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: ENST00000344255
Querying Taster for transcript #2: ENST00000320185
Querying Taster for transcript #3: ENST00000346714
Querying Taster for transcript #4: ENST00000347978
MT speed 0 s - this script 4.064083 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
FGF8disease_causing_automatic0.999923810522002simple_aaeaffected0R87Gsingle base exchangers137852663show file
FGF8disease_causing_automatic0.999923810522002simple_aaeaffected0R98Gsingle base exchangers137852663show file
FGF8disease_causing_automatic0.999983176722098simple_aaeaffected0R127Gsingle base exchangers137852663show file
FGF8disease_causing_automatic0.999983176722098simple_aaeaffected0R116Gsingle base exchangers137852663show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999923810522002 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM082676)
  • known disease mutation at this position (HGMD CM104200)
  • known disease mutation: rs9125 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr10:103531285G>CN/A show variant in all transcripts   IGV
HGNC symbol FGF8
Ensembl transcript ID ENST00000346714
Genbank transcript ID NM_033165
UniProt peptide P55075
alteration type single base exchange
alteration region CDS
DNA changes c.259C>G
cDNA.333C>G
g.4543C>G
AA changes R87G Score: 125 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 87
frameshift no
known variant Reference ID: rs137852663
Allele 'C' was neither found in ExAC nor 1000G.
known disease mutation: rs9125 (pathogenic for Hypogonadotropic hypogonadism 6 with or without anosmia) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM082676)

known disease mutation at this position, please check HGMD for details (HGMD ID CM082676)
known disease mutation at this position, please check HGMD for details (HGMD ID CM104200)

known disease mutation at this position, please check HGMD for details (HGMD ID CM082676)
known disease mutation at this position, please check HGMD for details (HGMD ID CM104200)
known disease mutation at this position, please check HGMD for details (HGMD ID CM082676)

known disease mutation at this position, please check HGMD for details (HGMD ID CM082676)
known disease mutation at this position, please check HGMD for details (HGMD ID CM104200)
known disease mutation at this position, please check HGMD for details (HGMD ID CM082676)
known disease mutation at this position, please check HGMD for details (HGMD ID CM104200)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)4.0871
2.9730.998
(flanking)-0.8190.82
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased4534wt: 0.9759 / mu: 0.9886 (marginal change - not scored)wt: TTGGAAGCAGAGTTC
mu: TTGGAAGCAGAGTTG		 GGAA|gcag
Donor gained45370.56mu: GAAGCAGAGTTGGAG AGCA|gagt
distance from splice site 42
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      87IVETDTFGSRVRVRGAETGLYICM
mutated  not conserved    87IVETDTFGSRVGVRGAETGLYIC
Ptroglodytes  not conserved  ENSPTRG00000002874  119------------------
Mmulatta  all identical  ENSMMUG00000015771  15IVETDTFGSRVRVRGAETGLYIC
Fcatus  all identical  ENSFCAG00000007177  88IVETDTFGSRVRVRGAETGLYIC
Mmusculus  all identical  ENSMUSG00000025219  151GSRVRVRGAETGLYIC
Ggallus  all identical  ENSGALG00000007706  101IVETDTFGSRVRIKGAATGFYIC
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000003399  98IVETDTFGSRVRIKGAETGFYIC
Dmelanogaster  all conserved  FBgn0014135  295QRSTVDVG-RIKLQSVATCLYLC
Celegans  not conserved  C05D11.4  125SLVSIRGVETKNFIC
Xtropicalis  all identical  ENSXETG00000014474  127VRIKGAETGYYIC
protein features
start (aa)end (aa)featuredetails 
8085STRANDmight get lost (downstream of altered splice site)
9195STRANDmight get lost (downstream of altered splice site)
100102HELIXmight get lost (downstream of altered splice site)
104110STRANDmight get lost (downstream of altered splice site)
111113TURNmight get lost (downstream of altered splice site)
114119STRANDmight get lost (downstream of altered splice site)
120122TURNmight get lost (downstream of altered splice site)
125128STRANDmight get lost (downstream of altered splice site)
134138STRANDmight get lost (downstream of altered splice site)
143145HELIXmight get lost (downstream of altered splice site)
146151STRANDmight get lost (downstream of altered splice site)
155155CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
157164STRANDmight get lost (downstream of altered splice site)
180182HELIXmight get lost (downstream of altered splice site)
188190HELIXmight get lost (downstream of altered splice site)
192195STRANDmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 615 / 615
position (AA) of stopcodon in wt / mu AA sequence 205 / 205
position of stopcodon in wt / mu cDNA 689 / 689
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 75 / 75
chromosome 10
strand -1
last intron/exon boundary 399
theoretical NMD boundary in CDS 274
length of CDS 615
coding sequence (CDS) position 259
cDNA position
(for ins/del: last normal base / first normal base)		 333
gDNA position
(for ins/del: last normal base / first normal base)		 4543
chromosomal position
(for ins/del: last normal base / first normal base)		 103531285
original gDNA sequence snippet ACACCTTTGGAAGCAGAGTTCGAGTCCGAGGAGCCGAGACG
altered gDNA sequence snippet ACACCTTTGGAAGCAGAGTTGGAGTCCGAGGAGCCGAGACG
original cDNA sequence snippet ACACCTTTGGAAGCAGAGTTCGAGTCCGAGGAGCCGAGACG
altered cDNA sequence snippet ACACCTTTGGAAGCAGAGTTGGAGTCCGAGGAGCCGAGACG
wildtype AA sequence MGSPRSALSC LLLHLLVLCL QAQHVREQSL VTDQLSRRLI RTYQLYSRTS GKHVQVLANK
RINAMAEDGD PFAKLIVETD TFGSRVRVRG AETGLYICMN KKGKLIAKSN GKGKDCVFTE
IVLENNYTAL QNAKYEGWYM AFTRKGRPRK GSKTRQHQRE VHFMKRLPRG HHTTEQSLRF
EFLNYPPFTR SLRGSQRTWA PEPR*
mutated AA sequence MGSPRSALSC LLLHLLVLCL QAQHVREQSL VTDQLSRRLI RTYQLYSRTS GKHVQVLANK
RINAMAEDGD PFAKLIVETD TFGSRVGVRG AETGLYICMN KKGKLIAKSN GKGKDCVFTE
IVLENNYTAL QNAKYEGWYM AFTRKGRPRK GSKTRQHQRE VHFMKRLPRG HHTTEQSLRF
EFLNYPPFTR SLRGSQRTWA PEPR*
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

disease causing

 Model: simple_aae, prob: 0.999923810522002 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM082676)
  • known disease mutation at this position (HGMD CM104200)
  • known disease mutation: rs9125 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr10:103531285G>CN/A show variant in all transcripts   IGV
HGNC symbol FGF8
Ensembl transcript ID ENST00000347978
Genbank transcript ID NM_006119
UniProt peptide P55075
alteration type single base exchange
alteration region CDS
DNA changes c.292C>G
cDNA.462C>G
g.4543C>G
AA changes R98G Score: 125 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 98
frameshift no
known variant Reference ID: rs137852663
Allele 'C' was neither found in ExAC nor 1000G.
known disease mutation: rs9125 (pathogenic for Hypogonadotropic hypogonadism 6 with or without anosmia) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM082676)

known disease mutation at this position, please check HGMD for details (HGMD ID CM082676)
known disease mutation at this position, please check HGMD for details (HGMD ID CM104200)

known disease mutation at this position, please check HGMD for details (HGMD ID CM082676)
known disease mutation at this position, please check HGMD for details (HGMD ID CM104200)
known disease mutation at this position, please check HGMD for details (HGMD ID CM082676)

known disease mutation at this position, please check HGMD for details (HGMD ID CM082676)
known disease mutation at this position, please check HGMD for details (HGMD ID CM104200)
known disease mutation at this position, please check HGMD for details (HGMD ID CM082676)
known disease mutation at this position, please check HGMD for details (HGMD ID CM104200)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)4.0871
2.9730.998
(flanking)-0.8190.82
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased4534wt: 0.9759 / mu: 0.9886 (marginal change - not scored)wt: TTGGAAGCAGAGTTC
mu: TTGGAAGCAGAGTTG		 GGAA|gcag
Donor gained45370.56mu: GAAGCAGAGTTGGAG AGCA|gagt
distance from splice site 42
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      98IVETDTFGSRVRVRGAETGLYICM
mutated  not conserved    98IVETDTFGSRVGVRGAETGLYIC
Ptroglodytes  not conserved  ENSPTRG00000002874  119------------------
Mmulatta  all identical  ENSMMUG00000015771  15IVETDTFGSRVRVRGAETGLYIC
Fcatus  all identical  ENSFCAG00000007177  84IVETDTFGSRVRVRGAETGLYIC
Mmusculus  all identical  ENSMUSG00000025219  151IVETDTFGSRVRVRGAETGLYIC
Ggallus  all identical  ENSGALG00000007706  101IVETDTFGSRVRIKGAATGFYIC
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000003399  98IVETDTFGSRVRIKGAETGFYIC
Dmelanogaster  all conserved  FBgn0014135  295QRSTVDVG-RIKLQSVATCLYLC
Celegans  not conserved  C05D11.4  125SLVSIRGVETKNFIC
Xtropicalis  all identical  ENSXETG00000014474  127VRIKGAETGYYIC
protein features
start (aa)end (aa)featuredetails 
100102HELIXmight get lost (downstream of altered splice site)
104110STRANDmight get lost (downstream of altered splice site)
111113TURNmight get lost (downstream of altered splice site)
114119STRANDmight get lost (downstream of altered splice site)
120122TURNmight get lost (downstream of altered splice site)
125128STRANDmight get lost (downstream of altered splice site)
134138STRANDmight get lost (downstream of altered splice site)
143145HELIXmight get lost (downstream of altered splice site)
146151STRANDmight get lost (downstream of altered splice site)
155155CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
157164STRANDmight get lost (downstream of altered splice site)
180182HELIXmight get lost (downstream of altered splice site)
188190HELIXmight get lost (downstream of altered splice site)
192195STRANDmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 648 / 648
position (AA) of stopcodon in wt / mu AA sequence 216 / 216
position of stopcodon in wt / mu cDNA 818 / 818
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 171 / 171
chromosome 10
strand -1
last intron/exon boundary 528
theoretical NMD boundary in CDS 307
length of CDS 648
coding sequence (CDS) position 292
cDNA position
(for ins/del: last normal base / first normal base)		 462
gDNA position
(for ins/del: last normal base / first normal base)		 4543
chromosomal position
(for ins/del: last normal base / first normal base)		 103531285
original gDNA sequence snippet ACACCTTTGGAAGCAGAGTTCGAGTCCGAGGAGCCGAGACG
altered gDNA sequence snippet ACACCTTTGGAAGCAGAGTTGGAGTCCGAGGAGCCGAGACG
original cDNA sequence snippet ACACCTTTGGAAGCAGAGTTCGAGTCCGAGGAGCCGAGACG
altered cDNA sequence snippet ACACCTTTGGAAGCAGAGTTGGAGTCCGAGGAGCCGAGACG
wildtype AA sequence MGSPRSALSC LLLHLLVLCL QAQVTVQSSP NFTQHVREQS LVTDQLSRRL IRTYQLYSRT
SGKHVQVLAN KRINAMAEDG DPFAKLIVET DTFGSRVRVR GAETGLYICM NKKGKLIAKS
NGKGKDCVFT EIVLENNYTA LQNAKYEGWY MAFTRKGRPR KGSKTRQHQR EVHFMKRLPR
GHHTTEQSLR FEFLNYPPFT RSLRGSQRTW APEPR*
mutated AA sequence MGSPRSALSC LLLHLLVLCL QAQVTVQSSP NFTQHVREQS LVTDQLSRRL IRTYQLYSRT
SGKHVQVLAN KRINAMAEDG DPFAKLIVET DTFGSRVGVR GAETGLYICM NKKGKLIAKS
NGKGKDCVFT EIVLENNYTA LQNAKYEGWY MAFTRKGRPR KGSKTRQHQR EVHFMKRLPR
GHHTTEQSLR FEFLNYPPFT RSLRGSQRTW APEPR*
speed 0.46 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: 0.999983176722098 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM082676)
  • known disease mutation at this position (HGMD CM104200)
  • known disease mutation: rs9125 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr10:103531285G>CN/A show variant in all transcripts   IGV
HGNC symbol FGF8
Ensembl transcript ID ENST00000320185
Genbank transcript ID NM_033163
UniProt peptide P55075
alteration type single base exchange
alteration region CDS
DNA changes c.379C>G
cDNA.438C>G
g.4543C>G
AA changes R127G Score: 125 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 127
frameshift no
known variant Reference ID: rs137852663
Allele 'C' was neither found in ExAC nor 1000G.
known disease mutation: rs9125 (pathogenic for Hypogonadotropic hypogonadism 6 with or without anosmia) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM082676)

known disease mutation at this position, please check HGMD for details (HGMD ID CM082676)
known disease mutation at this position, please check HGMD for details (HGMD ID CM104200)

known disease mutation at this position, please check HGMD for details (HGMD ID CM082676)
known disease mutation at this position, please check HGMD for details (HGMD ID CM104200)
known disease mutation at this position, please check HGMD for details (HGMD ID CM082676)

known disease mutation at this position, please check HGMD for details (HGMD ID CM082676)
known disease mutation at this position, please check HGMD for details (HGMD ID CM104200)
known disease mutation at this position, please check HGMD for details (HGMD ID CM082676)
known disease mutation at this position, please check HGMD for details (HGMD ID CM104200)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)4.0871
2.9730.998
(flanking)-0.8190.82
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased4534wt: 0.9759 / mu: 0.9886 (marginal change - not scored)wt: TTGGAAGCAGAGTTC
mu: TTGGAAGCAGAGTTG		 GGAA|gcag
Donor gained45370.56mu: GAAGCAGAGTTGGAG AGCA|gagt
distance from splice site 42
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      127IVETDTFGSRVRVRGAETGLYICM
mutated  not conserved    127TFGSRVGVRGAETGLYIC
Ptroglodytes  not conserved  ENSPTRG00000002874  119------------------
Mmulatta  all identical  ENSMMUG00000015771  15IVETDTFGSRVRVRGAETGLYIC
Fcatus  all identical  ENSFCAG00000007177  86TFGSRVRVRGAETGLYIC
Mmusculus  all identical  ENSMUSG00000025219  151IVETDTFGSRVRVRGAETGLYIC
Ggallus  all identical  ENSGALG00000007706  101VRIKGAATGFYIC
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000003399  98IVETDTFGSRVRIKGAETGFYIC
Dmelanogaster  all conserved  FBgn0014135  295QRSTVDVG-RIKLQSVATCLYLC
Celegans  not conserved  C05D11.4  125SLVSIRGVETKNFIC
Xtropicalis  all identical  ENSXETG00000014474  127SRVRIKGAETGYYIC
protein features
start (aa)end (aa)featuredetails 
125128STRANDlost
134138STRANDmight get lost (downstream of altered splice site)
143145HELIXmight get lost (downstream of altered splice site)
146151STRANDmight get lost (downstream of altered splice site)
155155CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
157164STRANDmight get lost (downstream of altered splice site)
180182HELIXmight get lost (downstream of altered splice site)
188190HELIXmight get lost (downstream of altered splice site)
192195STRANDmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 735 / 735
position (AA) of stopcodon in wt / mu AA sequence 245 / 245
position of stopcodon in wt / mu cDNA 794 / 794
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 60 / 60
chromosome 10
strand -1
last intron/exon boundary 504
theoretical NMD boundary in CDS 394
length of CDS 735
coding sequence (CDS) position 379
cDNA position
(for ins/del: last normal base / first normal base)		 438
gDNA position
(for ins/del: last normal base / first normal base)		 4543
chromosomal position
(for ins/del: last normal base / first normal base)		 103531285
original gDNA sequence snippet ACACCTTTGGAAGCAGAGTTCGAGTCCGAGGAGCCGAGACG
altered gDNA sequence snippet ACACCTTTGGAAGCAGAGTTGGAGTCCGAGGAGCCGAGACG
original cDNA sequence snippet ACACCTTTGGAAGCAGAGTTCGAGTCCGAGGAGCCGAGACG
altered cDNA sequence snippet ACACCTTTGGAAGCAGAGTTGGAGTCCGAGGAGCCGAGACG
wildtype AA sequence MGSPRSALSC LLLHLLVLCL QAQEGPGRGP ALGRELASLF RAGREPQGVS QQVTVQSSPN
FTQHVREQSL VTDQLSRRLI RTYQLYSRTS GKHVQVLANK RINAMAEDGD PFAKLIVETD
TFGSRVRVRG AETGLYICMN KKGKLIAKSN GKGKDCVFTE IVLENNYTAL QNAKYEGWYM
AFTRKGRPRK GSKTRQHQRE VHFMKRLPRG HHTTEQSLRF EFLNYPPFTR SLRGSQRTWA
PEPR*
mutated AA sequence MGSPRSALSC LLLHLLVLCL QAQEGPGRGP ALGRELASLF RAGREPQGVS QQVTVQSSPN
FTQHVREQSL VTDQLSRRLI RTYQLYSRTS GKHVQVLANK RINAMAEDGD PFAKLIVETD
TFGSRVGVRG AETGLYICMN KKGKLIAKSN GKGKDCVFTE IVLENNYTAL QNAKYEGWYM
AFTRKGRPRK GSKTRQHQRE VHFMKRLPRG HHTTEQSLRF EFLNYPPFTR SLRGSQRTWA
PEPR*
speed 0.93 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: 0.999983176722098 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM082676)
  • known disease mutation at this position (HGMD CM104200)
  • known disease mutation: rs9125 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr10:103531285G>CN/A show variant in all transcripts   IGV
HGNC symbol FGF8
Ensembl transcript ID ENST00000344255
Genbank transcript ID NM_033164
UniProt peptide P55075
alteration type single base exchange
alteration region CDS
DNA changes c.346C>G
cDNA.346C>G
g.4543C>G
AA changes R116G Score: 125 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 116
frameshift no
known variant Reference ID: rs137852663
Allele 'C' was neither found in ExAC nor 1000G.
known disease mutation: rs9125 (pathogenic for Hypogonadotropic hypogonadism 6 with or without anosmia) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM082676)

known disease mutation at this position, please check HGMD for details (HGMD ID CM082676)
known disease mutation at this position, please check HGMD for details (HGMD ID CM104200)

known disease mutation at this position, please check HGMD for details (HGMD ID CM082676)
known disease mutation at this position, please check HGMD for details (HGMD ID CM104200)
known disease mutation at this position, please check HGMD for details (HGMD ID CM082676)

known disease mutation at this position, please check HGMD for details (HGMD ID CM082676)
known disease mutation at this position, please check HGMD for details (HGMD ID CM104200)
known disease mutation at this position, please check HGMD for details (HGMD ID CM082676)
known disease mutation at this position, please check HGMD for details (HGMD ID CM104200)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)4.0871
2.9730.998
(flanking)-0.8190.82
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased4534wt: 0.9759 / mu: 0.9886 (marginal change - not scored)wt: TTGGAAGCAGAGTTC
mu: TTGGAAGCAGAGTTG		 GGAA|gcag
Donor gained45370.56mu: GAAGCAGAGTTGGAG AGCA|gagt
distance from splice site 42
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      116IVETDTFGSRVRVRGAETGLYICM
mutated  not conserved    116IVETDTFGSRVGVRGA
Ptroglodytes  not conserved  ENSPTRG00000002874  119------------------
Mmulatta  all identical  ENSMMUG00000015771  15IVETDTFGSRVRVRGAETGLYIC
Fcatus  all identical  ENSFCAG00000007177  113IVETDTFGSRVRVRGA
Mmusculus  all identical  ENSMUSG00000025219  151IVETDTFGSRVRVRGAETGLYIC
Ggallus  all identical  ENSGALG00000007706  101IVETDTFGSRVRIKGAATGFY
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000003399  98IVETDTFGSRVRIKGAETGFY
Dmelanogaster  all conserved  FBgn0014135  293VDVG-RIKLQSVATCLYLC
Celegans  not conserved  C05D11.4  125SLVSIRGVETKNFIC
Xtropicalis  all identical  ENSXETG00000014474  127SRVRIKGAETGYYIC
protein features
start (aa)end (aa)featuredetails 
114119STRANDlost
120122TURNmight get lost (downstream of altered splice site)
125128STRANDmight get lost (downstream of altered splice site)
134138STRANDmight get lost (downstream of altered splice site)
143145HELIXmight get lost (downstream of altered splice site)
146151STRANDmight get lost (downstream of altered splice site)
155155CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
157164STRANDmight get lost (downstream of altered splice site)
180182HELIXmight get lost (downstream of altered splice site)
188190HELIXmight get lost (downstream of altered splice site)
192195STRANDmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 702 / 702
position (AA) of stopcodon in wt / mu AA sequence 234 / 234
position of stopcodon in wt / mu cDNA 702 / 702
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 1 / 1
chromosome 10
strand -1
last intron/exon boundary 412
theoretical NMD boundary in CDS 361
length of CDS 702
coding sequence (CDS) position 346
cDNA position
(for ins/del: last normal base / first normal base)		 346
gDNA position
(for ins/del: last normal base / first normal base)		 4543
chromosomal position
(for ins/del: last normal base / first normal base)		 103531285
original gDNA sequence snippet ACACCTTTGGAAGCAGAGTTCGAGTCCGAGGAGCCGAGACG
altered gDNA sequence snippet ACACCTTTGGAAGCAGAGTTGGAGTCCGAGGAGCCGAGACG
original cDNA sequence snippet ACACCTTTGGAAGCAGAGTTCGAGTCCGAGGAGCCGAGACG
altered cDNA sequence snippet ACACCTTTGGAAGCAGAGTTGGAGTCCGAGGAGCCGAGACG
wildtype AA sequence MGSPRSALSC LLLHLLVLCL QAQEGPGRGP ALGRELASLF RAGREPQGVS QQHVREQSLV
TDQLSRRLIR TYQLYSRTSG KHVQVLANKR INAMAEDGDP FAKLIVETDT FGSRVRVRGA
ETGLYICMNK KGKLIAKSNG KGKDCVFTEI VLENNYTALQ NAKYEGWYMA FTRKGRPRKG
SKTRQHQREV HFMKRLPRGH HTTEQSLRFE FLNYPPFTRS LRGSQRTWAP EPR*
mutated AA sequence MGSPRSALSC LLLHLLVLCL QAQEGPGRGP ALGRELASLF RAGREPQGVS QQHVREQSLV
TDQLSRRLIR TYQLYSRTSG KHVQVLANKR INAMAEDGDP FAKLIVETDT FGSRVGVRGA
ETGLYICMNK KGKLIAKSNG KGKDCVFTEI VLENNYTALQ NAKYEGWYMA FTRKGRPRKG
SKTRQHQREV HFMKRLPRGH HTTEQSLRFE FLNYPPFTRS LRGSQRTWAP EPR*
speed 0.88 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