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 6 transcript(s)...
Querying Taster for transcript #1: ENST00000515059
Querying Taster for transcript #2: ENST00000512312
Querying Taster for transcript #3: ENST00000509540
Querying Taster for transcript #4: ENST00000264568
Querying Taster for transcript #5: ENST00000394931
Querying Taster for transcript #6: ENST00000440890
MT speed 0 s - this script 4.221813 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
BMPR1Bdisease_causing_automatic0.999999998143819simple_aae0R516Wsingle base exchangers121434418show file
BMPR1Bdisease_causing_automatic0.99999999985585simple_aae0R486Wsingle base exchangers121434418show file
BMPR1Bdisease_causing_automatic0.99999999985585simple_aae0R486Wsingle base exchangers121434418show file
BMPR1Bdisease_causing_automatic0.99999999985585simple_aae0R486Wsingle base exchangers121434418show file
BMPR1Bdisease_causing_automatic0.99999999985585simple_aae0R486Wsingle base exchangers121434418show file
BMPR1Bdisease_causing_automatic0.99999999985585simple_aae0R486Wsingle base exchangers121434418show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999998143819 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM032860)
  • known disease mutation: rs6556 (pathogenic)
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr4:96075771C>TN/A show variant in all transcripts   IGV
HGNC symbol BMPR1B
Ensembl transcript ID ENST00000440890
Genbank transcript ID N/A
UniProt peptide O00238
alteration type single base exchange
alteration region CDS
DNA changes c.1546C>T
cDNA.1567C>T
g.396653C>T
AA changes R516W Score: 101 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 516
frameshift no
known variant Reference ID: rs121434418
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs6556 (pathogenic for Brachydactyly type A2) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM032860)

known disease mutation at this position, please check HGMD for details (HGMD ID CM032860)
known disease mutation at this position, please check HGMD for details (HGMD ID CM032860)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.3930.874
2.6210.998
(flanking)6.3050.999
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 73
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      516AHNPASRLTALRVKKTLAKMSESQ
mutated  not conserved    516AHNPASRLTALWVKKTLAKMSES
Ptroglodytes  all identical  ENSPTRG00000016293  515AHNPASRLTALRVKKTLAKMSES
Mmulatta  all identical  ENSMMUG00000006702  486RLTALRVKKTLAKMSES
Fcatus  all identical  ENSFCAG00000015084  486XXXXXSRLTALRVKKTLAKMSES
Mmusculus  all identical  ENSMUSG00000052430  486RLTALRVKKTLAKMSES
Ggallus  all identical  ENSGALG00000012216  519AHNPASRLTALRVKKTLAKMSES
Trubripes  all identical  ENSTRUG00000013761  519AHSPASRLTALRVKKTLAKMLES
Drerio  all identical  ENSDARG00000031219  338AHNPASRLTALRVKKTLAKMSES
Dmelanogaster  all identical  FBgn0003716  554HPNPTVRLTALRVKKTLGRL
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000019220  516AHNPASRLTALRVKKTLAKMSES
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1599 / 1599
position (AA) of stopcodon in wt / mu AA sequence 533 / 533
position of stopcodon in wt / mu cDNA 1620 / 1620
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 22 / 22
chromosome 4
strand 1
last intron/exon boundary 1495
theoretical NMD boundary in CDS 1423
length of CDS 1599
coding sequence (CDS) position 1546
cDNA position
(for ins/del: last normal base / first normal base)		 1567
gDNA position
(for ins/del: last normal base / first normal base)		 396653
chromosomal position
(for ins/del: last normal base / first normal base)		 96075771
original gDNA sequence snippet CATCAAGGCTGACAGCCCTGCGGGTTAAGAAAACACTTGCC
altered gDNA sequence snippet CATCAAGGCTGACAGCCCTGTGGGTTAAGAAAACACTTGCC
original cDNA sequence snippet CATCAAGGCTGACAGCCCTGCGGGTTAAGAAAACACTTGCC
altered cDNA sequence snippet CATCAAGGCTGACAGCCCTGTGGGTTAAGAAAACACTTGCC
wildtype AA sequence MGWLEELNWQ LHIFLLILLS MHTRANFLDN MLLRSAGKLN VGTKKEDGES TAPTPRPKVL
RCKCHHHCPE DSVNNICSTD GYCFTMIEED DSGLPVVTSG CLGLEGSDFQ CRDTPIPHQR
RSIECCTERN ECNKDLHPTL PPLKNRDFVD GPIHHRALLI SVTVCSLLLV LIILFCYFRY
KRQETRPRYS IGLEQDETYI PPGESLRDLI EQSQSSGSGS GLPLLVQRTI AKQIQMVKQI
GKGRYGEVWM GKWRGEKVAV KVFFTTEEAS WFRETEIYQT VLMRHENILG FIAADIKGTG
SWTQLYLITD YHENGSLYDY LKSTTLDAKS MLKLAYSSVS GLCHLHTEIF STQGKPAIAH
RDLKSKNILV KKNGTCCIAD LGLAVKFISD TNEVDIPPNT RVGTKRYMPP EVLDESLNRN
HFQSYIMADM YSFGLILWEV ARRCVSGGIV EEYQLPYHDL VPSDPSYEDM REIVCIKKLR
PSFPNRWSSD ECLRQMGKLM TECWAHNPAS RLTALRVKKT LAKMSESQDI KL*
mutated AA sequence MGWLEELNWQ LHIFLLILLS MHTRANFLDN MLLRSAGKLN VGTKKEDGES TAPTPRPKVL
RCKCHHHCPE DSVNNICSTD GYCFTMIEED DSGLPVVTSG CLGLEGSDFQ CRDTPIPHQR
RSIECCTERN ECNKDLHPTL PPLKNRDFVD GPIHHRALLI SVTVCSLLLV LIILFCYFRY
KRQETRPRYS IGLEQDETYI PPGESLRDLI EQSQSSGSGS GLPLLVQRTI AKQIQMVKQI
GKGRYGEVWM GKWRGEKVAV KVFFTTEEAS WFRETEIYQT VLMRHENILG FIAADIKGTG
SWTQLYLITD YHENGSLYDY LKSTTLDAKS MLKLAYSSVS GLCHLHTEIF STQGKPAIAH
RDLKSKNILV KKNGTCCIAD LGLAVKFISD TNEVDIPPNT RVGTKRYMPP EVLDESLNRN
HFQSYIMADM YSFGLILWEV ARRCVSGGIV EEYQLPYHDL VPSDPSYEDM REIVCIKKLR
PSFPNRWSSD ECLRQMGKLM TECWAHNPAS RLTALWVKKT LAKMSESQDI KL*
speed 0.38 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: 0.99999999985585 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM032860)
  • known disease mutation: rs6556 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr4:96075771C>TN/A show variant in all transcripts   IGV
HGNC symbol BMPR1B
Ensembl transcript ID ENST00000515059
Genbank transcript ID NM_001203
UniProt peptide O00238
alteration type single base exchange
alteration region CDS
DNA changes c.1456C>T
cDNA.1739C>T
g.396653C>T
AA changes R486W Score: 101 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 486
frameshift no
known variant Reference ID: rs121434418
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs6556 (pathogenic for Brachydactyly type A2) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM032860)

known disease mutation at this position, please check HGMD for details (HGMD ID CM032860)
known disease mutation at this position, please check HGMD for details (HGMD ID CM032860)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.3930.874
2.6210.998
(flanking)6.3050.999
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 73
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      486AHNPASRLTALRVKKTLAKMSESQ
mutated  not conserved    486RLTALWVKKTLAKMSES
Ptroglodytes  all identical  ENSPTRG00000016293  515RLTALRVKKTLAKMSES
Mmulatta  all identical  ENSMMUG00000006702  486RLTALRVKKTLAKMSES
Fcatus  all identical  ENSFCAG00000015084  486XXXXXSRLTALRVKKTLAKMSES
Mmusculus  all identical  ENSMUSG00000052430  486RLTALRVKKTLAKMSES
Ggallus  all identical  ENSGALG00000012216  519RLTALRVKKTLAKMSES
Trubripes  all identical  ENSTRUG00000013761  519PASRLTALRVKKTLAKMLES
Drerio  all identical  ENSDARG00000031219  338AHNPASRLTALRVKKTLAKMSES
Dmelanogaster  all identical  FBgn0003716  554HPNPTVRLTALRVKKTLGRL
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000019220  516RLTALRVKKTLAKMSES
protein features
start (aa)end (aa)featuredetails 
149502TOPO_DOMCytoplasmic (Potential).lost
204494DOMAINProtein kinase.lost
484496HELIXlost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1509 / 1509
position (AA) of stopcodon in wt / mu AA sequence 503 / 503
position of stopcodon in wt / mu cDNA 1792 / 1792
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 284 / 284
chromosome 4
strand 1
last intron/exon boundary 1667
theoretical NMD boundary in CDS 1333
length of CDS 1509
coding sequence (CDS) position 1456
cDNA position
(for ins/del: last normal base / first normal base)		 1739
gDNA position
(for ins/del: last normal base / first normal base)		 396653
chromosomal position
(for ins/del: last normal base / first normal base)		 96075771
original gDNA sequence snippet CATCAAGGCTGACAGCCCTGCGGGTTAAGAAAACACTTGCC
altered gDNA sequence snippet CATCAAGGCTGACAGCCCTGTGGGTTAAGAAAACACTTGCC
original cDNA sequence snippet CATCAAGGCTGACAGCCCTGCGGGTTAAGAAAACACTTGCC
altered cDNA sequence snippet CATCAAGGCTGACAGCCCTGTGGGTTAAGAAAACACTTGCC
wildtype AA sequence MLLRSAGKLN VGTKKEDGES TAPTPRPKVL RCKCHHHCPE DSVNNICSTD GYCFTMIEED
DSGLPVVTSG CLGLEGSDFQ CRDTPIPHQR RSIECCTERN ECNKDLHPTL PPLKNRDFVD
GPIHHRALLI SVTVCSLLLV LIILFCYFRY KRQETRPRYS IGLEQDETYI PPGESLRDLI
EQSQSSGSGS GLPLLVQRTI AKQIQMVKQI GKGRYGEVWM GKWRGEKVAV KVFFTTEEAS
WFRETEIYQT VLMRHENILG FIAADIKGTG SWTQLYLITD YHENGSLYDY LKSTTLDAKS
MLKLAYSSVS GLCHLHTEIF STQGKPAIAH RDLKSKNILV KKNGTCCIAD LGLAVKFISD
TNEVDIPPNT RVGTKRYMPP EVLDESLNRN HFQSYIMADM YSFGLILWEV ARRCVSGGIV
EEYQLPYHDL VPSDPSYEDM REIVCIKKLR PSFPNRWSSD ECLRQMGKLM TECWAHNPAS
RLTALRVKKT LAKMSESQDI KL*
mutated AA sequence MLLRSAGKLN VGTKKEDGES TAPTPRPKVL RCKCHHHCPE DSVNNICSTD GYCFTMIEED
DSGLPVVTSG CLGLEGSDFQ CRDTPIPHQR RSIECCTERN ECNKDLHPTL PPLKNRDFVD
GPIHHRALLI SVTVCSLLLV LIILFCYFRY KRQETRPRYS IGLEQDETYI PPGESLRDLI
EQSQSSGSGS GLPLLVQRTI AKQIQMVKQI GKGRYGEVWM GKWRGEKVAV KVFFTTEEAS
WFRETEIYQT VLMRHENILG FIAADIKGTG SWTQLYLITD YHENGSLYDY LKSTTLDAKS
MLKLAYSSVS GLCHLHTEIF STQGKPAIAH RDLKSKNILV KKNGTCCIAD LGLAVKFISD
TNEVDIPPNT RVGTKRYMPP EVLDESLNRN HFQSYIMADM YSFGLILWEV ARRCVSGGIV
EEYQLPYHDL VPSDPSYEDM REIVCIKKLR PSFPNRWSSD ECLRQMGKLM TECWAHNPAS
RLTALWVKKT LAKMSESQDI KL*
speed 0.44 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: 0.99999999985585 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM032860)
  • known disease mutation: rs6556 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr4:96075771C>TN/A show variant in all transcripts   IGV
HGNC symbol BMPR1B
Ensembl transcript ID ENST00000512312
Genbank transcript ID N/A
UniProt peptide O00238
alteration type single base exchange
alteration region CDS
DNA changes c.1456C>T
cDNA.1626C>T
g.396653C>T
AA changes R486W Score: 101 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 486
frameshift no
known variant Reference ID: rs121434418
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs6556 (pathogenic for Brachydactyly type A2) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM032860)

known disease mutation at this position, please check HGMD for details (HGMD ID CM032860)
known disease mutation at this position, please check HGMD for details (HGMD ID CM032860)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.3930.874
2.6210.998
(flanking)6.3050.999
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 54
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      486AHNPASRLTALRVKKTLAKMSESQ
mutated  not conserved    486RLTALWVKKTLAKMSES
Ptroglodytes  all identical  ENSPTRG00000016293  515RLTALRVKKTLAKMSES
Mmulatta  all identical  ENSMMUG00000006702  486RLTALRVKKTLAKMSES
Fcatus  all identical  ENSFCAG00000015084  486XXXXXSRLTALRVKKTLAKMSES
Mmusculus  all identical  ENSMUSG00000052430  486RLTALRVKKTLAKMSES
Ggallus  all identical  ENSGALG00000012216  519RLTALRVKKTLAKMSES
Trubripes  all identical  ENSTRUG00000013761  519PASRLTALRVKKTLAKMLES
Drerio  all identical  ENSDARG00000031219  338AHNPASRLTALRVKKTLAKMSES
Dmelanogaster  all identical  FBgn0003716  554HPNPTVRLTALRVKKTLGRL
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000019220  516RLTALRVKKTLAKMSES
protein features
start (aa)end (aa)featuredetails 
149502TOPO_DOMCytoplasmic (Potential).lost
204494DOMAINProtein kinase.lost
484496HELIXlost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1509 / 1509
position (AA) of stopcodon in wt / mu AA sequence 503 / 503
position of stopcodon in wt / mu cDNA 1679 / 1679
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 4
strand 1
last intron/exon boundary 1554
theoretical NMD boundary in CDS 1333
length of CDS 1509
coding sequence (CDS) position 1456
cDNA position
(for ins/del: last normal base / first normal base)		 1626
gDNA position
(for ins/del: last normal base / first normal base)		 396653
chromosomal position
(for ins/del: last normal base / first normal base)		 96075771
original gDNA sequence snippet CATCAAGGCTGACAGCCCTGCGGGTTAAGAAAACACTTGCC
altered gDNA sequence snippet CATCAAGGCTGACAGCCCTGTGGGTTAAGAAAACACTTGCC
original cDNA sequence snippet CATCAAGGCTGACAGCCCTGCGGGTTAAGAAAACACTTGCC
altered cDNA sequence snippet CATCAAGGCTGACAGCCCTGTGGGTTAAGAAAACACTTGCC
wildtype AA sequence MLLRSAGKLN VGTKKEDGES TAPTPRPKVL RCKCHHHCPE DSVNNICSTD GYCFTMIEED
DSGLPVVTSG CLGLEGSDFQ CRDTPIPHQR RSIECCTERN ECNKDLHPTL PPLKNRDFVD
GPIHHRALLI SVTVCSLLLV LIILFCYFRY KRQETRPRYS IGLEQDETYI PPGESLRDLI
EQSQSSGSGS GLPLLVQRTI AKQIQMVKQI GKGRYGEVWM GKWRGEKVAV KVFFTTEEAS
WFRETEIYQT VLMRHENILG FIAADIKGTG SWTQLYLITD YHENGSLYDY LKSTTLDAKS
MLKLAYSSVS GLCHLHTEIF STQGKPAIAH RDLKSKNILV KKNGTCCIAD LGLAVKFISD
TNEVDIPPNT RVGTKRYMPP EVLDESLNRN HFQSYIMADM YSFGLILWEV ARRCVSGGIV
EEYQLPYHDL VPSDPSYEDM REIVCIKKLR PSFPNRWSSD ECLRQMGKLM TECWAHNPAS
RLTALRVKKT LAKMSESQDI KL*
mutated AA sequence MLLRSAGKLN VGTKKEDGES TAPTPRPKVL RCKCHHHCPE DSVNNICSTD GYCFTMIEED
DSGLPVVTSG CLGLEGSDFQ CRDTPIPHQR RSIECCTERN ECNKDLHPTL PPLKNRDFVD
GPIHHRALLI SVTVCSLLLV LIILFCYFRY KRQETRPRYS IGLEQDETYI PPGESLRDLI
EQSQSSGSGS GLPLLVQRTI AKQIQMVKQI GKGRYGEVWM GKWRGEKVAV KVFFTTEEAS
WFRETEIYQT VLMRHENILG FIAADIKGTG SWTQLYLITD YHENGSLYDY LKSTTLDAKS
MLKLAYSSVS GLCHLHTEIF STQGKPAIAH RDLKSKNILV KKNGTCCIAD LGLAVKFISD
TNEVDIPPNT RVGTKRYMPP EVLDESLNRN HFQSYIMADM YSFGLILWEV ARRCVSGGIV
EEYQLPYHDL VPSDPSYEDM REIVCIKKLR PSFPNRWSSD ECLRQMGKLM TECWAHNPAS
RLTALWVKKT LAKMSESQDI KL*
speed 0.72 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: 0.99999999985585 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM032860)
  • known disease mutation: rs6556 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr4:96075771C>TN/A show variant in all transcripts   IGV
HGNC symbol BMPR1B
Ensembl transcript ID ENST00000509540
Genbank transcript ID N/A
UniProt peptide O00238
alteration type single base exchange
alteration region CDS
DNA changes c.1456C>T
cDNA.1567C>T
g.396653C>T
AA changes R486W Score: 101 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 486
frameshift no
known variant Reference ID: rs121434418
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs6556 (pathogenic for Brachydactyly type A2) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM032860)

known disease mutation at this position, please check HGMD for details (HGMD ID CM032860)
known disease mutation at this position, please check HGMD for details (HGMD ID CM032860)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.3930.874
2.6210.998
(flanking)6.3050.999
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 73
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      486AHNPASRLTALRVKKTLAKMSESQ
mutated  not conserved    486RLTALWVKKTLAKMSES
Ptroglodytes  all identical  ENSPTRG00000016293  515RLTALRVKKTLAKMSES
Mmulatta  all identical  ENSMMUG00000006702  486RLTALRVKKTLAKMSES
Fcatus  all identical  ENSFCAG00000015084  486XXXXXSRLTALRVKKTLAKMSES
Mmusculus  all identical  ENSMUSG00000052430  486RLTALRVKKTLAKMSES
Ggallus  all identical  ENSGALG00000012216  519RLTALRVKKTLAKMSES
Trubripes  all identical  ENSTRUG00000013761  519PASRLTALRVKKTLAKMLES
Drerio  all identical  ENSDARG00000031219  338AHNPASRLTALRVKKTLAKMSES
Dmelanogaster  all identical  FBgn0003716  554HPNPTVRLTALRVKKTLGRL
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000019220  516RLTALRVKKTLAKMSES
protein features
start (aa)end (aa)featuredetails 
149502TOPO_DOMCytoplasmic (Potential).lost
204494DOMAINProtein kinase.lost
484496HELIXlost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1509 / 1509
position (AA) of stopcodon in wt / mu AA sequence 503 / 503
position of stopcodon in wt / mu cDNA 1620 / 1620
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 112 / 112
chromosome 4
strand 1
last intron/exon boundary 1495
theoretical NMD boundary in CDS 1333
length of CDS 1509
coding sequence (CDS) position 1456
cDNA position
(for ins/del: last normal base / first normal base)		 1567
gDNA position
(for ins/del: last normal base / first normal base)		 396653
chromosomal position
(for ins/del: last normal base / first normal base)		 96075771
original gDNA sequence snippet CATCAAGGCTGACAGCCCTGCGGGTTAAGAAAACACTTGCC
altered gDNA sequence snippet CATCAAGGCTGACAGCCCTGTGGGTTAAGAAAACACTTGCC
original cDNA sequence snippet CATCAAGGCTGACAGCCCTGCGGGTTAAGAAAACACTTGCC
altered cDNA sequence snippet CATCAAGGCTGACAGCCCTGTGGGTTAAGAAAACACTTGCC
wildtype AA sequence MLLRSAGKLN VGTKKEDGES TAPTPRPKVL RCKCHHHCPE DSVNNICSTD GYCFTMIEED
DSGLPVVTSG CLGLEGSDFQ CRDTPIPHQR RSIECCTERN ECNKDLHPTL PPLKNRDFVD
GPIHHRALLI SVTVCSLLLV LIILFCYFRY KRQETRPRYS IGLEQDETYI PPGESLRDLI
EQSQSSGSGS GLPLLVQRTI AKQIQMVKQI GKGRYGEVWM GKWRGEKVAV KVFFTTEEAS
WFRETEIYQT VLMRHENILG FIAADIKGTG SWTQLYLITD YHENGSLYDY LKSTTLDAKS
MLKLAYSSVS GLCHLHTEIF STQGKPAIAH RDLKSKNILV KKNGTCCIAD LGLAVKFISD
TNEVDIPPNT RVGTKRYMPP EVLDESLNRN HFQSYIMADM YSFGLILWEV ARRCVSGGIV
EEYQLPYHDL VPSDPSYEDM REIVCIKKLR PSFPNRWSSD ECLRQMGKLM TECWAHNPAS
RLTALRVKKT LAKMSESQDI KL*
mutated AA sequence MLLRSAGKLN VGTKKEDGES TAPTPRPKVL RCKCHHHCPE DSVNNICSTD GYCFTMIEED
DSGLPVVTSG CLGLEGSDFQ CRDTPIPHQR RSIECCTERN ECNKDLHPTL PPLKNRDFVD
GPIHHRALLI SVTVCSLLLV LIILFCYFRY KRQETRPRYS IGLEQDETYI PPGESLRDLI
EQSQSSGSGS GLPLLVQRTI AKQIQMVKQI GKGRYGEVWM GKWRGEKVAV KVFFTTEEAS
WFRETEIYQT VLMRHENILG FIAADIKGTG SWTQLYLITD YHENGSLYDY LKSTTLDAKS
MLKLAYSSVS GLCHLHTEIF STQGKPAIAH RDLKSKNILV KKNGTCCIAD LGLAVKFISD
TNEVDIPPNT RVGTKRYMPP EVLDESLNRN HFQSYIMADM YSFGLILWEV ARRCVSGGIV
EEYQLPYHDL VPSDPSYEDM REIVCIKKLR PSFPNRWSSD ECLRQMGKLM TECWAHNPAS
RLTALWVKKT LAKMSESQDI KL*
speed 0.79 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: 0.99999999985585 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM032860)
  • known disease mutation: rs6556 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr4:96075771C>TN/A show variant in all transcripts   IGV
HGNC symbol BMPR1B
Ensembl transcript ID ENST00000264568
Genbank transcript ID N/A
UniProt peptide O00238
alteration type single base exchange
alteration region CDS
DNA changes c.1456C>T
cDNA.1610C>T
g.396653C>T
AA changes R486W Score: 101 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 486
frameshift no
known variant Reference ID: rs121434418
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs6556 (pathogenic for Brachydactyly type A2) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM032860)

known disease mutation at this position, please check HGMD for details (HGMD ID CM032860)
known disease mutation at this position, please check HGMD for details (HGMD ID CM032860)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.3930.874
2.6210.998
(flanking)6.3050.999
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 73
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      486AHNPASRLTALRVKKTLAKMSESQ
mutated  not conserved    486RLTALWVKKTLAKMSES
Ptroglodytes  all identical  ENSPTRG00000016293  515RLTALRVKKTLAKMSES
Mmulatta  all identical  ENSMMUG00000006702  486RLTALRVKKTLAKMSES
Fcatus  all identical  ENSFCAG00000015084  486XXXXXSRLTALRVKKTLAKMSES
Mmusculus  all identical  ENSMUSG00000052430  486RLTALRVKKTLAKMSES
Ggallus  all identical  ENSGALG00000012216  519RLTALRVKKTLAKMSES
Trubripes  all identical  ENSTRUG00000013761  519PASRLTALRVKKTLAKMLES
Drerio  all identical  ENSDARG00000031219  338AHNPASRLTALRVKKTLAKMSES
Dmelanogaster  all identical  FBgn0003716  554HPNPTVRLTALRVKKTLGRL
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000019220  516RLTALRVKKTLAKMSES
protein features
start (aa)end (aa)featuredetails 
149502TOPO_DOMCytoplasmic (Potential).lost
204494DOMAINProtein kinase.lost
484496HELIXlost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1509 / 1509
position (AA) of stopcodon in wt / mu AA sequence 503 / 503
position of stopcodon in wt / mu cDNA 1663 / 1663
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 4
strand 1
last intron/exon boundary 1538
theoretical NMD boundary in CDS 1333
length of CDS 1509
coding sequence (CDS) position 1456
cDNA position
(for ins/del: last normal base / first normal base)		 1610
gDNA position
(for ins/del: last normal base / first normal base)		 396653
chromosomal position
(for ins/del: last normal base / first normal base)		 96075771
original gDNA sequence snippet CATCAAGGCTGACAGCCCTGCGGGTTAAGAAAACACTTGCC
altered gDNA sequence snippet CATCAAGGCTGACAGCCCTGTGGGTTAAGAAAACACTTGCC
original cDNA sequence snippet CATCAAGGCTGACAGCCCTGCGGGTTAAGAAAACACTTGCC
altered cDNA sequence snippet CATCAAGGCTGACAGCCCTGTGGGTTAAGAAAACACTTGCC
wildtype AA sequence MLLRSAGKLN VGTKKEDGES TAPTPRPKVL RCKCHHHCPE DSVNNICSTD GYCFTMIEED
DSGLPVVTSG CLGLEGSDFQ CRDTPIPHQR RSIECCTERN ECNKDLHPTL PPLKNRDFVD
GPIHHRALLI SVTVCSLLLV LIILFCYFRY KRQETRPRYS IGLEQDETYI PPGESLRDLI
EQSQSSGSGS GLPLLVQRTI AKQIQMVKQI GKGRYGEVWM GKWRGEKVAV KVFFTTEEAS
WFRETEIYQT VLMRHENILG FIAADIKGTG SWTQLYLITD YHENGSLYDY LKSTTLDAKS
MLKLAYSSVS GLCHLHTEIF STQGKPAIAH RDLKSKNILV KKNGTCCIAD LGLAVKFISD
TNEVDIPPNT RVGTKRYMPP EVLDESLNRN HFQSYIMADM YSFGLILWEV ARRCVSGGIV
EEYQLPYHDL VPSDPSYEDM REIVCIKKLR PSFPNRWSSD ECLRQMGKLM TECWAHNPAS
RLTALRVKKT LAKMSESQDI KL*
mutated AA sequence MLLRSAGKLN VGTKKEDGES TAPTPRPKVL RCKCHHHCPE DSVNNICSTD GYCFTMIEED
DSGLPVVTSG CLGLEGSDFQ CRDTPIPHQR RSIECCTERN ECNKDLHPTL PPLKNRDFVD
GPIHHRALLI SVTVCSLLLV LIILFCYFRY KRQETRPRYS IGLEQDETYI PPGESLRDLI
EQSQSSGSGS GLPLLVQRTI AKQIQMVKQI GKGRYGEVWM GKWRGEKVAV KVFFTTEEAS
WFRETEIYQT VLMRHENILG FIAADIKGTG SWTQLYLITD YHENGSLYDY LKSTTLDAKS
MLKLAYSSVS GLCHLHTEIF STQGKPAIAH RDLKSKNILV KKNGTCCIAD LGLAVKFISD
TNEVDIPPNT RVGTKRYMPP EVLDESLNRN HFQSYIMADM YSFGLILWEV ARRCVSGGIV
EEYQLPYHDL VPSDPSYEDM REIVCIKKLR PSFPNRWSSD ECLRQMGKLM TECWAHNPAS
RLTALWVKKT LAKMSESQDI KL*
speed 0.39 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: 0.99999999985585 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM032860)
  • known disease mutation: rs6556 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr4:96075771C>TN/A show variant in all transcripts   IGV
HGNC symbol BMPR1B
Ensembl transcript ID ENST00000394931
Genbank transcript ID N/A
UniProt peptide O00238
alteration type single base exchange
alteration region CDS
DNA changes c.1456C>T
cDNA.1526C>T
g.396653C>T
AA changes R486W Score: 101 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 486
frameshift no
known variant Reference ID: rs121434418
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs6556 (pathogenic for Brachydactyly type A2) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM032860)

known disease mutation at this position, please check HGMD for details (HGMD ID CM032860)
known disease mutation at this position, please check HGMD for details (HGMD ID CM032860)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.3930.874
2.6210.998
(flanking)6.3050.999
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 73
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      486AHNPASRLTALRVKKTLAKMSESQ
mutated  not conserved    486RLTALWVKKTLAKMSES
Ptroglodytes  all identical  ENSPTRG00000016293  515RLTALRVKKTLAKMSES
Mmulatta  all identical  ENSMMUG00000006702  486RLTALRVKKTLAKMSES
Fcatus  all identical  ENSFCAG00000015084  486XXXXXSRLTALRVKKTLAKMSES
Mmusculus  all identical  ENSMUSG00000052430  486RLTALRVKKTLAKMSES
Ggallus  all identical  ENSGALG00000012216  519RLTALRVKKTLAKMSES
Trubripes  all identical  ENSTRUG00000013761  519PASRLTALRVKKTLAKMLES
Drerio  all identical  ENSDARG00000031219  338AHNPASRLTALRVKKTLAKMSES
Dmelanogaster  all identical  FBgn0003716  554HPNPTVRLTALRVKKTLGRL
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000019220  516RLTALRVKKTLAKMSES
protein features
start (aa)end (aa)featuredetails 
149502TOPO_DOMCytoplasmic (Potential).lost
204494DOMAINProtein kinase.lost
484496HELIXlost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1509 / 1509
position (AA) of stopcodon in wt / mu AA sequence 503 / 503
position of stopcodon in wt / mu cDNA 1579 / 1579
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 71 / 71
chromosome 4
strand 1
last intron/exon boundary 1454
theoretical NMD boundary in CDS 1333
length of CDS 1509
coding sequence (CDS) position 1456
cDNA position
(for ins/del: last normal base / first normal base)		 1526
gDNA position
(for ins/del: last normal base / first normal base)		 396653
chromosomal position
(for ins/del: last normal base / first normal base)		 96075771
original gDNA sequence snippet CATCAAGGCTGACAGCCCTGCGGGTTAAGAAAACACTTGCC
altered gDNA sequence snippet CATCAAGGCTGACAGCCCTGTGGGTTAAGAAAACACTTGCC
original cDNA sequence snippet CATCAAGGCTGACAGCCCTGCGGGTTAAGAAAACACTTGCC
altered cDNA sequence snippet CATCAAGGCTGACAGCCCTGTGGGTTAAGAAAACACTTGCC
wildtype AA sequence MLLRSAGKLN VGTKKEDGES TAPTPRPKVL RCKCHHHCPE DSVNNICSTD GYCFTMIEED
DSGLPVVTSG CLGLEGSDFQ CRDTPIPHQR RSIECCTERN ECNKDLHPTL PPLKNRDFVD
GPIHHRALLI SVTVCSLLLV LIILFCYFRY KRQETRPRYS IGLEQDETYI PPGESLRDLI
EQSQSSGSGS GLPLLVQRTI AKQIQMVKQI GKGRYGEVWM GKWRGEKVAV KVFFTTEEAS
WFRETEIYQT VLMRHENILG FIAADIKGTG SWTQLYLITD YHENGSLYDY LKSTTLDAKS
MLKLAYSSVS GLCHLHTEIF STQGKPAIAH RDLKSKNILV KKNGTCCIAD LGLAVKFISD
TNEVDIPPNT RVGTKRYMPP EVLDESLNRN HFQSYIMADM YSFGLILWEV ARRCVSGGIV
EEYQLPYHDL VPSDPSYEDM REIVCIKKLR PSFPNRWSSD ECLRQMGKLM TECWAHNPAS
RLTALRVKKT LAKMSESQDI KL*
mutated AA sequence MLLRSAGKLN VGTKKEDGES TAPTPRPKVL RCKCHHHCPE DSVNNICSTD GYCFTMIEED
DSGLPVVTSG CLGLEGSDFQ CRDTPIPHQR RSIECCTERN ECNKDLHPTL PPLKNRDFVD
GPIHHRALLI SVTVCSLLLV LIILFCYFRY KRQETRPRYS IGLEQDETYI PPGESLRDLI
EQSQSSGSGS GLPLLVQRTI AKQIQMVKQI GKGRYGEVWM GKWRGEKVAV KVFFTTEEAS
WFRETEIYQT VLMRHENILG FIAADIKGTG SWTQLYLITD YHENGSLYDY LKSTTLDAKS
MLKLAYSSVS GLCHLHTEIF STQGKPAIAH RDLKSKNILV KKNGTCCIAD LGLAVKFISD
TNEVDIPPNT RVGTKRYMPP EVLDESLNRN HFQSYIMADM YSFGLILWEV ARRCVSGGIV
EEYQLPYHDL VPSDPSYEDM REIVCIKKLR PSFPNRWSSD ECLRQMGKLM TECWAHNPAS
RLTALWVKKT LAKMSESQDI KL*
speed 0.76 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