary in CDS 393
length of CDS 570
coding sequence (CDS) position 94
cDNA position
(for ins/del: last normal base / first normal base)		 225
gDNA position
(for ins/del: last normal base / first normal base)		 5981
chromosomal position
(for ins/del: last normal base / first normal base)		 77793207
original gDNA sequence snippet CCTTGAAAGGCATCGACTACGAGACGGTGCCCATCAATCTC
altered gDNA sequence snippet CCTTGAAAGGCATCGACTACAAGACGGTGCCCATCAATCTC
original cDNA sequence snippet CCTTGAAAGGCATCGACTACGAGACGGTGCCCATCAATCTC
altered cDNA sequence snippet CCTTGAAAGGCATCGACTACAAGACGGTGCCCATCAATCTC
wildtype AA sequence MQAGKPILYS YFRSSCSWRV RIALALKGID YETVPINLIK DGGQQLAIIE YLEEMRPTPR
LLPQDPKKRA SVRMISDLIA GGIQPLQNLS VLKQVGEEMQ LTWAQNAITC GFNALEQILQ
STAGIYCVGD EVTMADLCLV PQVANAERFK VDLTPYPTIS SINKRLLVLE AFQVSHPCRQ
PDTPTELRA*
mutated AA sequence MQAGKPILYS YFRSSCSWRV RIALALKGID YKTVPINLIK DGGQQLAIIE YLEEMRPTPR
LLPQDPKKRA SVRMISDLIA GGIQPLQNLS VLKQVGEEMQ LTWAQNAITC GFNALEQILQ
STAGIYCVGD EVTMADLCLV PQVANAERFK VDLTPYPTIS SINKRLLVLE AFQVSHPCRQ
PDTPTELRA*
speed 1.37 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 3.39607054154132e-46 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM1213373)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr14:77793207G>AN/A show variant in all transcripts   IGV
HGNC symbol GSTZ1
Ensembl transcript ID ENST00000361389
Genbank transcript ID N/A
UniProt peptide O43708
alteration type single base exchange
alteration region 5'UTR
DNA changes cDNA.453G>A
g.5981G>A
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs7975
databasehomozygous (A/A)heterozygousallele carriers
1000G26010401300
ExAC51242251927643

known disease mutation at this position, please check HGMD for details (HGMD ID CM1213373)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.9051
4.5721
(flanking)3.7830.994
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites splice site change before start ATG (at aa -25) |
effectgDNA positionscoredetection sequence  exon-intron border
Donor increased5977wt: 0.32 / mu: 0.93wt: ATCGACTACGAGACG
mu: ATCGACTACAAGACG		 CGAC|tacg
distance from splice site 27
Kozak consensus sequence altered? no
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
487DOMAINGST N-terminal.might get lost (downstream of altered splice site)
710STRANDmight get lost (downstream of altered splice site)
1419REGIONGlutathione binding.might get lost (downstream of altered splice site)
1526HELIXmight get lost (downstream of altered splice site)
3232MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
3235STRANDmight get lost (downstream of altered splice site)
4446HELIXmight get lost (downstream of altered splice site)
4545BINDINGGlutathione.might get lost (downstream of altered splice site)
4853HELIXmight get lost (downstream of altered splice site)
5959BINDINGGlutathione; via amide nitrogen and carbonyl oxygen.might get lost (downstream of altered splice site)
6164STRANDmight get lost (downstream of altered splice site)
6771STRANDmight get lost (downstream of altered splice site)
7172REGIONGlutathione binding.might get lost (downstream of altered splice site)
7282HELIXmight get lost (downstream of altered splice site)
92212DOMAINGST C-terminal.might get lost (downstream of altered splice site)
93109HELIXmight get lost (downstream of altered splice site)
111111BINDINGGlutathione.might get lost (downstream of altered splice site)
111114HELIXmight get lost (downstream of altered splice site)
115117REGIONGlutathione binding.might get lost (downstream of altered splice site)
116122HELIXmight get lost (downstream of altered splice site)
124149HELIXmight get lost (downstream of altered splice site)
150156STRANDmight get lost (downstream of altered splice site)
161175HELIXmight get lost (downstream of altered splice site)
184194HELIXmight get lost (downstream of altered splice site)
197199HELIXmight get lost (downstream of altered splice site)
200202TURNmight get lost (downstream of altered splice site)
204206HELIXmight 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 525 / 525
chromosome 14
strand 1
last intron/exon boundary 884
theoretical NMD boundary in CDS 309
length of CDS 486
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 453
gDNA position
(for ins/del: last normal base / first normal base)		 5981
chromosomal position
(for ins/del: last normal base / first normal base)		 77793207
original gDNA sequence snippet CCTTGAAAGGCATCGACTACGAGACGGTGCCCATCAATCTC
altered gDNA sequence snippet CCTTGAAAGGCATCGACTACAAGACGGTGCCCATCAATCTC
original cDNA sequence snippet CCTTGAAAGGCATCGACTACGAGACGGTGCCCATCAATCTC
altered cDNA sequence snippet CCTTGAAAGGCATCGACTACAAGACGGTGCCCATCAATCTC
wildtype AA sequence MKQVPTLKID GITIHQSLAI IEYLEEMRPT PRLLPQDPKK RASVRMISDL IAGGIQPLQN
LSVLKQVGEE MQLTWAQNAI TCGFNALEQI LQSTAGIYCV GDEVTMADLC LVPQVANAER
FKVDLTPYPT ISSINKRLLV LEAFQVSHPC RQPDTPTELR A*
mutated AA sequence N/A
speed 1.11 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: 3.39607054154132e-46 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM1213373)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr14:77793207G>AN/A show variant in all transcripts   IGV
HGNC symbol GSTZ1
Ensembl transcript ID ENST00000557639
Genbank transcript ID N/A
UniProt peptide O43708
alteration type single base exchange
alteration region 5'UTR
DNA changes cDNA.191G>A
g.5981G>A
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs7975
databasehomozygous (A/A)heterozygousallele carriers
1000G26010401300
ExAC51242251927643

known disease mutation at this position, please check HGMD for details (HGMD ID CM1213373)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.9051
4.5721
(flanking)3.7830.994
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites splice site change before start ATG (at aa -25) |
effectgDNA positionscoredetection sequence  exon-intron border
Donor increased5977wt: 0.32 / mu: 0.93wt: ATCGACTACGAGACG
mu: ATCGACTACAAGACG		 CGAC|tacg
distance from splice site 27
Kozak consensus sequence altered? no
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
487DOMAINGST N-terminal.might get lost (downstream of altered splice site)
710STRANDmight get lost (downstream of altered splice site)
1419REGIONGlutathione binding.might get lost (downstream of altered splice site)
1526HELIXmight get lost (downstream of altered splice site)
3232MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
3235STRANDmight get lost (downstream of altered splice site)
4446HELIXmight get lost (downstream of altered splice site)
4545BINDINGGlutathione.might get lost (downstream of altered splice site)
4853HELIXmight get lost (downstream of altered splice site)
5959BINDINGGlutathione; via amide nitrogen and carbonyl oxygen.might get lost (downstream of altered splice site)
6164STRANDmight get lost (downstream of altered splice site)
6771STRANDmight get lost (downstream of altered splice site)
7172REGIONGlutathione binding.might get lost (downstream of altered splice site)
7282HELIXmight get lost (downstream of altered splice site)
92212DOMAINGST C-terminal.might get lost (downstream of altered splice site)
93109HELIXmight get lost (downstream of altered splice site)
111111BINDINGGlutathione.might get lost (downstream of altered splice site)
111114HELIXmight get lost (downstream of altered splice site)
115117REGIONGlutathione binding.might get lost (downstream of altered splice site)
116122HELIXmight get lost (downstream of altered splice site)
124149HELIXmight get lost (downstream of altered splice site)
150156STRANDmight get lost (downstream of altered splice site)
161175HELIXmight get lost (downstream of altered splice site)
184194HELIXmight get lost (downstream of altered splice site)
197199HELIXmight get lost (downstream of altered splice site)
200202TURNmight get lost (downstream of altered splice site)
204206HELIXmight 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 263 / 263
chromosome 14
strand 1
last intron/exon boundary 622
theoretical NMD boundary in CDS 309
length of CDS 486
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 191
gDNA position
(for ins/del: last normal base / first normal base)		 5981
chromosomal position
(for ins/del: last normal base / first normal base)		 77793207
original gDNA sequence snippet CCTTGAAAGGCATCGACTACGAGACGGTGCCCATCAATCTC
altered gDNA sequence snippet CCTTGAAAGGCATCGACTACAAGACGGTGCCCATCAATCTC
original cDNA sequence snippet CCTTGAAAGGCATCGACTACGAGACGGTGCCCATCAATCTC
altered cDNA sequence snippet CCTTGAAAGGCATCGACTACAAGACGGTGCCCATCAATCTC
wildtype AA sequence MKQVPTLKID GITIHQSLAI IEYLEEMRPT PRLLPQDPKK RASVRMISDL IAGGIQPLQN
LSVLKQVGEE MQLTWAQNAI TCGFNALEQI LQSTAGIYCV GDEVTMADLC LVPQVANAER
FKVDLTPYPT ISSINKRLLV LEAFQVSHPC RQPDTPTELR A*
mutated AA sequence N/A
speed 0.77 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: 3.39607054154132e-46 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM1213373)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr14:77793207G>AN/A show variant in all transcripts   IGV
HGNC symbol GSTZ1
Ensembl transcript ID ENST00000557053
Genbank transcript ID N/A
UniProt peptide O43708
alteration type single base exchange
alteration region 5'UTR
DNA changes cDNA.133G>A
g.5981G>A
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs7975
databasehomozygous (A/A)heterozygousallele carriers
1000G26010401300
ExAC51242251927643

known disease mutation at this position, please check HGMD for details (HGMD ID CM1213373)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.9051
4.5721
(flanking)3.7830.994
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites splice site change before start ATG (at aa -25) |
effectgDNA positionscoredetection sequence  exon-intron border
Donor increased5977wt: 0.32 / mu: 0.93wt: ATCGACTACGAGACG
mu: ATCGACTACAAGACG		 CGAC|tacg
distance from splice site 27
Kozak consensus sequence altered? no
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
487DOMAINGST N-terminal.might get lost (downstream of altered splice site)
710STRANDmight get lost (downstream of altered splice site)
1419REGIONGlutathione binding.might get lost (downstream of altered splice site)
1526HELIXmight get lost (downstream of altered splice site)
3232MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
3235STRANDmight get lost (downstream of altered splice site)
4446HELIXmight get lost (downstream of altered splice site)
4545BINDINGGlutathione.might get lost (downstream of altered splice site)
4853HELIXmight get lost (downstream of altered splice site)
5959BINDINGGlutathione; via amide nitrogen and carbonyl oxygen.might get lost (downstream of altered splice site)
6164STRANDmight get lost (downstream of altered splice site)
6771STRANDmight get lost (downstream of altered splice site)
7172REGIONGlutathione binding.might get lost (downstream of altered splice site)
7282HELIXmight get lost (downstream of altered splice site)
92212DOMAINGST C-terminal.might get lost (downstream of altered splice site)
93109HELIXmight get lost (downstream of altered splice site)
111111BINDINGGlutathione.might get lost (downstream of altered splice site)
111114HELIXmight get lost (downstream of altered splice site)
115117REGIONGlutathione binding.might get lost (downstream of altered splice site)
116122HELIXmight get lost (downstream of altered splice site)
124149HELIXmight get lost (downstream of altered splice site)
150156STRANDmight get lost (downstream of altered splice site)
161175HELIXmight get lost (downstream of altered splice site)
184194HELIXmight get lost (downstream of altered splice site)
197199HELIXmight get lost (downstream of altered splice site)
200202TURNmight get lost (downstream of altered splice site)
204206HELIXmight 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 205 / 205
chromosome 14
strand 1
last intron/exon boundary 438
theoretical NMD boundary in CDS 183
length of CDS 360
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 133
gDNA position
(for ins/del: last normal base / first normal base)		 5981
chromosomal position
(for ins/del: last normal base / first normal base)		 77793207
original gDNA sequence snippet CCTTGAAAGGCATCGACTACGAGACGGTGCCCATCAATCTC
altered gDNA sequence snippet CCTTGAAAGGCATCGACTACAAGACGGTGCCCATCAATCTC
original cDNA sequence snippet CCTTGAAAGGCATCGACTACGAGACGGTGCCCATCAATCTC
altered cDNA sequence snippet CCTTGAAAGGCATCGACTACAAGACGGTGCCCATCAATCTC
wildtype AA sequence MKQVPTLKID GITIHQSNLS VLKQVGEEMQ LTWAQNAITC GFNALEQILQ STAGIYCVGD
EVTMADLCLV PQVANAERFK VDLTPYPTIS SINKRLLVLE AFQVSHPCRQ PDTPTELRA*
mutated AA sequence N/A
speed 0.73 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: 3.39607054154132e-46 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM1213373)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr14:77793207G>AN/A show variant in all transcripts   IGV
HGNC symbol GSTZ1
Ensembl transcript ID ENST00000393734
Genbank transcript ID NM_001513
UniProt peptide O43708
alteration type single base exchange
alteration region 5'UTR
DNA changes cDNA.466G>A
g.5981G>A
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs7975
databasehomozygous (A/A)heterozygousallele carriers
1000G26010401300
ExAC51242251927643

known disease mutation at this position, please check HGMD for details (HGMD ID CM1213373)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.9051
4.5721
(flanking)3.7830.994
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites splice site change before start ATG (at aa -25) |
effectgDNA positionscoredetection sequence  exon-intron border
Donor increased5977wt: 0.32 / mu: 0.93wt: ATCGACTACGAGACG
mu: ATCGACTACAAGACG		 CGAC|tacg
distance from splice site 27
Kozak consensus sequence altered? no
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
487DOMAINGST N-terminal.might get lost (downstream of altered splice site)
710STRANDmight get lost (downstream of altered splice site)
1419REGIONGlutathione binding.might get lost (downstream of altered splice site)
1526HELIXmight get lost (downstream of altered splice site)
3232MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
3235STRANDmight get lost (downstream of altered splice site)
4446HELIXmight get lost (downstream of altered splice site)
4545BINDINGGlutathione.might get lost (downstream of altered splice site)
4853HELIXmight get lost (downstream of altered splice site)
5959BINDINGGlutathione; via amide nitrogen and carbonyl oxygen.might get lost (downstream of altered splice site)
6164STRANDmight get lost (downstream of altered splice site)
6771STRANDmight get lost (downstream of altered splice site)
7172REGIONGlutathione binding.might get lost (downstream of altered splice site)
7282HELIXmight get lost (downstream of altered splice site)
92212DOMAINGST C-terminal.might get lost (downstream of altered splice site)
93109HELIXmight get lost (downstream of altered splice site)
111111BINDINGGlutathione.might get lost (downstream of altered splice site)
111114HELIXmight get lost (downstream of altered splice site)
115117REGIONGlutathione binding.might get lost (downstream of altered splice site)
116122HELIXmight get lost (downstream of altered splice site)
124149HELIXmight get lost (downstream of altered splice site)
150156STRANDmight get lost (downstream of altered splice site)
161175HELIXmight get lost (downstream of altered splice site)
184194HELIXmight get lost (downstream of altered splice site)
197199HELIXmight get lost (downstream of altered splice site)
200202TURNmight get lost (downstream of altered splice site)
204206HELIXmight 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 538 / 538
chromosome 14
strand 1
last intron/exon boundary 897
theoretical NMD boundary in CDS 309
length of CDS 486
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 466
gDNA position
(for ins/del: last normal base / first normal base)		 5981
chromosomal position
(for ins/del: last normal base / first normal base)		 77793207
original gDNA sequence snippet CCTTGAAAGGCATCGACTACGAGACGGTGCCCATCAATCTC
altered gDNA sequence snippet CCTTGAAAGGCATCGACTACAAGACGGTGCCCATCAATCTC
original cDNA sequence snippet CCTTGAAAGGCATCGACTACGAGACGGTGCCCATCAATCTC
altered cDNA sequence snippet CCTTGAAAGGCATCGACTACAAGACGGTGCCCATCAATCTC
wildtype AA sequence MKQVPTLKID GITIHQSLAI IEYLEEMRPT PRLLPQDPKK RASVRMISDL IAGGIQPLQN
LSVLKQVGEE MQLTWAQNAI TCGFNALEQI LQSTAGIYCV GDEVTMADLC LVPQVANAER
FKVDLTPYPT ISSINKRLLV LEAFQVSHPC RQPDTPTELR A*
mutated AA sequence N/A
speed 0.74 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