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: ENST00000263640
Querying Taster for transcript #2: ENST00000409283
Querying Taster for transcript #3: ENST00000410057
Querying Taster for transcript #4: ENST00000434821
MT speed 0 s - this script 5.96177 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
ACVR1disease_causing_automatic0.999999999993172simple_aaeaffected0R206Hsingle base exchangers121912678show file
ACVR1disease_causing_automatic0.999999999993172simple_aaeaffected0R206Hsingle base exchangers121912678show file
ACVR1disease_causing_automatic0.999999999993172simple_aaeaffected0R206Hsingle base exchangers121912678show file
ACVR1disease_causing_automatic0.999999999993172simple_aaeaffected0R206Hsingle base exchangers121912678show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999999993172 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM061633)
  • known disease mutation: rs18309 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr2:158630626C>TN/A show variant in all transcripts   IGV
HGNC symbol ACVR1
Ensembl transcript ID ENST00000263640
Genbank transcript ID NM_001105
UniProt peptide Q04771
alteration type single base exchange
alteration region CDS
DNA changes c.617G>A
cDNA.1047G>A
g.101749G>A
AA changes R206H Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 206
frameshift no
known variant Reference ID: rs121912678
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs18309 (pathogenic for Progressive myositis ossificans|Inborn genetic diseases|not provided) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM061633)

known disease mutation at this position, please check HGMD for details (HGMD ID CM061633)
known disease mutation at this position, please check HGMD for details (HGMD ID CM061633)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.0240.988
6.1991
(flanking)4.4131
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased101741wt: 0.67 / mu: 0.79wt: AGAACAGTGGCTCGC
mu: AGAACAGTGGCTCAC		 AACA|gtgg
Donor increased101752wt: 0.50 / mu: 0.72wt: TCGCCAGATTACACT
mu: TCACCAGATTACACT		 GCCA|gatt
Donor gained1017490.75mu: GGCTCACCAGATTAC CTCA|ccag
distance from splice site 27
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      206GLPFLVQRTVARQITLLECVGKGR
mutated  not conserved    206GLPFLVQRTVAHQITLLECVGKG
Ptroglodytes  all identical  ENSPTRG00000012555  206GLPFLVQRTVARQITLLECVGKG
Mmulatta  all identical  ENSMMUG00000018497  206GLPFLVQRTVARQITLLECVGKG
Fcatus  all identical  ENSFCAG00000008054  206GLLFLVQRTVARQITLLECVGKG
Mmusculus  all identical  ENSMUSG00000026836  206GLPFLVQRTVARQITLLECVGKG
Ggallus  all identical  ENSGALG00000012551  25GLPFLVQRTVARQITLVECVGKG
Trubripes  all identical  ENSTRUG00000007007  210QRTVARQITLNECVGKG
Drerio  all identical  ENSDARG00000014986  203GLPFLVQRTVARQIS
Dmelanogaster  all conserved  FBgn0003317  257GLPLLVQRTLAKQVTLIE
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000010380  209GLPFLVQRTVARQITLAECVGKG
protein features
start (aa)end (aa)featuredetails 
147509TOPO_DOMCytoplasmic (Potential).lost
178207DOMAINGS.lost
205207HELIXlost
208502DOMAINProtein kinase.might get lost (downstream of altered splice site)
209216STRANDmight get lost (downstream of altered splice site)
214222NP_BINDATP (By similarity).might get lost (downstream of altered splice site)
218227STRANDmight get lost (downstream of altered splice site)
226226MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
230237STRANDmight get lost (downstream of altered splice site)
235235BINDINGATP (By similarity).might get lost (downstream of altered splice site)
239241HELIXmight get lost (downstream of altered splice site)
242254HELIXmight get lost (downstream of altered splice site)
265273STRANDmight get lost (downstream of altered splice site)
276283STRANDmight get lost (downstream of altered splice site)
291295HELIXmight get lost (downstream of altered splice site)
302320HELIXmight get lost (downstream of altered splice site)
325327STRANDmight get lost (downstream of altered splice site)
331333STRANDmight get lost (downstream of altered splice site)
336336ACT_SITEProton acceptor (By similarity).might get lost (downstream of altered splice site)
339341HELIXmight get lost (downstream of altered splice site)
342344STRANDmight get lost (downstream of altered splice site)
350352STRANDmight get lost (downstream of altered splice site)
359362STRANDmight get lost (downstream of altered splice site)
363366TURNmight get lost (downstream of altered splice site)
367369STRANDmight get lost (downstream of altered splice site)
379381HELIXmight get lost (downstream of altered splice site)
384387HELIXmight get lost (downstream of altered splice site)
396415HELIXmight get lost (downstream of altered splice site)
430434TURNmight get lost (downstream of altered splice site)
441448HELIXmight get lost (downstream of altered splice site)
459463HELIXmight get lost (downstream of altered splice site)
465477HELIXmight get lost (downstream of altered splice site)
482484HELIXmight get lost (downstream of altered splice site)
488498HELIXmight get lost (downstream of altered splice site)
501501MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1530 / 1530
position (AA) of stopcodon in wt / mu AA sequence 510 / 510
position of stopcodon in wt / mu cDNA 1960 / 1960
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 431 / 431
chromosome 2
strand -1
last intron/exon boundary 1826
theoretical NMD boundary in CDS 1345
length of CDS 1530
coding sequence (CDS) position 617
cDNA position
(for ins/del: last normal base / first normal base)		 1047
gDNA position
(for ins/del: last normal base / first normal base)		 101749
chromosomal position
(for ins/del: last normal base / first normal base)		 158630626
original gDNA sequence snippet GGTACAAAGAACAGTGGCTCGCCAGATTACACTGTTGGAGT
altered gDNA sequence snippet GGTACAAAGAACAGTGGCTCACCAGATTACACTGTTGGAGT
original cDNA sequence snippet GGTACAAAGAACAGTGGCTCGCCAGATTACACTGTTGGAGT
altered cDNA sequence snippet GGTACAAAGAACAGTGGCTCACCAGATTACACTGTTGGAGT
wildtype AA sequence MVDGVMILPV LIMIALPSPS MEDEKPKVNP KLYMCVCEGL SCGNEDHCEG QQCFSSLSIN
DGFHVYQKGC FQVYEQGKMT CKTPPSPGQA VECCQGDWCN RNITAQLPTK GKSFPGTQNF
HLEVGLIILS VVFAVCLLAC LLGVALRKFK RRNQERLNPR DVEYGTIEGL ITTNVGDSTL
ADLLDHSCTS GSGSGLPFLV QRTVARQITL LECVGKGRYG EVWRGSWQGE NVAVKIFSSR
DEKSWFRETE LYNTVMLRHE NILGFIASDM TSRHSSTQLW LITHYHEMGS LYDYLQLTTL
DTVSCLRIVL SIASGLAHLH IEIFGTQGKP AIAHRDLKSK NILVKKNGQC CIADLGLAVM
HSQSTNQLDV GNNPRVGTKR YMAPEVLDET IQVDCFDSYK RVDIWAFGLV LWEVARRMVS
NGIVEDYKPP FYDVVPNDPS FEDMRKVVCV DQQRPNIPNR WFSDPTLTSL AKLMKECWYQ
NPSARLTALR IKKTLTKIDN SLDKLKTDC*
mutated AA sequence MVDGVMILPV LIMIALPSPS MEDEKPKVNP KLYMCVCEGL SCGNEDHCEG QQCFSSLSIN
DGFHVYQKGC FQVYEQGKMT CKTPPSPGQA VECCQGDWCN RNITAQLPTK GKSFPGTQNF
HLEVGLIILS VVFAVCLLAC LLGVALRKFK RRNQERLNPR DVEYGTIEGL ITTNVGDSTL
ADLLDHSCTS GSGSGLPFLV QRTVAHQITL LECVGKGRYG EVWRGSWQGE NVAVKIFSSR
DEKSWFRETE LYNTVMLRHE NILGFIASDM TSRHSSTQLW LITHYHEMGS LYDYLQLTTL
DTVSCLRIVL SIASGLAHLH IEIFGTQGKP AIAHRDLKSK NILVKKNGQC CIADLGLAVM
HSQSTNQLDV GNNPRVGTKR YMAPEVLDET IQVDCFDSYK RVDIWAFGLV LWEVARRMVS
NGIVEDYKPP FYDVVPNDPS FEDMRKVVCV DQQRPNIPNR WFSDPTLTSL AKLMKECWYQ
NPSARLTALR IKKTLTKIDN SLDKLKTDC*
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

disease causing

 Model: simple_aae, prob: 0.999999999993172 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM061633)
  • known disease mutation: rs18309 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr2:158630626C>TN/A show variant in all transcripts   IGV
HGNC symbol ACVR1
Ensembl transcript ID ENST00000409283
Genbank transcript ID N/A
UniProt peptide Q04771
alteration type single base exchange
alteration region CDS
DNA changes c.617G>A
cDNA.884G>A
g.101749G>A
AA changes R206H Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 206
frameshift no
known variant Reference ID: rs121912678
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs18309 (pathogenic for Progressive myositis ossificans|Inborn genetic diseases|not provided) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM061633)

known disease mutation at this position, please check HGMD for details (HGMD ID CM061633)
known disease mutation at this position, please check HGMD for details (HGMD ID CM061633)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.0240.988
6.1991
(flanking)4.4131
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased101741wt: 0.67 / mu: 0.79wt: AGAACAGTGGCTCGC
mu: AGAACAGTGGCTCAC		 AACA|gtgg
Donor increased101752wt: 0.50 / mu: 0.72wt: TCGCCAGATTACACT
mu: TCACCAGATTACACT		 GCCA|gatt
Donor gained1017490.75mu: GGCTCACCAGATTAC CTCA|ccag
distance from splice site 27
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      206GLPFLVQRTVARQITLLECVGKGR
mutated  not conserved    206GLPFLVQRTVAHQITLLECVGKG
Ptroglodytes  all identical  ENSPTRG00000012555  206GLPFLVQRTVARQITLLECVGKG
Mmulatta  all identical  ENSMMUG00000018497  206GLPFLVQRTVARQITLLECVGKG
Fcatus  all identical  ENSFCAG00000008054  206GLLFLVQRTVARQITLLECVGKG
Mmusculus  all identical  ENSMUSG00000026836  206GLPFLVQRTVARQITLLECVGKG
Ggallus  all identical  ENSGALG00000012551  25GLPFLVQRTVARQITLVECVGKG
Trubripes  all identical  ENSTRUG00000007007  210QRTVARQITLNECVGKG
Drerio  all identical  ENSDARG00000014986  203GLPFLVQRTVARQIS
Dmelanogaster  all conserved  FBgn0003317  257GLPLLVQRTLAKQVTLIE
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000010380  209GLPFLVQRTVARQITLAECVGKG
protein features
start (aa)end (aa)featuredetails 
147509TOPO_DOMCytoplasmic (Potential).lost
178207DOMAINGS.lost
205207HELIXlost
208502DOMAINProtein kinase.might get lost (downstream of altered splice site)
209216STRANDmight get lost (downstream of altered splice site)
214222NP_BINDATP (By similarity).might get lost (downstream of altered splice site)
218227STRANDmight get lost (downstream of altered splice site)
226226MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
230237STRANDmight get lost (downstream of altered splice site)
235235BINDINGATP (By similarity).might get lost (downstream of altered splice site)
239241HELIXmight get lost (downstream of altered splice site)
242254HELIXmight get lost (downstream of altered splice site)
265273STRANDmight get lost (downstream of altered splice site)
276283STRANDmight get lost (downstream of altered splice site)
291295HELIXmight get lost (downstream of altered splice site)
302320HELIXmight get lost (downstream of altered splice site)
325327STRANDmight get lost (downstream of altered splice site)
331333STRANDmight get lost (downstream of altered splice site)
336336ACT_SITEProton acceptor (By similarity).might get lost (downstream of altered splice site)
339341HELIXmight get lost (downstream of altered splice site)
342344STRANDmight get lost (downstream of altered splice site)
350352STRANDmight get lost (downstream of altered splice site)
359362STRANDmight get lost (downstream of altered splice site)
363366TURNmight get lost (downstream of altered splice site)
367369STRANDmight get lost (downstream of altered splice site)
379381HELIXmight get lost (downstream of altered splice site)
384387HELIXmight get lost (downstream of altered splice site)
396415HELIXmight get lost (downstream of altered splice site)
430434TURNmight get lost (downstream of altered splice site)
441448HELIXmight get lost (downstream of altered splice site)
459463HELIXmight get lost (downstream of altered splice site)
465477HELIXmight get lost (downstream of altered splice site)
482484HELIXmight get lost (downstream of altered splice site)
488498HELIXmight get lost (downstream of altered splice site)
501501MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1530 / 1530
position (AA) of stopcodon in wt / mu AA sequence 510 / 510
position of stopcodon in wt / mu cDNA 1797 / 1797
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 268 / 268
chromosome 2
strand -1
last intron/exon boundary 1663
theoretical NMD boundary in CDS 1345
length of CDS 1530
coding sequence (CDS) position 617
cDNA position
(for ins/del: last normal base / first normal base)		 884
gDNA position
(for ins/del: last normal base / first normal base)		 101749
chromosomal position
(for ins/del: last normal base / first normal base)		 158630626
original gDNA sequence snippet GGTACAAAGAACAGTGGCTCGCCAGATTACACTGTTGGAGT
altered gDNA sequence snippet GGTACAAAGAACAGTGGCTCACCAGATTACACTGTTGGAGT
original cDNA sequence snippet GGTACAAAGAACAGTGGCTCGCCAGATTACACTGTTGGAGT
altered cDNA sequence snippet GGTACAAAGAACAGTGGCTCACCAGATTACACTGTTGGAGT
wildtype AA sequence MVDGVMILPV LIMIALPSPS MEDEKPKVNP KLYMCVCEGL SCGNEDHCEG QQCFSSLSIN
DGFHVYQKGC FQVYEQGKMT CKTPPSPGQA VECCQGDWCN RNITAQLPTK GKSFPGTQNF
HLEVGLIILS VVFAVCLLAC LLGVALRKFK RRNQERLNPR DVEYGTIEGL ITTNVGDSTL
ADLLDHSCTS GSGSGLPFLV QRTVARQITL LECVGKGRYG EVWRGSWQGE NVAVKIFSSR
DEKSWFRETE LYNTVMLRHE NILGFIASDM TSRHSSTQLW LITHYHEMGS LYDYLQLTTL
DTVSCLRIVL SIASGLAHLH IEIFGTQGKP AIAHRDLKSK NILVKKNGQC CIADLGLAVM
HSQSTNQLDV GNNPRVGTKR YMAPEVLDET IQVDCFDSYK RVDIWAFGLV LWEVARRMVS
NGIVEDYKPP FYDVVPNDPS FEDMRKVVCV DQQRPNIPNR WFSDPTLTSL AKLMKECWYQ
NPSARLTALR IKKTLTKIDN SLDKLKTDC*
mutated AA sequence MVDGVMILPV LIMIALPSPS MEDEKPKVNP KLYMCVCEGL SCGNEDHCEG QQCFSSLSIN
DGFHVYQKGC FQVYEQGKMT CKTPPSPGQA VECCQGDWCN RNITAQLPTK GKSFPGTQNF
HLEVGLIILS VVFAVCLLAC LLGVALRKFK RRNQERLNPR DVEYGTIEGL ITTNVGDSTL
ADLLDHSCTS GSGSGLPFLV QRTVAHQITL LECVGKGRYG EVWRGSWQGE NVAVKIFSSR
DEKSWFRETE LYNTVMLRHE NILGFIASDM TSRHSSTQLW LITHYHEMGS LYDYLQLTTL
DTVSCLRIVL SIASGLAHLH IEIFGTQGKP AIAHRDLKSK NILVKKNGQC CIADLGLAVM
HSQSTNQLDV GNNPRVGTKR YMAPEVLDET IQVDCFDSYK RVDIWAFGLV LWEVARRMVS
NGIVEDYKPP FYDVVPNDPS FEDMRKVVCV DQQRPNIPNR WFSDPTLTSL AKLMKECWYQ
NPSARLTALR IKKTLTKIDN SLDKLKTDC*
speed 1.34 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: 0.999999999993172 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM061633)
  • known disease mutation: rs18309 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr2:158630626C>TN/A show variant in all transcripts   IGV
HGNC symbol ACVR1
Ensembl transcript ID ENST00000410057
Genbank transcript ID N/A
UniProt peptide Q04771
alteration type single base exchange
alteration region CDS
DNA changes c.617G>A
cDNA.956G>A
g.101749G>A
AA changes R206H Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 206
frameshift no
known variant Reference ID: rs121912678
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs18309 (pathogenic for Progressive myositis ossificans|Inborn genetic diseases|not provided) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM061633)

known disease mutation at this position, please check HGMD for details (HGMD ID CM061633)
known disease mutation at this position, please check HGMD for details (HGMD ID CM061633)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.0240.988
6.1991
(flanking)4.4131
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased101741wt: 0.67 / mu: 0.79wt: AGAACAGTGGCTCGC
mu: AGAACAGTGGCTCAC		 AACA|gtgg
Donor increased101752wt: 0.50 / mu: 0.72wt: TCGCCAGATTACACT
mu: TCACCAGATTACACT		 GCCA|gatt
Donor gained1017490.75mu: GGCTCACCAGATTAC CTCA|ccag
distance from splice site 27
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      206GLPFLVQRTVARQITLLECVGKGR
mutated  not conserved    206GLPFLVQRTVAHQITLLECVGKG
Ptroglodytes  all identical  ENSPTRG00000012555  206GLPFLVQRTVARQITLLECVGKG
Mmulatta  all identical  ENSMMUG00000018497  206GLPFLVQRTVARQITLLECVGKG
Fcatus  all identical  ENSFCAG00000008054  206GLLFLVQRTVARQITLLECVGKG
Mmusculus  all identical  ENSMUSG00000026836  206GLPFLVQRTVARQITLLECVGKG
Ggallus  all identical  ENSGALG00000012551  25GLPFLVQRTVARQITLVECVGKG
Trubripes  all identical  ENSTRUG00000007007  210QRTVARQITLNECVGKG
Drerio  all identical  ENSDARG00000014986  203GLPFLVQRTVARQIS
Dmelanogaster  all conserved  FBgn0003317  257GLPLLVQRTLAKQVTLIE
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000010380  209GLPFLVQRTVARQITLAECVGKG
protein features
start (aa)end (aa)featuredetails 
147509TOPO_DOMCytoplasmic (Potential).lost
178207DOMAINGS.lost
205207HELIXlost
208502DOMAINProtein kinase.might get lost (downstream of altered splice site)
209216STRANDmight get lost (downstream of altered splice site)
214222NP_BINDATP (By similarity).might get lost (downstream of altered splice site)
218227STRANDmight get lost (downstream of altered splice site)
226226MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
230237STRANDmight get lost (downstream of altered splice site)
235235BINDINGATP (By similarity).might get lost (downstream of altered splice site)
239241HELIXmight get lost (downstream of altered splice site)
242254HELIXmight get lost (downstream of altered splice site)
265273STRANDmight get lost (downstream of altered splice site)
276283STRANDmight get lost (downstream of altered splice site)
291295HELIXmight get lost (downstream of altered splice site)
302320HELIXmight get lost (downstream of altered splice site)
325327STRANDmight get lost (downstream of altered splice site)
331333STRANDmight get lost (downstream of altered splice site)
336336ACT_SITEProton acceptor (By similarity).might get lost (downstream of altered splice site)
339341HELIXmight get lost (downstream of altered splice site)
342344STRANDmight get lost (downstream of altered splice site)
350352STRANDmight get lost (downstream of altered splice site)
359362STRANDmight get lost (downstream of altered splice site)
363366TURNmight get lost (downstream of altered splice site)
367369STRANDmight get lost (downstream of altered splice site)
379381HELIXmight get lost (downstream of altered splice site)
384387HELIXmight get lost (downstream of altered splice site)
396415HELIXmight get lost (downstream of altered splice site)
430434TURNmight get lost (downstream of altered splice site)
441448HELIXmight get lost (downstream of altered splice site)
459463HELIXmight get lost (downstream of altered splice site)
465477HELIXmight get lost (downstream of altered splice site)
482484HELIXmight get lost (downstream of altered splice site)
488498HELIXmight get lost (downstream of altered splice site)
501501MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1530 / 1530
position (AA) of stopcodon in wt / mu AA sequence 510 / 510
position of stopcodon in wt / mu cDNA 1869 / 1869
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 340 / 340
chromosome 2
strand -1
last intron/exon boundary 1735
theoretical NMD boundary in CDS 1345
length of CDS 1530
coding sequence (CDS) position 617
cDNA position
(for ins/del: last normal base / first normal base)		 956
gDNA position
(for ins/del: last normal base / first normal base)		 101749
chromosomal position
(for ins/del: last normal base / first normal base)		 158630626
original gDNA sequence snippet GGTACAAAGAACAGTGGCTCGCCAGATTACACTGTTGGAGT
altered gDNA sequence snippet GGTACAAAGAACAGTGGCTCACCAGATTACACTGTTGGAGT
original cDNA sequence snippet GGTACAAAGAACAGTGGCTCGCCAGATTACACTGTTGGAGT
altered cDNA sequence snippet GGTACAAAGAACAGTGGCTCACCAGATTACACTGTTGGAGT
wildtype AA sequence MVDGVMILPV LIMIALPSPS MEDEKPKVNP KLYMCVCEGL SCGNEDHCEG QQCFSSLSIN
DGFHVYQKGC FQVYEQGKMT CKTPPSPGQA VECCQGDWCN RNITAQLPTK GKSFPGTQNF
HLEVGLIILS VVFAVCLLAC LLGVALRKFK RRNQERLNPR DVEYGTIEGL ITTNVGDSTL
ADLLDHSCTS GSGSGLPFLV QRTVARQITL LECVGKGRYG EVWRGSWQGE NVAVKIFSSR
DEKSWFRETE LYNTVMLRHE NILGFIASDM TSRHSSTQLW LITHYHEMGS LYDYLQLTTL
DTVSCLRIVL SIASGLAHLH IEIFGTQGKP AIAHRDLKSK NILVKKNGQC CIADLGLAVM
HSQSTNQLDV GNNPRVGTKR YMAPEVLDET IQVDCFDSYK RVDIWAFGLV LWEVARRMVS
NGIVEDYKPP FYDVVPNDPS FEDMRKVVCV DQQRPNIPNR WFSDPTLTSL AKLMKECWYQ
NPSARLTALR IKKTLTKIDN SLDKLKTDC*
mutated AA sequence MVDGVMILPV LIMIALPSPS MEDEKPKVNP KLYMCVCEGL SCGNEDHCEG QQCFSSLSIN
DGFHVYQKGC FQVYEQGKMT CKTPPSPGQA VECCQGDWCN RNITAQLPTK GKSFPGTQNF
HLEVGLIILS VVFAVCLLAC LLGVALRKFK RRNQERLNPR DVEYGTIEGL ITTNVGDSTL
ADLLDHSCTS GSGSGLPFLV QRTVAHQITL LECVGKGRYG EVWRGSWQGE NVAVKIFSSR
DEKSWFRETE LYNTVMLRHE NILGFIASDM TSRHSSTQLW LITHYHEMGS LYDYLQLTTL
DTVSCLRIVL SIASGLAHLH IEIFGTQGKP AIAHRDLKSK NILVKKNGQC CIADLGLAVM
HSQSTNQLDV GNNPRVGTKR YMAPEVLDET IQVDCFDSYK RVDIWAFGLV LWEVARRMVS
NGIVEDYKPP FYDVVPNDPS FEDMRKVVCV DQQRPNIPNR WFSDPTLTSL AKLMKECWYQ
NPSARLTALR IKKTLTKIDN SLDKLKTDC*
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
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Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999999993172 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM061633)
  • known disease mutation: rs18309 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr2:158630626C>TN/A show variant in all transcripts   IGV
HGNC symbol ACVR1
Ensembl transcript ID ENST00000434821
Genbank transcript ID NM_001111067
UniProt peptide Q04771
alteration type single base exchange
alteration region CDS
DNA changes c.617G>A
cDNA.866G>A
g.101749G>A
AA changes R206H Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 206
frameshift no
known variant Reference ID: rs121912678
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs18309 (pathogenic for Progressive myositis ossificans|Inborn genetic diseases|not provided) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM061633)

known disease mutation at this position, please check HGMD for details (HGMD ID CM061633)
known disease mutation at this position, please check HGMD for details (HGMD ID CM061633)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.0240.988
6.1991
(flanking)4.4131
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased101741wt: 0.67 / mu: 0.79wt: AGAACAGTGGCTCGC
mu: AGAACAGTGGCTCAC		 AACA|gtgg
Donor increased101752wt: 0.50 / mu: 0.72wt: TCGCCAGATTACACT
mu: TCACCAGATTACACT		 GCCA|gatt
Donor gained1017490.75mu: GGCTCACCAGATTAC CTCA|ccag
distance from splice site 27
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      206GLPFLVQRTVARQITLLECVGKGR
mutated  not conserved    206GLPFLVQRTVAHQITLLECVGKG
Ptroglodytes  all identical  ENSPTRG00000012555  206GLPFLVQRTVARQITLLECVGKG
Mmulatta  all identical  ENSMMUG00000018497  206GLPFLVQRTVARQITLLECVGKG
Fcatus  all identical  ENSFCAG00000008054  206GLLFLVQRTVARQITLLECVGKG
Mmusculus  all identical  ENSMUSG00000026836  206GLPFLVQRTVARQITLLECVGKG
Ggallus  all identical  ENSGALG00000012551  25GLPFLVQRTVARQITLVECVGKG
Trubripes  all identical  ENSTRUG00000007007  210QRTVARQITLNECVGKG
Drerio  all identical  ENSDARG00000014986  203GLPFLVQRTVARQIS
Dmelanogaster  all conserved  FBgn0003317  257GLPLLVQRTLAKQVTLIE
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000010380  209GLPFLVQRTVARQITLAECVGKG
protein features
start (aa)end (aa)featuredetails 
147509TOPO_DOMCytoplasmic (Potential).lost
178207DOMAINGS.lost
205207HELIXlost
208502DOMAINProtein kinase.might get lost (downstream of altered splice site)
209216STRANDmight get lost (downstream of altered splice site)
214222NP_BINDATP (By similarity).might get lost (downstream of altered splice site)
218227STRANDmight get lost (downstream of altered splice site)
226226MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
230237STRANDmight get lost (downstream of altered splice site)
235235BINDINGATP (By similarity).might get lost (downstream of altered splice site)
239241HELIXmight get lost (downstream of altered splice site)
242254HELIXmight get lost (downstream of altered splice site)
265273STRANDmight get lost (downstream of altered splice site)
276283STRANDmight get lost (downstream of altered splice site)
291295HELIXmight get lost (downstream of altered splice site)
302320HELIXmight get lost (downstream of altered splice site)
325327STRANDmight get lost (downstream of altered splice site)
331333STRANDmight get lost (downstream of altered splice site)
336336ACT_SITEProton acceptor (By similarity).might get lost (downstream of altered splice site)
339341HELIXmight get lost (downstream of altered splice site)
342344STRANDmight get lost (downstream of altered splice site)
350352STRANDmight get lost (downstream of altered splice site)
359362STRANDmight get lost (downstream of altered splice site)
363366TURNmight get lost (downstream of altered splice site)
367369STRANDmight get lost (downstream of altered splice site)
379381HELIXmight get lost (downstream of altered splice site)
384387HELIXmight get lost (downstream of altered splice site)
396415HELIXmight get lost (downstream of altered splice site)
430434TURNmight get lost (downstream of altered splice site)
441448HELIXmight get lost (downstream of altered splice site)
459463HELIXmight get lost (downstream of altered splice site)
465477HELIXmight get lost (downstream of altered splice site)
482484HELIXmight get lost (downstream of altered splice site)
488498HELIXmight get lost (downstream of altered splice site)
501501MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1530 / 1530
position (AA) of stopcodon in wt / mu AA sequence 510 / 510
position of stopcodon in wt / mu cDNA 1779 / 1779
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 250 / 250
chromosome 2
strand -1
last intron/exon boundary 1645
theoretical NMD boundary in CDS 1345
length of CDS 1530
coding sequence (CDS) position 617
cDNA position
(for ins/del: last normal base / first normal base)		 866
gDNA position
(for ins/del: last normal base / first normal base)		 101749
chromosomal position
(for ins/del: last normal base / first normal base)		 158630626
original gDNA sequence snippet GGTACAAAGAACAGTGGCTCGCCAGATTACACTGTTGGAGT
altered gDNA sequence snippet GGTACAAAGAACAGTGGCTCACCAGATTACACTGTTGGAGT
original cDNA sequence snippet GGTACAAAGAACAGTGGCTCGCCAGATTACACTGTTGGAGT
altered cDNA sequence snippet GGTACAAAGAACAGTGGCTCACCAGATTACACTGTTGGAGT
wildtype AA sequence MVDGVMILPV LIMIALPSPS MEDEKPKVNP KLYMCVCEGL SCGNEDHCEG QQCFSSLSIN
DGFHVYQKGC FQVYEQGKMT CKTPPSPGQA VECCQGDWCN RNITAQLPTK GKSFPGTQNF
HLEVGLIILS VVFAVCLLAC LLGVALRKFK RRNQERLNPR DVEYGTIEGL ITTNVGDSTL
ADLLDHSCTS GSGSGLPFLV QRTVARQITL LECVGKGRYG EVWRGSWQGE NVAVKIFSSR
DEKSWFRETE LYNTVMLRHE NILGFIASDM TSRHSSTQLW LITHYHEMGS LYDYLQLTTL
DTVSCLRIVL SIASGLAHLH IEIFGTQGKP AIAHRDLKSK NILVKKNGQC CIADLGLAVM
HSQSTNQLDV GNNPRVGTKR YMAPEVLDET IQVDCFDSYK RVDIWAFGLV LWEVARRMVS
NGIVEDYKPP FYDVVPNDPS FEDMRKVVCV DQQRPNIPNR WFSDPTLTSL AKLMKECWYQ
NPSARLTALR IKKTLTKIDN SLDKLKTDC*
mutated AA sequence MVDGVMILPV LIMIALPSPS MEDEKPKVNP KLYMCVCEGL SCGNEDHCEG QQCFSSLSIN
DGFHVYQKGC FQVYEQGKMT CKTPPSPGQA VECCQGDWCN RNITAQLPTK GKSFPGTQNF
HLEVGLIILS VVFAVCLLAC LLGVALRKFK RRNQERLNPR DVEYGTIEGL ITTNVGDSTL
ADLLDHSCTS GSGSGLPFLV QRTVAHQITL LECVGKGRYG EVWRGSWQGE NVAVKIFSSR
DEKSWFRETE LYNTVMLRHE NILGFIASDM TSRHSSTQLW LITHYHEMGS LYDYLQLTTL
DTVSCLRIVL SIASGLAHLH IEIFGTQGKP AIAHRDLKSK NILVKKNGQC CIADLGLAVM
HSQSTNQLDV GNNPRVGTKR YMAPEVLDET IQVDCFDSYK RVDIWAFGLV LWEVARRMVS
NGIVEDYKPP FYDVVPNDPS FEDMRKVVCV DQQRPNIPNR WFSDPTLTSL AKLMKECWYQ
NPSARLTALR IKKTLTKIDN SLDKLKTDC*
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

Problems