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 7 transcript(s)...
Querying Taster for transcript #1: ENST00000320474
Querying Taster for transcript #2: ENST00000392779
Querying Taster for transcript #3: ENST00000392781
Querying Taster for transcript #4: ENST00000473285
Querying Taster for transcript #5: ENST00000417187
Querying Taster for transcript #6: ENST00000488170
Querying Taster for transcript #7: ENST00000392780
MT speed 0 s - this script 5.832436 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
B3GALNT1disease_causing0.999999965872585simple_aaeaffectedG271Rsingle base exchangers104893683show file
B3GALNT1disease_causing0.999999965872585simple_aaeaffectedG271Rsingle base exchangers104893683show file
B3GALNT1disease_causing0.999999965872585simple_aaeaffectedG271Rsingle base exchangers104893683show file
B3GALNT1disease_causing0.999999965872585simple_aaeaffectedG271Rsingle base exchangers104893683show file
B3GALNT1disease_causing0.999999965872585simple_aaeaffectedG271Rsingle base exchangers104893683show file
B3GALNT1disease_causing0.999999965872585simple_aaeaffectedG271Rsingle base exchangers104893683show file
B3GALNT1disease_causing1without_aaeaffectedsingle base exchangers104893683show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999965872585      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM023768)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr3:160803732C>TN/A show variant in all transcripts   IGV
HGNC symbol B3GALNT1
Ensembl transcript ID ENST00000320474
Genbank transcript ID NM_003781
UniProt peptide O75752
alteration type single base exchange
alteration region CDS
DNA changes c.811G>A
cDNA.1209G>A
g.19441G>A
AA changes G271R Score: 125 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 271
frameshift no
known variant Reference ID: rs104893683
databasehomozygous (T/T)heterozygousallele carriers
1000G---
ExAC033

known disease mutation at this position, please check HGMD for details (HGMD ID CM023768)

known disease mutation at this position, please check HGMD for details (HGMD ID CM023768)
known disease mutation at this position, please check HGMD for details (HGMD ID CM023768)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)6.0281
6.0281
(flanking)-0.3550.921
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained194370.94mu: GTTTATGTCAGGATC TTAT|gtca
distance from splice site 845
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      271VKPIKFEDVYVGICLNLLKVNIHI
mutated  not conserved    271VKPIKFEDVYVRICLNLLKVNIH
Ptroglodytes  all identical  ENSPTRG00000040051  271VKPIKFEDVYVGICLNLLKVNIH
Mmulatta  all identical  ENSMMUG00000003541  271VKPIKFEDVYVGICLNLLKVNIH
Fcatus  all identical  ENSFCAG00000013235  271VKPIKFEDVYVGICLNLLNVDIH
Mmusculus  all identical  ENSMUSG00000043300  271VKPIKFEDVYVGICLNLLKVDIH
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  all identical  FBgn0050037  335TRIVHLEDMFVTGLC
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
44331TOPO_DOMLumenal (Potential).lost
326326CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 996 / 996
position (AA) of stopcodon in wt / mu AA sequence 332 / 332
position of stopcodon in wt / mu cDNA 1394 / 1394
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 399 / 399
chromosome 3
strand -1
last intron/exon boundary 365
theoretical NMD boundary in CDS cannot be calculated, too little distance between start ATG and last intron/exon boundary
length of CDS 996
coding sequence (CDS) position 811
cDNA position
(for ins/del: last normal base / first normal base)		 1209
gDNA position
(for ins/del: last normal base / first normal base)		 19441
chromosomal position
(for ins/del: last normal base / first normal base)		 160803732
original gDNA sequence snippet AGTTTGAAGATGTTTATGTCGGGATCTGTTTGAATTTATTA
altered gDNA sequence snippet AGTTTGAAGATGTTTATGTCAGGATCTGTTTGAATTTATTA
original cDNA sequence snippet AGTTTGAAGATGTTTATGTCGGGATCTGTTTGAATTTATTA
altered cDNA sequence snippet AGTTTGAAGATGTTTATGTCAGGATCTGTTTGAATTTATTA
wildtype AA sequence MASALWTVLP SRMSLRSLKW SLLLLSLLSF FVMWYLSLPH YNVIERVNWM YFYEYEPIYR
QDFHFTLREH SNCSHQNPFL VILVTSHPSD VKARQAIRVT WGEKKSWWGY EVLTFFLLGQ
EAEKEDKMLA LSLEDEHLLY GDIIRQDFLD TYNNLTLKTI MAFRWVTEFC PNAKYVMKTD
TDVFINTGNL VKYLLNLNHS EKFFTGYPLI DNYSYRGFYQ KTHISYQEYP FKVFPPYCSG
LGYIMSRDLV PRIYEMMGHV KPIKFEDVYV GICLNLLKVN IHIPEDTNLF FLYRIHLDVC
QLRRVIAAHG FSSKEIITFW QVMLRNTTCH Y*
mutated AA sequence MASALWTVLP SRMSLRSLKW SLLLLSLLSF FVMWYLSLPH YNVIERVNWM YFYEYEPIYR
QDFHFTLREH SNCSHQNPFL VILVTSHPSD VKARQAIRVT WGEKKSWWGY EVLTFFLLGQ
EAEKEDKMLA LSLEDEHLLY GDIIRQDFLD TYNNLTLKTI MAFRWVTEFC PNAKYVMKTD
TDVFINTGNL VKYLLNLNHS EKFFTGYPLI DNYSYRGFYQ KTHISYQEYP FKVFPPYCSG
LGYIMSRDLV PRIYEMMGHV KPIKFEDVYV RICLNLLKVN IHIPEDTNLF FLYRIHLDVC
QLRRVIAAHG FSSKEIITFW QVMLRNTTCH Y*
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

disease causing

 Model: simple_aae, prob: 0.999999965872585      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM023768)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr3:160803732C>TN/A show variant in all transcripts   IGV
HGNC symbol B3GALNT1
Ensembl transcript ID ENST00000392779
Genbank transcript ID NM_033168
UniProt peptide O75752
alteration type single base exchange
alteration region CDS
DNA changes c.811G>A
cDNA.1160G>A
g.19441G>A
AA changes G271R Score: 125 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 271
frameshift no
known variant Reference ID: rs104893683
databasehomozygous (T/T)heterozygousallele carriers
1000G---
ExAC033

known disease mutation at this position, please check HGMD for details (HGMD ID CM023768)

known disease mutation at this position, please check HGMD for details (HGMD ID CM023768)
known disease mutation at this position, please check HGMD for details (HGMD ID CM023768)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)6.0281
6.0281
(flanking)-0.3550.921
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained194370.94mu: GTTTATGTCAGGATC TTAT|gtca
distance from splice site 845
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      271VKPIKFEDVYVGICLNLLKVNIHI
mutated  not conserved    271VKPIKFEDVYVRICLNLLKVNIH
Ptroglodytes  all identical  ENSPTRG00000040051  271VKPIKFEDVYVGICLNLLKVNIH
Mmulatta  all identical  ENSMMUG00000003541  271VKPIKFEDVYVGICLNLLKVNIH
Fcatus  all identical  ENSFCAG00000013235  271VKPIKFEDVYVGICLNLLNVDIH
Mmusculus  all identical  ENSMUSG00000043300  271VKPIKFEDVYVGICLNLLKVDIH
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  all identical  FBgn0050037  335TRIVHLEDMFVTGLC
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
44331TOPO_DOMLumenal (Potential).lost
326326CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 996 / 996
position (AA) of stopcodon in wt / mu AA sequence 332 / 332
position of stopcodon in wt / mu cDNA 1345 / 1345
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 350 / 350
chromosome 3
strand -1
last intron/exon boundary 316
theoretical NMD boundary in CDS cannot be calculated, too little distance between start ATG and last intron/exon boundary
length of CDS 996
coding sequence (CDS) position 811
cDNA position
(for ins/del: last normal base / first normal base)		 1160
gDNA position
(for ins/del: last normal base / first normal base)		 19441
chromosomal position
(for ins/del: last normal base / first normal base)		 160803732
original gDNA sequence snippet AGTTTGAAGATGTTTATGTCGGGATCTGTTTGAATTTATTA
altered gDNA sequence snippet AGTTTGAAGATGTTTATGTCAGGATCTGTTTGAATTTATTA
original cDNA sequence snippet AGTTTGAAGATGTTTATGTCGGGATCTGTTTGAATTTATTA
altered cDNA sequence snippet AGTTTGAAGATGTTTATGTCAGGATCTGTTTGAATTTATTA
wildtype AA sequence MASALWTVLP SRMSLRSLKW SLLLLSLLSF FVMWYLSLPH YNVIERVNWM YFYEYEPIYR
QDFHFTLREH SNCSHQNPFL VILVTSHPSD VKARQAIRVT WGEKKSWWGY EVLTFFLLGQ
EAEKEDKMLA LSLEDEHLLY GDIIRQDFLD TYNNLTLKTI MAFRWVTEFC PNAKYVMKTD
TDVFINTGNL VKYLLNLNHS EKFFTGYPLI DNYSYRGFYQ KTHISYQEYP FKVFPPYCSG
LGYIMSRDLV PRIYEMMGHV KPIKFEDVYV GICLNLLKVN IHIPEDTNLF FLYRIHLDVC
QLRRVIAAHG FSSKEIITFW QVMLRNTTCH Y*
mutated AA sequence MASALWTVLP SRMSLRSLKW SLLLLSLLSF FVMWYLSLPH YNVIERVNWM YFYEYEPIYR
QDFHFTLREH SNCSHQNPFL VILVTSHPSD VKARQAIRVT WGEKKSWWGY EVLTFFLLGQ
EAEKEDKMLA LSLEDEHLLY GDIIRQDFLD TYNNLTLKTI MAFRWVTEFC PNAKYVMKTD
TDVFINTGNL VKYLLNLNHS EKFFTGYPLI DNYSYRGFYQ KTHISYQEYP FKVFPPYCSG
LGYIMSRDLV PRIYEMMGHV KPIKFEDVYV RICLNLLKVN IHIPEDTNLF FLYRIHLDVC
QLRRVIAAHG FSSKEIITFW QVMLRNTTCH Y*
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

disease causing

 Model: simple_aae, prob: 0.999999965872585      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM023768)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr3:160803732C>TN/A show variant in all transcripts   IGV
HGNC symbol B3GALNT1
Ensembl transcript ID ENST00000392781
Genbank transcript ID NM_001038628
UniProt peptide O75752
alteration type single base exchange
alteration region CDS
DNA changes c.811G>A
cDNA.1559G>A
g.19441G>A
AA changes G271R Score: 125 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 271
frameshift no
known variant Reference ID: rs104893683
databasehomozygous (T/T)heterozygousallele carriers
1000G---
ExAC033

known disease mutation at this position, please check HGMD for details (HGMD ID CM023768)

known disease mutation at this position, please check HGMD for details (HGMD ID CM023768)
known disease mutation at this position, please check HGMD for details (HGMD ID CM023768)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)6.0281
6.0281
(flanking)-0.3550.921
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained194370.94mu: GTTTATGTCAGGATC TTAT|gtca
distance from splice site 845
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      271VKPIKFEDVYVGICLNLLKVNIHI
mutated  not conserved    271VKPIKFEDVYVRICLNLLKVNIH
Ptroglodytes  all identical  ENSPTRG00000040051  271VKPIKFEDVYVGICLNLLKVNIH
Mmulatta  all identical  ENSMMUG00000003541  271VKPIKFEDVYVGICLNLLKVNIH
Fcatus  all identical  ENSFCAG00000013235  271VKPIKFEDVYVGICLNLLNVDIH
Mmusculus  all identical  ENSMUSG00000043300  271VKPIKFEDVYVGICLNLLKVDIH
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  all identical  FBgn0050037  335TRIVHLEDMFVTGLC
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
44331TOPO_DOMLumenal (Potential).lost
326326CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 996 / 996
position (AA) of stopcodon in wt / mu AA sequence 332 / 332
position of stopcodon in wt / mu cDNA 1744 / 1744
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 749 / 749
chromosome 3
strand -1
last intron/exon boundary 715
theoretical NMD boundary in CDS cannot be calculated, too little distance between start ATG and last intron/exon boundary
length of CDS 996
coding sequence (CDS) position 811
cDNA position
(for ins/del: last normal base / first normal base)		 1559
gDNA position
(for ins/del: last normal base / first normal base)		 19441
chromosomal position
(for ins/del: last normal base / first normal base)		 160803732
original gDNA sequence snippet AGTTTGAAGATGTTTATGTCGGGATCTGTTTGAATTTATTA
altered gDNA sequence snippet AGTTTGAAGATGTTTATGTCAGGATCTGTTTGAATTTATTA
original cDNA sequence snippet AGTTTGAAGATGTTTATGTCGGGATCTGTTTGAATTTATTA
altered cDNA sequence snippet AGTTTGAAGATGTTTATGTCAGGATCTGTTTGAATTTATTA
wildtype AA sequence MASALWTVLP SRMSLRSLKW SLLLLSLLSF FVMWYLSLPH YNVIERVNWM YFYEYEPIYR
QDFHFTLREH SNCSHQNPFL VILVTSHPSD VKARQAIRVT WGEKKSWWGY EVLTFFLLGQ
EAEKEDKMLA LSLEDEHLLY GDIIRQDFLD TYNNLTLKTI MAFRWVTEFC PNAKYVMKTD
TDVFINTGNL VKYLLNLNHS EKFFTGYPLI DNYSYRGFYQ KTHISYQEYP FKVFPPYCSG
LGYIMSRDLV PRIYEMMGHV KPIKFEDVYV GICLNLLKVN IHIPEDTNLF FLYRIHLDVC
QLRRVIAAHG FSSKEIITFW QVMLRNTTCH Y*
mutated AA sequence MASALWTVLP SRMSLRSLKW SLLLLSLLSF FVMWYLSLPH YNVIERVNWM YFYEYEPIYR
QDFHFTLREH SNCSHQNPFL VILVTSHPSD VKARQAIRVT WGEKKSWWGY EVLTFFLLGQ
EAEKEDKMLA LSLEDEHLLY GDIIRQDFLD TYNNLTLKTI MAFRWVTEFC PNAKYVMKTD
TDVFINTGNL VKYLLNLNHS EKFFTGYPLI DNYSYRGFYQ KTHISYQEYP FKVFPPYCSG
LGYIMSRDLV PRIYEMMGHV KPIKFEDVYV RICLNLLKVN IHIPEDTNLF FLYRIHLDVC
QLRRVIAAHG FSSKEIITFW QVMLRNTTCH Y*
speed 1.20 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

disease causing

 Model: simple_aae, prob: 0.999999965872585      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM023768)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr3:160803732C>TN/A show variant in all transcripts   IGV
HGNC symbol B3GALNT1
Ensembl transcript ID ENST00000473285
Genbank transcript ID N/A
UniProt peptide O75752
alteration type single base exchange
alteration region CDS
DNA changes c.811G>A
cDNA.1162G>A
g.19441G>A
AA changes G271R Score: 125 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 271
frameshift no
known variant Reference ID: rs104893683
databasehomozygous (T/T)heterozygousallele carriers
1000G---
ExAC033

known disease mutation at this position, please check HGMD for details (HGMD ID CM023768)

known disease mutation at this position, please check HGMD for details (HGMD ID CM023768)
known disease mutation at this position, please check HGMD for details (HGMD ID CM023768)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)6.0281
6.0281
(flanking)-0.3550.921
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained194370.94mu: GTTTATGTCAGGATC TTAT|gtca
distance from splice site 845
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      271VKPIKFEDVYVGICLNLLKVNIHI
mutated  not conserved    271VKPIKFEDVYVRICLNLLKVNIH
Ptroglodytes  all identical  ENSPTRG00000040051  271VKPIKFEDVYVGICLNLLKVNIH
Mmulatta  all identical  ENSMMUG00000003541  271VKPIKFEDVYVGICLNLLKVNIH
Fcatus  all identical  ENSFCAG00000013235  271VKPIKFEDVYVGICLNLLNVDIH
Mmusculus  all identical  ENSMUSG00000043300  271VKPIKFEDVYVGICLNLLKVDIH
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  all identical  FBgn0050037  335TRIVHLEDMFVTGLC
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
44331TOPO_DOMLumenal (Potential).lost
326326CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 996 / 996
position (AA) of stopcodon in wt / mu AA sequence 332 / 332
position of stopcodon in wt / mu cDNA 1347 / 1347
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 352 / 352
chromosome 3
strand -1
last intron/exon boundary 318
theoretical NMD boundary in CDS cannot be calculated, too little distance between start ATG and last intron/exon boundary
length of CDS 996
coding sequence (CDS) position 811
cDNA position
(for ins/del: last normal base / first normal base)		 1162
gDNA position
(for ins/del: last normal base / first normal base)		 19441
chromosomal position
(for ins/del: last normal base / first normal base)		 160803732
original gDNA sequence snippet AGTTTGAAGATGTTTATGTCGGGATCTGTTTGAATTTATTA
altered gDNA sequence snippet AGTTTGAAGATGTTTATGTCAGGATCTGTTTGAATTTATTA
original cDNA sequence snippet AGTTTGAAGATGTTTATGTCGGGATCTGTTTGAATTTATTA
altered cDNA sequence snippet AGTTTGAAGATGTTTATGTCAGGATCTGTTTGAATTTATTA
wildtype AA sequence MASALWTVLP SRMSLRSLKW SLLLLSLLSF FVMWYLSLPH YNVIERVNWM YFYEYEPIYR
QDFHFTLREH SNCSHQNPFL VILVTSHPSD VKARQAIRVT WGEKKSWWGY EVLTFFLLGQ
EAEKEDKMLA LSLEDEHLLY GDIIRQDFLD TYNNLTLKTI MAFRWVTEFC PNAKYVMKTD
TDVFINTGNL VKYLLNLNHS EKFFTGYPLI DNYSYRGFYQ KTHISYQEYP FKVFPPYCSG
LGYIMSRDLV PRIYEMMGHV KPIKFEDVYV GICLNLLKVN IHIPEDTNLF FLYRIHLDVC
QLRRVIAAHG FSSKEIITFW QVMLRNTTCH Y*
mutated AA sequence MASALWTVLP SRMSLRSLKW SLLLLSLLSF FVMWYLSLPH YNVIERVNWM YFYEYEPIYR
QDFHFTLREH SNCSHQNPFL VILVTSHPSD VKARQAIRVT WGEKKSWWGY EVLTFFLLGQ
EAEKEDKMLA LSLEDEHLLY GDIIRQDFLD TYNNLTLKTI MAFRWVTEFC PNAKYVMKTD
TDVFINTGNL VKYLLNLNHS EKFFTGYPLI DNYSYRGFYQ KTHISYQEYP FKVFPPYCSG
LGYIMSRDLV PRIYEMMGHV KPIKFEDVYV RICLNLLKVN IHIPEDTNLF FLYRIHLDVC
QLRRVIAAHG FSSKEIITFW QVMLRNTTCH Y*
speed 0.15 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999965872585      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM023768)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr3:160803732C>TN/A show variant in all transcripts   IGV
HGNC symbol B3GALNT1
Ensembl transcript ID ENST00000488170
Genbank transcript ID N/A
UniProt peptide O75752
alteration type single base exchange
alteration region CDS
DNA changes c.811G>A
cDNA.1475G>A
g.19441G>A
AA changes G271R Score: 125 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 271
frameshift no
known variant Reference ID: rs104893683
databasehomozygous (T/T)heterozygousallele carriers
1000G---
ExAC033

known disease mutation at this position, please check HGMD for details (HGMD ID CM023768)

known disease mutation at this position, please check HGMD for details (HGMD ID CM023768)
known disease mutation at this position, please check HGMD for details (HGMD ID CM023768)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)6.0281
6.0281
(flanking)-0.3550.921
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained194370.94mu: GTTTATGTCAGGATC TTAT|gtca
distance from splice site 186
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      271VKPIKFEDVYVGICLNLLKVNIHI
mutated  not conserved    271VKPIKFEDVYVRICLNLLKVNIH
Ptroglodytes  all identical  ENSPTRG00000040051  271VKPIKFEDVYVGICLNLLKVNIH
Mmulatta  all identical  ENSMMUG00000003541  271VKPIKFEDVYVGICLNLLKVNIH
Fcatus  all identical  ENSFCAG00000013235  271VKPIKFEDVYVGICLNLLNVDIH
Mmusculus  all identical  ENSMUSG00000043300  271VKPIKFEDVYVGICLNLLKVDIH
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  all identical  FBgn0050037  335TRIVHLEDMFVTGLC
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
44331TOPO_DOMLumenal (Potential).lost
326326CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 996 / 996
position (AA) of stopcodon in wt / mu AA sequence 332 / 332
position of stopcodon in wt / mu cDNA 1660 / 1660
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 665 / 665
chromosome 3
strand -1
last intron/exon boundary 631
theoretical NMD boundary in CDS cannot be calculated, too little distance between start ATG and last intron/exon boundary
length of CDS 996
coding sequence (CDS) position 811
cDNA position
(for ins/del: last normal base / first normal base)		 1475
gDNA position
(for ins/del: last normal base / first normal base)		 19441
chromosomal position
(for ins/del: last normal base / first normal base)		 160803732
original gDNA sequence snippet AGTTTGAAGATGTTTATGTCGGGATCTGTTTGAATTTATTA
altered gDNA sequence snippet AGTTTGAAGATGTTTATGTCAGGATCTGTTTGAATTTATTA
original cDNA sequence snippet AGTTTGAAGATGTTTATGTCGGGATCTGTTTGAATTTATTA
altered cDNA sequence snippet AGTTTGAAGATGTTTATGTCAGGATCTGTTTGAATTTATTA
wildtype AA sequence MASALWTVLP SRMSLRSLKW SLLLLSLLSF FVMWYLSLPH YNVIERVNWM YFYEYEPIYR
QDFHFTLREH SNCSHQNPFL VILVTSHPSD VKARQAIRVT WGEKKSWWGY EVLTFFLLGQ
EAEKEDKMLA LSLEDEHLLY GDIIRQDFLD TYNNLTLKTI MAFRWVTEFC PNAKYVMKTD
TDVFINTGNL VKYLLNLNHS EKFFTGYPLI DNYSYRGFYQ KTHISYQEYP FKVFPPYCSG
LGYIMSRDLV PRIYEMMGHV KPIKFEDVYV GICLNLLKVN IHIPEDTNLF FLYRIHLDVC
QLRRVIAAHG FSSKEIITFW QVMLRNTTCH Y*
mutated AA sequence MASALWTVLP SRMSLRSLKW SLLLLSLLSF FVMWYLSLPH YNVIERVNWM YFYEYEPIYR
QDFHFTLREH SNCSHQNPFL VILVTSHPSD VKARQAIRVT WGEKKSWWGY EVLTFFLLGQ
EAEKEDKMLA LSLEDEHLLY GDIIRQDFLD TYNNLTLKTI MAFRWVTEFC PNAKYVMKTD
TDVFINTGNL VKYLLNLNHS EKFFTGYPLI DNYSYRGFYQ KTHISYQEYP FKVFPPYCSG
LGYIMSRDLV PRIYEMMGHV KPIKFEDVYV RICLNLLKVN IHIPEDTNLF FLYRIHLDVC
QLRRVIAAHG FSSKEIITFW QVMLRNTTCH Y*
speed 1.22 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

disease causing

 Model: simple_aae, prob: 0.999999965872585      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM023768)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr3:160803732C>TN/A show variant in all transcripts   IGV
HGNC symbol B3GALNT1
Ensembl transcript ID ENST00000392780
Genbank transcript ID NM_033167
UniProt peptide O75752
alteration type single base exchange
alteration region CDS
DNA changes c.811G>A
cDNA.1376G>A
g.19441G>A
AA changes G271R Score: 125 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 271
frameshift no
known variant Reference ID: rs104893683
databasehomozygous (T/T)heterozygousallele carriers
1000G---
ExAC033

known disease mutation at this position, please check HGMD for details (HGMD ID CM023768)

known disease mutation at this position, please check HGMD for details (HGMD ID CM023768)
known disease mutation at this position, please check HGMD for details (HGMD ID CM023768)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)6.0281
6.0281
(flanking)-0.3550.921
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained194370.94mu: GTTTATGTCAGGATC TTAT|gtca
distance from splice site 845
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      271VKPIKFEDVYVGICLNLLKVNIHI
mutated  not conserved    271VKPIKFEDVYVRICLNLLKVNIH
Ptroglodytes  all identical  ENSPTRG00000040051  271VKPIKFEDVYVGICLNLLKVNIH
Mmulatta  all identical  ENSMMUG00000003541  271VKPIKFEDVYVGICLNLLKVNIH
Fcatus  all identical  ENSFCAG00000013235  271VKPIKFEDVYVGICLNLLNVDIH
Mmusculus  all identical  ENSMUSG00000043300  271VKPIKFEDVYVGICLNLLKVDIH
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  all identical  FBgn0050037  335TRIVHLEDMFVTGLC
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
44331TOPO_DOMLumenal (Potential).lost
326326CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 996 / 996
position (AA) of stopcodon in wt / mu AA sequence 332 / 332
position of stopcodon in wt / mu cDNA 1561 / 1561
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 566 / 566
chromosome 3
strand -1
last intron/exon boundary 532
theoretical NMD boundary in CDS cannot be calculated, too little distance between start ATG and last intron/exon boundary
length of CDS 996
coding sequence (CDS) position 811
cDNA position
(for ins/del: last normal base / first normal base)		 1376
gDNA position
(for ins/del: last normal base / first normal base)		 19441
chromosomal position
(for ins/del: last normal base / first normal base)		 160803732
original gDNA sequence snippet AGTTTGAAGATGTTTATGTCGGGATCTGTTTGAATTTATTA
altered gDNA sequence snippet AGTTTGAAGATGTTTATGTCAGGATCTGTTTGAATTTATTA
original cDNA sequence snippet AGTTTGAAGATGTTTATGTCGGGATCTGTTTGAATTTATTA
altered cDNA sequence snippet AGTTTGAAGATGTTTATGTCAGGATCTGTTTGAATTTATTA
wildtype AA sequence MASALWTVLP SRMSLRSLKW SLLLLSLLSF FVMWYLSLPH YNVIERVNWM YFYEYEPIYR
QDFHFTLREH SNCSHQNPFL VILVTSHPSD VKARQAIRVT WGEKKSWWGY EVLTFFLLGQ
EAEKEDKMLA LSLEDEHLLY GDIIRQDFLD TYNNLTLKTI MAFRWVTEFC PNAKYVMKTD
TDVFINTGNL VKYLLNLNHS EKFFTGYPLI DNYSYRGFYQ KTHISYQEYP FKVFPPYCSG
LGYIMSRDLV PRIYEMMGHV KPIKFEDVYV GICLNLLKVN IHIPEDTNLF FLYRIHLDVC
QLRRVIAAHG FSSKEIITFW QVMLRNTTCH Y*
mutated AA sequence MASALWTVLP SRMSLRSLKW SLLLLSLLSF FVMWYLSLPH YNVIERVNWM YFYEYEPIYR
QDFHFTLREH SNCSHQNPFL VILVTSHPSD VKARQAIRVT WGEKKSWWGY EVLTFFLLGQ
EAEKEDKMLA LSLEDEHLLY GDIIRQDFLD TYNNLTLKTI MAFRWVTEFC PNAKYVMKTD
TDVFINTGNL VKYLLNLNHS EKFFTGYPLI DNYSYRGFYQ KTHISYQEYP FKVFPPYCSG
LGYIMSRDLV PRIYEMMGHV KPIKFEDVYV RICLNLLKVN IHIPEDTNLF FLYRIHLDVC
QLRRVIAAHG FSSKEIITFW QVMLRNTTCH Y*
speed 1.17 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
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: without_aae, prob: 1      (explain)
Summary
  • known disease mutation at this position (HGMD CM023768)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr3:160803732C>TN/A show variant in all transcripts   IGV
HGNC symbol B3GALNT1
Ensembl transcript ID ENST00000417187
Genbank transcript ID N/A
UniProt peptide O75752
alteration type single base exchange
alteration region intron
DNA changes g.19441G>A
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs104893683
databasehomozygous (T/T)heterozygousallele carriers
1000G---
ExAC033

known disease mutation at this position, please check HGMD for details (HGMD ID CM023768)

known disease mutation at this position, please check HGMD for details (HGMD ID CM023768)
known disease mutation at this position, please check HGMD for details (HGMD ID CM023768)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)6.0281
6.0281
(flanking)-0.3550.921
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained194370.94mu: GTTTATGTCAGGATC TTAT|gtca
distance from splice site 71
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
44331TOPO_DOMLumenal (Potential).might get lost (downstream of altered splice site)
7272CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
140140MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
152152MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
154154CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
198198CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
212212CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
326326CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
length of protein N/A
AA sequence altered N/A
position of stopcodon in wt / mu CDS N/A
position (AA) of stopcodon in wt / mu AA sequence N/A
position of stopcodon in wt / mu cDNA N/A
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 64 / 64
chromosome 3
strand -1
last intron/exon boundary 225
theoretical NMD boundary in CDS 111
length of CDS 276
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)		 19441
chromosomal position
(for ins/del: last normal base / first normal base)		 160803732
original gDNA sequence snippet AGTTTGAAGATGTTTATGTCGGGATCTGTTTGAATTTATTA
altered gDNA sequence snippet AGTTTGAAGATGTTTATGTCAGGATCTGTTTGAATTTATTA
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MASALWTVLP SRMSLRSLKW SLLLLSLLSF FVMWYLSLPH YNVIERVNWM YFYEIHLDVC
QLRRVIAAHG FSSKEIITFW QVMLRNTTCH Y*
mutated AA sequence N/A
speed 0.11 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

Problems