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 8 transcript(s)...
Querying Taster for transcript #1: ENST00000393494
Querying Taster for transcript #2: ENST00000408937
Querying Taster for transcript #3: ENST00000350908
Querying Taster for transcript #4: ENST00000393498
Querying Taster for transcript #5: ENST00000393489
Querying Taster for transcript #6: ENST00000403559
Querying Taster for transcript #7: ENST00000393491
Querying Taster for transcript #8: ENST00000393500
MT speed 0 s - this script 7.154398 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
FOXP2disease_causing_automatic0.999999999999188simple_aae0R368Hsingle base exchangers121908377show file
FOXP2disease_causing_automatic0.99999999999956simple_aae0R461Hsingle base exchangers121908377show file
FOXP2disease_causing_automatic0.999999999999994simple_aae0R570Hsingle base exchangers121908377show file
FOXP2disease_causing_automatic0.999999999999995simple_aae0R553Hsingle base exchangers121908377show file
FOXP2disease_causing_automatic0.999999999999995simple_aae0R578Hsingle base exchangers121908377show file
FOXP2disease_causing_automatic0.999999999999995simple_aae0R553Hsingle base exchangers121908377show file
FOXP2disease_causing_automatic0.999999999999995simple_aae0R530Hsingle base exchangers121908377show file
FOXP2disease_causing_automatic1without_aae0single base exchangers121908377show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999999999188 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM012948)
  • known disease mutation: rs5067 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr7:114302130G>AN/A show variant in all transcripts   IGV
HGNC symbol FOXP2
Ensembl transcript ID ENST00000393491
Genbank transcript ID N/A
UniProt peptide O15409
alteration type single base exchange
alteration region CDS
DNA changes c.1103G>A
cDNA.1103G>A
g.575749G>A
AA changes R368H Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 368
frameshift no
known variant Reference ID: rs121908377
Allele 'A' was neither found in ExAC nor 1000G.
known disease mutation: rs5067 (pathogenic for Speech-language disorder 1) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM012948)

known disease mutation at this position, please check HGMD for details (HGMD ID CM012948)
known disease mutation at this position, please check HGMD for details (HGMD ID CM012948)
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)6.1581
6.1581
(flanking)0.8481
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 11
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      368RRNAATWKNAVRHNLSLHKCFVRV
mutated  not conserved    368ATWKNAVHHNLSLHKCFVR
Ptroglodytes  all identical  ENSPTRG00000019608  554RRNAATWKNAVRHNLSLHKCFVR
Mmulatta  all identical  ENSMMUG00000008005  577RRNAATWKNAVRHNLSLHKCFVR
Fcatus  all identical  ENSFCAG00000006921  461RRNAATWKNAVRHNLSLHKCFVR
Mmusculus  all identical  ENSMUSG00000029563  577RRNAATWKNAVRHNLSLHKCFVR
Ggallus  all identical  ENSGALG00000009424  467RRNAATWKNAVRHNLSLHKCFVR
Trubripes  all identical  ENSTRUG00000016830  577RRNAATWKNAVRHNLSLHKCFVR
Drerio  all identical  ENSDARG00000005453  519RRNAATWKNAVRHNLSLHKCFVR
Dmelanogaster  all identical  FBgn0262477  377RRNAATWKNAIRTNLSLHKCFVR
Celegans  all identical  F26D12.1  613RRNAATWKNAVRHNLSLH
Xtropicalis  all identical  ENSXETG00000011560  527RRNAATWKNAVRHNLSLHKCFVR
protein features
start (aa)end (aa)featuredetails 
346371ZN_FINGC2H2-type.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1593 / 1593
position (AA) of stopcodon in wt / mu AA sequence 531 / 531
position of stopcodon in wt / mu cDNA 1593 / 1593
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 7
strand 1
last intron/exon boundary 1449
theoretical NMD boundary in CDS 1398
length of CDS 1593
coding sequence (CDS) position 1103
cDNA position
(for ins/del: last normal base / first normal base)		 1103
gDNA position
(for ins/del: last normal base / first normal base)		 575749
chromosomal position
(for ins/del: last normal base / first normal base)		 114302130
original gDNA sequence snippet TCTGCTTTAGAATGCAGTACGTCATAATCTTAGCCTGCACA
altered gDNA sequence snippet TCTGCTTTAGAATGCAGTACATCATAATCTTAGCCTGCACA
original cDNA sequence snippet AACTTGGAAGAATGCAGTACGTCATAATCTTAGCCTGCACA
altered cDNA sequence snippet AACTTGGAAGAATGCAGTACATCATAATCTTAGCCTGCACA
wildtype AA sequence MMTPQVITPQ QMQQILQQQV LSPQQLQALL QQQQAVMLQQ QQLQEFYKKQ QEQLHLQLLQ
QQQQQQQQQQ QQQQQQQQQQ QQQQQQQQQQ QQQQQQQQQH PGKQAKEQQQ QQQQQQQLAA
QQLVFQQQLL QMQQLQQQQH LLSLQRQGLI SIPPGQAALP VQSLPQAGLS PAEIQQLWKE
VTGVHSMEDN GIKHGGLDLT TNNSSSTTSS NTSKASPPIT HHSIVNGQSS VLSARRDSSS
HEETGASHTL YGHGVCKWPG CESICEDFGQ FLKHLNNEHA LDDRSTAQCR VQMQVVQQLE
IQLSKERERL QAMMTHLHMR PSEPKPSPKP AIMESSDRQL TLNEIYSWFT RTFAYFRRNA
ATWKNAVRHN LSLHKCFVRV ENVKGAVWTV DEVEYQKRRS QKITGSPTLV KNIPTSLGYG
AALNASLQAA LAESSLPLLS NPGLINNASS GLLQAVHEDL NGSLDHIDSN GNSSPGCSPQ
PHIHSIHVKE EPVIAEDEDC PMSLVTTANH SPELEDDREI EEEPLSEDLE *
mutated AA sequence MMTPQVITPQ QMQQILQQQV LSPQQLQALL QQQQAVMLQQ QQLQEFYKKQ QEQLHLQLLQ
QQQQQQQQQQ QQQQQQQQQQ QQQQQQQQQQ QQQQQQQQQH PGKQAKEQQQ QQQQQQQLAA
QQLVFQQQLL QMQQLQQQQH LLSLQRQGLI SIPPGQAALP VQSLPQAGLS PAEIQQLWKE
VTGVHSMEDN GIKHGGLDLT TNNSSSTTSS NTSKASPPIT HHSIVNGQSS VLSARRDSSS
HEETGASHTL YGHGVCKWPG CESICEDFGQ FLKHLNNEHA LDDRSTAQCR VQMQVVQQLE
IQLSKERERL QAMMTHLHMR PSEPKPSPKP AIMESSDRQL TLNEIYSWFT RTFAYFRRNA
ATWKNAVHHN LSLHKCFVRV ENVKGAVWTV DEVEYQKRRS QKITGSPTLV KNIPTSLGYG
AALNASLQAA LAESSLPLLS NPGLINNASS GLLQAVHEDL NGSLDHIDSN GNSSPGCSPQ
PHIHSIHVKE EPVIAEDEDC PMSLVTTANH SPELEDDREI EEEPLSEDLE *
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: simple_aae, prob: 0.99999999999956 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM012948)
  • known disease mutation: rs5067 (pathogenic)
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr7:114302130G>AN/A show variant in all transcripts   IGV
HGNC symbol FOXP2
Ensembl transcript ID ENST00000393489
Genbank transcript ID N/A
UniProt peptide O15409
alteration type single base exchange
alteration region CDS
DNA changes c.1382G>A
cDNA.1764G>A
g.575749G>A
AA changes R461H Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 461
frameshift no
known variant Reference ID: rs121908377
Allele 'A' was neither found in ExAC nor 1000G.
known disease mutation: rs5067 (pathogenic for Speech-language disorder 1) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM012948)

known disease mutation at this position, please check HGMD for details (HGMD ID CM012948)
known disease mutation at this position, please check HGMD for details (HGMD ID CM012948)
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)6.1581
6.1581
(flanking)0.8481
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 11
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      461RRNAATWKNAVRHNLSLHKCFVRV
mutated  not conserved    461RRNAATWKNAVHHNLSLHKCFVR
Ptroglodytes  all identical  ENSPTRG00000019608  554RRNAATWKNAVRHNLSLHKCFVR
Mmulatta  all identical  ENSMMUG00000008005  577RRNAATWKNAVRHNLSLHKCFVR
Fcatus  all identical  ENSFCAG00000006921  461RRNAATWKNAVRHNLSLHKCFVR
Mmusculus  all identical  ENSMUSG00000029563  577RRNAATWKNAVRHNLSLHKCFVR
Ggallus  all identical  ENSGALG00000009424  467RRNAATWKNAVRHNLSLHKCFVR
Trubripes  all identical  ENSTRUG00000016830  577AVRHNLSLHKCFVR
Drerio  all identical  ENSDARG00000005453  519RRNAATWKNAVRHNLSLHKCFVR
Dmelanogaster  all identical  FBgn0262477  377RRNAATWKNAIRTNLSLH
Celegans  all identical  F26D12.1  612RRNAATWKNAVRHNLSLHKCF
Xtropicalis  all identical  ENSXETG00000011560  527RRNAATWKNAVRHNLSLHKCFVR
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1872 / 1872
position (AA) of stopcodon in wt / mu AA sequence 624 / 624
position of stopcodon in wt / mu cDNA 2254 / 2254
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 383 / 383
chromosome 7
strand 1
last intron/exon boundary 2110
theoretical NMD boundary in CDS 1677
length of CDS 1872
coding sequence (CDS) position 1382
cDNA position
(for ins/del: last normal base / first normal base)		 1764
gDNA position
(for ins/del: last normal base / first normal base)		 575749
chromosomal position
(for ins/del: last normal base / first normal base)		 114302130
original gDNA sequence snippet TCTGCTTTAGAATGCAGTACGTCATAATCTTAGCCTGCACA
altered gDNA sequence snippet TCTGCTTTAGAATGCAGTACATCATAATCTTAGCCTGCACA
original cDNA sequence snippet AACTTGGAAGAATGCAGTACGTCATAATCTTAGCCTGCACA
altered cDNA sequence snippet AACTTGGAAGAATGCAGTACATCATAATCTTAGCCTGCACA
wildtype AA sequence MMTPQVITPQ QMQQILQQQV LSPQQLQALL QQQQAVMLQQ QQLQEFYKKQ QEQLHLQLLQ
QQQQQQQQQQ QQQQQQQQQQ QQQQQQQQQQ QQQQQQQQQH PGKQAKEQQQ QQQQQQQLAA
QQLVFQQQLL QMQQLQQQQH LLSLQRQGLI SIPPGQAALP VQSLPQAGLS PAEIQQLWKE
VTGVHSMEDN GIKHGGLDLT TNNSSSTTSS NTSKASPPIT HHSIVNGQSS VLSARRDSSS
HEETGASHTL YGHGVCKWPG CESICEDFGQ FLKHLNNEHA LDDRSTAQCR VQMQVVQQLE
IQLSKERERL QAMMTHLHMR PSEPKPSPKP LNLVSSVTMS KNMLETSPQS LPQTPTTPTA
PVTPITQGPS VITPASVPNV GAIRRRHSDK YNIPMSSEIA PNYEFYKNAD VRPPFTYATL
IRQAIMESSD RQLTLNEIYS WFTRTFAYFR RNAATWKNAV RHNLSLHKCF VRVENVKGAV
WTVDEVEYQK RRSQKITGSP TLVKNIPTSL GYGAALNASL QAALAESSLP LLSNPGLINN
ASSGLLQAVH EDLNGSLDHI DSNGNSSPGC SPQPHIHSIH VKEEPVIAED EDCPMSLVTT
ANHSPELEDD REIEEEPLSE DLE*
mutated AA sequence MMTPQVITPQ QMQQILQQQV LSPQQLQALL QQQQAVMLQQ QQLQEFYKKQ QEQLHLQLLQ
QQQQQQQQQQ QQQQQQQQQQ QQQQQQQQQQ QQQQQQQQQH PGKQAKEQQQ QQQQQQQLAA
QQLVFQQQLL QMQQLQQQQH LLSLQRQGLI SIPPGQAALP VQSLPQAGLS PAEIQQLWKE
VTGVHSMEDN GIKHGGLDLT TNNSSSTTSS NTSKASPPIT HHSIVNGQSS VLSARRDSSS
HEETGASHTL YGHGVCKWPG CESICEDFGQ FLKHLNNEHA LDDRSTAQCR VQMQVVQQLE
IQLSKERERL QAMMTHLHMR PSEPKPSPKP LNLVSSVTMS KNMLETSPQS LPQTPTTPTA
PVTPITQGPS VITPASVPNV GAIRRRHSDK YNIPMSSEIA PNYEFYKNAD VRPPFTYATL
IRQAIMESSD RQLTLNEIYS WFTRTFAYFR RNAATWKNAV HHNLSLHKCF VRVENVKGAV
WTVDEVEYQK RRSQKITGSP TLVKNIPTSL GYGAALNASL QAALAESSLP LLSNPGLINN
ASSGLLQAVH EDLNGSLDHI DSNGNSSPGC SPQPHIHSIH VKEEPVIAED EDCPMSLVTT
ANHSPELEDD REIEEEPLSE DLE*
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: 0.999999999999994 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM012948)
  • known disease mutation: rs5067 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr7:114302130G>AN/A show variant in all transcripts   IGV
HGNC symbol FOXP2
Ensembl transcript ID ENST00000403559
Genbank transcript ID NM_148900
UniProt peptide O15409
alteration type single base exchange
alteration region CDS
DNA changes c.1709G>A
cDNA.2083G>A
g.575749G>A
AA changes R570H Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 570
frameshift no
known variant Reference ID: rs121908377
Allele 'A' was neither found in ExAC nor 1000G.
known disease mutation: rs5067 (pathogenic for Speech-language disorder 1) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM012948)

known disease mutation at this position, please check HGMD for details (HGMD ID CM012948)
known disease mutation at this position, please check HGMD for details (HGMD ID CM012948)
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)6.1581
6.1581
(flanking)0.8481
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 11
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      570RRNAATWKNAVRHNLSLHKCFVRV
mutated  not conserved    570RRNAATWKNAVHHNLSLHKCFVR
Ptroglodytes  all identical  ENSPTRG00000019608  554RRNAATWKNAVRHNLSLHKCFVR
Mmulatta  all identical  ENSMMUG00000008005  577RRNAATWKNAVRHNLSL
Fcatus  all identical  ENSFCAG00000006921  461NAVRHNLSLHKCFVR
Mmusculus  all identical  ENSMUSG00000029563  577RRNAATWKNAVRHNLSL
Ggallus  all identical  ENSGALG00000009424  467WKNAVRHNLSLHKCFVR
Trubripes  all identical  ENSTRUG00000016830  577RRNAATWKNAVRHNLSLH
Drerio  all identical  ENSDARG00000005453  519RRNAATWKNAVRHNLSLHKCFVR
Dmelanogaster  all identical  FBgn0262477  377RRNAATWKNAIRTNLSLH
Celegans  all identical  F26D12.1  612RRNAATWKNAVRHNLSLHKCF
Xtropicalis  all identical  ENSXETG00000011560  527RRNAATWKNAVRHNLSLHKCFVR
protein features
start (aa)end (aa)featuredetails 
504594DNA_BINDFork-head.lost
568572STRANDlost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2199 / 2199
position (AA) of stopcodon in wt / mu AA sequence 733 / 733
position of stopcodon in wt / mu cDNA 2573 / 2573
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 375 / 375
chromosome 7
strand 1
last intron/exon boundary 2429
theoretical NMD boundary in CDS 2004
length of CDS 2199
coding sequence (CDS) position 1709
cDNA position
(for ins/del: last normal base / first normal base)		 2083
gDNA position
(for ins/del: last normal base / first normal base)		 575749
chromosomal position
(for ins/del: last normal base / first normal base)		 114302130
original gDNA sequence snippet TCTGCTTTAGAATGCAGTACGTCATAATCTTAGCCTGCACA
altered gDNA sequence snippet TCTGCTTTAGAATGCAGTACATCATAATCTTAGCCTGCACA
original cDNA sequence snippet AACTTGGAAGAATGCAGTACGTCATAATCTTAGCCTGCACA
altered cDNA sequence snippet AACTTGGAAGAATGCAGTACATCATAATCTTAGCCTGCACA
wildtype AA sequence MMQESATETI SNSSMNQNGM STLSSQLDAG SRDGRSSGDT SSEVSTVELL HLQQQQALQA
ARQLLLQQQT SGLKSPKSSD KQRPLQVPVS VAMMTPQVIT PQQMQQILQQ QVLSPQQLQA
LLQQQQAVML QQDFLDSGLE NFRAALEKNQ QLQEFYKKQQ EQLHLQLLQQ QQQQQQQQQQ
QQQQQQQQQQ QQQQQQQQQQ QQQQQQQQHP GKQAKEQQQQ QQQQQQLAAQ QLVFQQQLLQ
MQQLQQQQHL LSLQRQGLIS IPPGQAALPV QSLPQAGLSP AEIQQLWKEV TGVHSMEDNG
IKHGGLDLTT NNSSSTTSSN TSKASPPITH HSIVNGQSSV LSARRDSSSH EETGASHTLY
GHGVCKWPGC ESICEDFGQF LKHLNNEHAL DDRSTAQCRV QMQVVQQLEI QLSKERERLQ
AMMTHLHMRP SEPKPSPKPL NLVSSVTMSK NMLETSPQSL PQTPTTPTAP VTPITQGPSV
ITPASVPNVG AIRRRHSDKY NIPMSSEIAP NYEFYKNADV RPPFTYATLI RQAIMESSDR
QLTLNEIYSW FTRTFAYFRR NAATWKNAVR HNLSLHKCFV RVENVKGAVW TVDEVEYQKR
RSQKITGSPT LVKNIPTSLG YGAALNASLQ AALAESSLPL LSNPGLINNA SSGLLQAVHE
DLNGSLDHID SNGNSSPGCS PQPHIHSIHV KEEPVIAEDE DCPMSLVTTA NHSPELEDDR
EIEEEPLSED LE*
mutated AA sequence MMQESATETI SNSSMNQNGM STLSSQLDAG SRDGRSSGDT SSEVSTVELL HLQQQQALQA
ARQLLLQQQT SGLKSPKSSD KQRPLQVPVS VAMMTPQVIT PQQMQQILQQ QVLSPQQLQA
LLQQQQAVML QQDFLDSGLE NFRAALEKNQ QLQEFYKKQQ EQLHLQLLQQ QQQQQQQQQQ
QQQQQQQQQQ QQQQQQQQQQ QQQQQQQQHP GKQAKEQQQQ QQQQQQLAAQ QLVFQQQLLQ
MQQLQQQQHL LSLQRQGLIS IPPGQAALPV QSLPQAGLSP AEIQQLWKEV TGVHSMEDNG
IKHGGLDLTT NNSSSTTSSN TSKASPPITH HSIVNGQSSV LSARRDSSSH EETGASHTLY
GHGVCKWPGC ESICEDFGQF LKHLNNEHAL DDRSTAQCRV QMQVVQQLEI QLSKERERLQ
AMMTHLHMRP SEPKPSPKPL NLVSSVTMSK NMLETSPQSL PQTPTTPTAP VTPITQGPSV
ITPASVPNVG AIRRRHSDKY NIPMSSEIAP NYEFYKNADV RPPFTYATLI RQAIMESSDR
QLTLNEIYSW FTRTFAYFRR NAATWKNAVH HNLSLHKCFV RVENVKGAVW TVDEVEYQKR
RSQKITGSPT LVKNIPTSLG YGAALNASLQ AALAESSLPL LSNPGLINNA SSGLLQAVHE
DLNGSLDHID SNGNSSPGCS PQPHIHSIHV KEEPVIAEDE DCPMSLVTTA NHSPELEDDR
EIEEEPLSED LE*
speed 1.11 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999999999995 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM012948)
  • known disease mutation: rs5067 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr7:114302130G>AN/A show variant in all transcripts   IGV
HGNC symbol FOXP2
Ensembl transcript ID ENST00000393494
Genbank transcript ID N/A
UniProt peptide O15409
alteration type single base exchange
alteration region CDS
DNA changes c.1658G>A
cDNA.1937G>A
g.575749G>A
AA changes R553H Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 553
frameshift no
known variant Reference ID: rs121908377
Allele 'A' was neither found in ExAC nor 1000G.
known disease mutation: rs5067 (pathogenic for Speech-language disorder 1) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM012948)

known disease mutation at this position, please check HGMD for details (HGMD ID CM012948)
known disease mutation at this position, please check HGMD for details (HGMD ID CM012948)
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)6.1581
6.1581
(flanking)0.8481
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 11
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      553RRNAATWKNAVRHNLSLHKCFVRV
mutated  not conserved    553RRNAATWKNAVHHNLSLHKCFVR
Ptroglodytes  all identical  ENSPTRG00000019608  554RRNAATWKNAVRHNLSLHKCFVR
Mmulatta  all identical  ENSMMUG00000008005  577RRNAATWKNAVRHNLSLHKCFVR
Fcatus  all identical  ENSFCAG00000006921  461RRNAATWKNAVRHNLSLHKCFVR
Mmusculus  all identical  ENSMUSG00000029563  577RRNAATWKNAVRHNLSLHKCFVR
Ggallus  all identical  ENSGALG00000009424  467RRNAATWKNAVRHNLSLHKCFVR
Trubripes  all identical  ENSTRUG00000016830  577RRNAATWKNAVRHNLSLHKCFVR
Drerio  all identical  ENSDARG00000005453  519RRNAATWKNAVRHNLSLHKCFVR
Dmelanogaster  all identical  FBgn0262477  377RRNAATWKNAIRTNLSLH
Celegans  all identical  F26D12.1  612RRNAATWKNAVRHNLSLHKCF
Xtropicalis  all identical  ENSXETG00000011560  527RRNAATWKNAVRHNLSL
protein features
start (aa)end (aa)featuredetails 
504594DNA_BINDFork-head.lost
545558HELIXlost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2148 / 2148
position (AA) of stopcodon in wt / mu AA sequence 716 / 716
position of stopcodon in wt / mu cDNA 2427 / 2427
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 280 / 280
chromosome 7
strand 1
last intron/exon boundary 2283
theoretical NMD boundary in CDS 1953
length of CDS 2148
coding sequence (CDS) position 1658
cDNA position
(for ins/del: last normal base / first normal base)		 1937
gDNA position
(for ins/del: last normal base / first normal base)		 575749
chromosomal position
(for ins/del: last normal base / first normal base)		 114302130
original gDNA sequence snippet TCTGCTTTAGAATGCAGTACGTCATAATCTTAGCCTGCACA
altered gDNA sequence snippet TCTGCTTTAGAATGCAGTACATCATAATCTTAGCCTGCACA
original cDNA sequence snippet AACTTGGAAGAATGCAGTACGTCATAATCTTAGCCTGCACA
altered cDNA sequence snippet AACTTGGAAGAATGCAGTACATCATAATCTTAGCCTGCACA
wildtype AA sequence MMQESATETI SNSSMNQNGM STLSSQLDAG SRDGRSSGDT SSEVSTVELL HLQQQQALQA
ARQLLLQQQT SGLKSPKSSD KQRPLQVPVS VAMMTPQVIT PQQMQQILQQ QVLSPQQLQA
LLQQQQAVML QQQQLQEFYK KQQEQLHLQL LQQQQQQQQQ QQQQQQQQQQ QQQQQQQQQQ
QQQQQQQQQQ QHPGKQAKEQ QQQQQQQQQL AAQQLVFQQQ LLQMQQLQQQ QHLLSLQRQG
LISIPPGQAA LPVQSLPQAG LSPAEIQQLW KEVTGVHSME DNGIKHGGLD LTTNNSSSTT
SSNTSKASPP ITHHSIVNGQ SSVLSARRDS SSHEETGASH TLYGHGVCKW PGCESICEDF
GQFLKHLNNE HALDDRSTAQ CRVQMQVVQQ LEIQLSKERE RLQAMMTHLH MRPSEPKPSP
KPLNLVSSVT MSKNMLETSP QSLPQTPTTP TAPVTPITQG PSVITPASVP NVGAIRRRHS
DKYNIPMSSE IAPNYEFYKN ADVRPPFTYA TLIRQAIMES SDRQLTLNEI YSWFTRTFAY
FRRNAATWKN AVRHNLSLHK CFVRVENVKG AVWTVDEVEY QKRRSQKITG SPTLVKNIPT
SLGYGAALNA SLQAALAESS LPLLSNPGLI NNASSGLLQA VHEDLNGSLD HIDSNGNSSP
GCSPQPHIHS IHVKEEPVIA EDEDCPMSLV TTANHSPELE DDREIEEEPL SEDLE*
mutated AA sequence MMQESATETI SNSSMNQNGM STLSSQLDAG SRDGRSSGDT SSEVSTVELL HLQQQQALQA
ARQLLLQQQT SGLKSPKSSD KQRPLQVPVS VAMMTPQVIT PQQMQQILQQ QVLSPQQLQA
LLQQQQAVML QQQQLQEFYK KQQEQLHLQL LQQQQQQQQQ QQQQQQQQQQ QQQQQQQQQQ
QQQQQQQQQQ QHPGKQAKEQ QQQQQQQQQL AAQQLVFQQQ LLQMQQLQQQ QHLLSLQRQG
LISIPPGQAA LPVQSLPQAG LSPAEIQQLW KEVTGVHSME DNGIKHGGLD LTTNNSSSTT
SSNTSKASPP ITHHSIVNGQ SSVLSARRDS SSHEETGASH TLYGHGVCKW PGCESICEDF
GQFLKHLNNE HALDDRSTAQ CRVQMQVVQQ LEIQLSKERE RLQAMMTHLH MRPSEPKPSP
KPLNLVSSVT MSKNMLETSP QSLPQTPTTP TAPVTPITQG PSVITPASVP NVGAIRRRHS
DKYNIPMSSE IAPNYEFYKN ADVRPPFTYA TLIRQAIMES SDRQLTLNEI YSWFTRTFAY
FRRNAATWKN AVHHNLSLHK CFVRVENVKG AVWTVDEVEY QKRRSQKITG SPTLVKNIPT
SLGYGAALNA SLQAALAESS LPLLSNPGLI NNASSGLLQA VHEDLNGSLD HIDSNGNSSP
GCSPQPHIHS IHVKEEPVIA EDEDCPMSLV TTANHSPELE DDREIEEEPL SEDLE*
speed 0.77 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999999999995 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM012948)
  • known disease mutation: rs5067 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr7:114302130G>AN/A show variant in all transcripts   IGV
HGNC symbol FOXP2
Ensembl transcript ID ENST00000408937
Genbank transcript ID NM_001172766
UniProt peptide O15409
alteration type single base exchange
alteration region CDS
DNA changes c.1733G>A
cDNA.2107G>A
g.575749G>A
AA changes R578H Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 578
frameshift no
known variant Reference ID: rs121908377
Allele 'A' was neither found in ExAC nor 1000G.
known disease mutation: rs5067 (pathogenic for Speech-language disorder 1) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM012948)

known disease mutation at this position, please check HGMD for details (HGMD ID CM012948)
known disease mutation at this position, please check HGMD for details (HGMD ID CM012948)
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)6.1581
6.1581
(flanking)0.8481
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 11
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      578RRNAATWKNAVRHNLSLHKCFVRV
mutated  not conserved    578RRNAATWKNAVHHNLSLHKCFVR
Ptroglodytes  all identical  ENSPTRG00000019608  554RRNAATWKNAVRHNLSLHKCFVR
Mmulatta  all identical  ENSMMUG00000008005  577RRNAATWKNAVRHNLSLHKCFVR
Fcatus  all identical  ENSFCAG00000006921  461RRNAATWKNAVRHNLSLHKCFVR
Mmusculus  all identical  ENSMUSG00000029563  577RRNAATWKNAVRHNLSLHKCFVR
Ggallus  all identical  ENSGALG00000009424  467RRNAATWKNAVRHNLSLHKCFVR
Trubripes  all identical  ENSTRUG00000016830  577VRHNLSLHKCFVR
Drerio  all identical  ENSDARG00000005453  519RRNAATWKNAVRHNLSLHKCFVR
Dmelanogaster  all identical  FBgn0262477  377RRNAATWKNAIRTNLSLH
Celegans  all identical  F26D12.1  612RRNAATWKNAVRHNLSLHKCF
Xtropicalis  all identical  ENSXETG00000011560  527RRNAATWKNAVRHNLSLHKCFVR
protein features
start (aa)end (aa)featuredetails 
504594DNA_BINDFork-head.lost
577583HELIXlost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2223 / 2223
position (AA) of stopcodon in wt / mu AA sequence 741 / 741
position of stopcodon in wt / mu cDNA 2597 / 2597
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 375 / 375
chromosome 7
strand 1
last intron/exon boundary 2453
theoretical NMD boundary in CDS 2028
length of CDS 2223
coding sequence (CDS) position 1733
cDNA position
(for ins/del: last normal base / first normal base)		 2107
gDNA position
(for ins/del: last normal base / first normal base)		 575749
chromosomal position
(for ins/del: last normal base / first normal base)		 114302130
original gDNA sequence snippet TCTGCTTTAGAATGCAGTACGTCATAATCTTAGCCTGCACA
altered gDNA sequence snippet TCTGCTTTAGAATGCAGTACATCATAATCTTAGCCTGCACA
original cDNA sequence snippet AACTTGGAAGAATGCAGTACGTCATAATCTTAGCCTGCACA
altered cDNA sequence snippet AACTTGGAAGAATGCAGTACATCATAATCTTAGCCTGCACA
wildtype AA sequence MMQESATETI SNSSMNQNGM STLSSQLDAG SRDGRSSGDT SSEVSTVELL HLQQQQALQA
ARQLLLQQQT SGLKSPKSSD KQRPLQELLP ETKLCICGHS SGDGHPHNTF AVPVSVAMMT
PQVITPQQMQ QILQQQVLSP QQLQALLQQQ QAVMLQQQQL QEFYKKQQEQ LHLQLLQQQQ
QQQQQQQQQQ QQQQQQQQQQ QQQQQQQQQQ QQQQQQHPGK QAKEQQQQQQ QQQQLAAQQL
VFQQQLLQMQ QLQQQQHLLS LQRQGLISIP PGQAALPVQS LPQAGLSPAE IQQLWKEVTG
VHSMEDNGIK HGGLDLTTNN SSSTTSSNTS KASPPITHHS IVNGQSSVLS ARRDSSSHEE
TGASHTLYGH GVCKWPGCES ICEDFGQFLK HLNNEHALDD RSTAQCRVQM QVVQQLEIQL
SKERERLQAM MTHLHMRPSE PKPSPKPLNL VSSVTMSKNM LETSPQSLPQ TPTTPTAPVT
PITQGPSVIT PASVPNVGAI RRRHSDKYNI PMSSEIAPNY EFYKNADVRP PFTYATLIRQ
AIMESSDRQL TLNEIYSWFT RTFAYFRRNA ATWKNAVRHN LSLHKCFVRV ENVKGAVWTV
DEVEYQKRRS QKITGSPTLV KNIPTSLGYG AALNASLQAA LAESSLPLLS NPGLINNASS
GLLQAVHEDL NGSLDHIDSN GNSSPGCSPQ PHIHSIHVKE EPVIAEDEDC PMSLVTTANH
SPELEDDREI EEEPLSEDLE *
mutated AA sequence MMQESATETI SNSSMNQNGM STLSSQLDAG SRDGRSSGDT SSEVSTVELL HLQQQQALQA
ARQLLLQQQT SGLKSPKSSD KQRPLQELLP ETKLCICGHS SGDGHPHNTF AVPVSVAMMT
PQVITPQQMQ QILQQQVLSP QQLQALLQQQ QAVMLQQQQL QEFYKKQQEQ LHLQLLQQQQ
QQQQQQQQQQ QQQQQQQQQQ QQQQQQQQQQ QQQQQQHPGK QAKEQQQQQQ QQQQLAAQQL
VFQQQLLQMQ QLQQQQHLLS LQRQGLISIP PGQAALPVQS LPQAGLSPAE IQQLWKEVTG
VHSMEDNGIK HGGLDLTTNN SSSTTSSNTS KASPPITHHS IVNGQSSVLS ARRDSSSHEE
TGASHTLYGH GVCKWPGCES ICEDFGQFLK HLNNEHALDD RSTAQCRVQM QVVQQLEIQL
SKERERLQAM MTHLHMRPSE PKPSPKPLNL VSSVTMSKNM LETSPQSLPQ TPTTPTAPVT
PITQGPSVIT PASVPNVGAI RRRHSDKYNI PMSSEIAPNY EFYKNADVRP PFTYATLIRQ
AIMESSDRQL TLNEIYSWFT RTFAYFRRNA ATWKNAVHHN LSLHKCFVRV ENVKGAVWTV
DEVEYQKRRS QKITGSPTLV KNIPTSLGYG AALNASLQAA LAESSLPLLS NPGLINNASS
GLLQAVHEDL NGSLDHIDSN GNSSPGCSPQ PHIHSIHVKE EPVIAEDEDC PMSLVTTANH
SPELEDDREI EEEPLSEDLE *
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
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999999999995 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM012948)
  • known disease mutation: rs5067 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr7:114302130G>AN/A show variant in all transcripts   IGV
HGNC symbol FOXP2
Ensembl transcript ID ENST00000350908
Genbank transcript ID N/A
UniProt peptide O15409
alteration type single base exchange
alteration region CDS
DNA changes c.1658G>A
cDNA.1974G>A
g.575749G>A
AA changes R553H Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 553
frameshift no
known variant Reference ID: rs121908377
Allele 'A' was neither found in ExAC nor 1000G.
known disease mutation: rs5067 (pathogenic for Speech-language disorder 1) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM012948)

known disease mutation at this position, please check HGMD for details (HGMD ID CM012948)
known disease mutation at this position, please check HGMD for details (HGMD ID CM012948)
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)6.1581
6.1581
(flanking)0.8481
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 11
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      553RRNAATWKNAVRHNLSLHKCFVRV
mutated  not conserved    553RRNAATWKNAVHHNLSLHKCFVR
Ptroglodytes  all identical  ENSPTRG00000019608  554RRNAATWKNAVRHNLSLHKCFVR
Mmulatta  all identical  ENSMMUG00000008005  577RRNAATWKNAVRHNLSLHKCFVR
Fcatus  all identical  ENSFCAG00000006921  461RRNAATWKNAVRHNLSLHKCFVR
Mmusculus  all identical  ENSMUSG00000029563  577RRNAATWKNAVRHNLSLHKCFVR
Ggallus  all identical  ENSGALG00000009424  467RRNAATWKNAVRHNLSLHKCFVR
Trubripes  all identical  ENSTRUG00000016830  577RRNAATWKNAVRHNLSLHKCFVR
Drerio  all identical  ENSDARG00000005453  519RRNAATWKNAVRHNLSLHKCFVR
Dmelanogaster  all identical  FBgn0262477  377RRNAATWKNAIRTNLSLH
Celegans  all identical  F26D12.1  612RRNAATWKNAVRHNLSLHKCF
Xtropicalis  all identical  ENSXETG00000011560  527RRNAATWKNAVRHNLSL
protein features
start (aa)end (aa)featuredetails 
504594DNA_BINDFork-head.lost
545558HELIXlost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2148 / 2148
position (AA) of stopcodon in wt / mu AA sequence 716 / 716
position of stopcodon in wt / mu cDNA 2464 / 2464
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 317 / 317
chromosome 7
strand 1
last intron/exon boundary 2320
theoretical NMD boundary in CDS 1953
length of CDS 2148
coding sequence (CDS) position 1658
cDNA position
(for ins/del: last normal base / first normal base)		 1974
gDNA position
(for ins/del: last normal base / first normal base)		 575749
chromosomal position
(for ins/del: last normal base / first normal base)		 114302130
original gDNA sequence snippet TCTGCTTTAGAATGCAGTACGTCATAATCTTAGCCTGCACA
altered gDNA sequence snippet TCTGCTTTAGAATGCAGTACATCATAATCTTAGCCTGCACA
original cDNA sequence snippet AACTTGGAAGAATGCAGTACGTCATAATCTTAGCCTGCACA
altered cDNA sequence snippet AACTTGGAAGAATGCAGTACATCATAATCTTAGCCTGCACA
wildtype AA sequence MMQESATETI SNSSMNQNGM STLSSQLDAG SRDGRSSGDT SSEVSTVELL HLQQQQALQA
ARQLLLQQQT SGLKSPKSSD KQRPLQVPVS VAMMTPQVIT PQQMQQILQQ QVLSPQQLQA
LLQQQQAVML QQQQLQEFYK KQQEQLHLQL LQQQQQQQQQ QQQQQQQQQQ QQQQQQQQQQ
QQQQQQQQQQ QHPGKQAKEQ QQQQQQQQQL AAQQLVFQQQ LLQMQQLQQQ QHLLSLQRQG
LISIPPGQAA LPVQSLPQAG LSPAEIQQLW KEVTGVHSME DNGIKHGGLD LTTNNSSSTT
SSNTSKASPP ITHHSIVNGQ SSVLSARRDS SSHEETGASH TLYGHGVCKW PGCESICEDF
GQFLKHLNNE HALDDRSTAQ CRVQMQVVQQ LEIQLSKERE RLQAMMTHLH MRPSEPKPSP
KPLNLVSSVT MSKNMLETSP QSLPQTPTTP TAPVTPITQG PSVITPASVP NVGAIRRRHS
DKYNIPMSSE IAPNYEFYKN ADVRPPFTYA TLIRQAIMES SDRQLTLNEI YSWFTRTFAY
FRRNAATWKN AVRHNLSLHK CFVRVENVKG AVWTVDEVEY QKRRSQKITG SPTLVKNIPT
SLGYGAALNA SLQAALAESS LPLLSNPGLI NNASSGLLQA VHEDLNGSLD HIDSNGNSSP
GCSPQPHIHS IHVKEEPVIA EDEDCPMSLV TTANHSPELE DDREIEEEPL SEDLE*
mutated AA sequence MMQESATETI SNSSMNQNGM STLSSQLDAG SRDGRSSGDT SSEVSTVELL HLQQQQALQA
ARQLLLQQQT SGLKSPKSSD KQRPLQVPVS VAMMTPQVIT PQQMQQILQQ QVLSPQQLQA
LLQQQQAVML QQQQLQEFYK KQQEQLHLQL LQQQQQQQQQ QQQQQQQQQQ QQQQQQQQQQ
QQQQQQQQQQ QHPGKQAKEQ QQQQQQQQQL AAQQLVFQQQ LLQMQQLQQQ QHLLSLQRQG
LISIPPGQAA LPVQSLPQAG LSPAEIQQLW KEVTGVHSME DNGIKHGGLD LTTNNSSSTT
SSNTSKASPP ITHHSIVNGQ SSVLSARRDS SSHEETGASH TLYGHGVCKW PGCESICEDF
GQFLKHLNNE HALDDRSTAQ CRVQMQVVQQ LEIQLSKERE RLQAMMTHLH MRPSEPKPSP
KPLNLVSSVT MSKNMLETSP QSLPQTPTTP TAPVTPITQG PSVITPASVP NVGAIRRRHS
DKYNIPMSSE IAPNYEFYKN ADVRPPFTYA TLIRQAIMES SDRQLTLNEI YSWFTRTFAY
FRRNAATWKN AVHHNLSLHK CFVRVENVKG AVWTVDEVEY QKRRSQKITG SPTLVKNIPT
SLGYGAALNA SLQAALAESS LPLLSNPGLI NNASSGLLQA VHEDLNGSLD HIDSNGNSSP
GCSPQPHIHS IHVKEEPVIA EDEDCPMSLV TTANHSPELE DDREIEEEPL SEDLE*
speed 0.89 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: 0.999999999999995 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM012948)
  • known disease mutation: rs5067 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr7:114302130G>AN/A show variant in all transcripts   IGV
HGNC symbol FOXP2
Ensembl transcript ID ENST00000393498
Genbank transcript ID N/A
UniProt peptide O15409
alteration type single base exchange
alteration region CDS
DNA changes c.1589G>A
cDNA.1902G>A
g.575749G>A
AA changes R530H Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 530
frameshift no
known variant Reference ID: rs121908377
Allele 'A' was neither found in ExAC nor 1000G.
known disease mutation: rs5067 (pathogenic for Speech-language disorder 1) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM012948)

known disease mutation at this position, please check HGMD for details (HGMD ID CM012948)
known disease mutation at this position, please check HGMD for details (HGMD ID CM012948)
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)6.1581
6.1581
(flanking)0.8481
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 11
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      530RRNAATWKNAVRHNLSLHKCFVRV
mutated  not conserved    530RRNAATWKNAVHHNLSLHKCFV
Ptroglodytes  all identical  ENSPTRG00000019608  554RRNAATWKNAVRHNLSLHKCFVR
Mmulatta  all identical  ENSMMUG00000008005  577RRNAATWKNAVRHNLSLHKCFVR
Fcatus  all identical  ENSFCAG00000006921  461RRNAATWKNAVRHNLSLHKCFV
Mmusculus  all identical  ENSMUSG00000029563  577RRNAATWKNAVRHNLSLHKCFVR
Ggallus  all identical  ENSGALG00000009424  467RRNAATWKNAVRHNLSLHKCFVR
Trubripes  all identical  ENSTRUG00000016830  577RRNAATWKNAVRHNLSLHKCFVR
Drerio  all identical  ENSDARG00000005453  519RRNAATWKNAVRHNLS
Dmelanogaster  all identical  FBgn0262477  377RRNAATWKNAIRTNLSLH
Celegans  all identical  F26D12.1  612RRNAATWKNAVRHNLSLHKCF
Xtropicalis  all identical  ENSXETG00000011560  527RRNAATWKNAVRHNLSLH
protein features
start (aa)end (aa)featuredetails 
504594DNA_BINDFork-head.lost
527541HELIXlost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2079 / 2079
position (AA) of stopcodon in wt / mu AA sequence 693 / 693
position of stopcodon in wt / mu cDNA 2392 / 2392
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 314 / 314
chromosome 7
strand 1
last intron/exon boundary 2248
theoretical NMD boundary in CDS 1884
length of CDS 2079
coding sequence (CDS) position 1589
cDNA position
(for ins/del: last normal base / first normal base)		 1902
gDNA position
(for ins/del: last normal base / first normal base)		 575749
chromosomal position
(for ins/del: last normal base / first normal base)		 114302130
original gDNA sequence snippet TCTGCTTTAGAATGCAGTACGTCATAATCTTAGCCTGCACA
altered gDNA sequence snippet TCTGCTTTAGAATGCAGTACATCATAATCTTAGCCTGCACA
original cDNA sequence snippet AACTTGGAAGAATGCAGTACGTCATAATCTTAGCCTGCACA
altered cDNA sequence snippet AACTTGGAAGAATGCAGTACATCATAATCTTAGCCTGCACA
wildtype AA sequence MMQESATETI SNSSMNQNGM STLSSQLDAG SRDGRSSGDT SSEVSTVELL HLQQQQALQA
ARQLLLQQQT SGLKSPKSSD KQRPLQVPVS VAMMTPQVIT PQQMQQILQQ QVLSPQQLQA
LLQQQQAVML QQQQQQQQQQ QQQQQQQQQQ QQQQQQQQQQ QQQQQQQQQH PGKQAKEQQQ
QQQQQQLAAQ QLVFQQQLLQ MQQLQQQQHL LSLQRQGLIS IPPGQAALPV QSLPQAGLSP
AEIQQLWKEV TGVHSMEDNG IKHGGLDLTT NNSSSTTSSN TSKASPPITH HSIVNGQSSV
LSARRDSSSH EETGASHTLY GHGVCKWPGC ESICEDFGQF LKHLNNEHAL DDRSTAQCRV
QMQVVQQLEI QLSKERERLQ AMMTHLHMRP SEPKPSPKPL NLVSSVTMSK NMLETSPQSL
PQTPTTPTAP VTPITQGPSV ITPASVPNVG AIRRRHSDKY NIPMSSEIAP NYEFYKNADV
RPPFTYATLI RQAIMESSDR QLTLNEIYSW FTRTFAYFRR NAATWKNAVR HNLSLHKCFV
RVENVKGAVW TVDEVEYQKR RSQKITGSPT LVKNIPTSLG YGAALNASLQ AALAESSLPL
LSNPGLINNA SSGLLQAVHE DLNGSLDHID SNGNSSPGCS PQPHIHSIHV KEEPVIAEDE
DCPMSLVTTA NHSPELEDDR EIEEEPLSED LE*
mutated AA sequence MMQESATETI SNSSMNQNGM STLSSQLDAG SRDGRSSGDT SSEVSTVELL HLQQQQALQA
ARQLLLQQQT SGLKSPKSSD KQRPLQVPVS VAMMTPQVIT PQQMQQILQQ QVLSPQQLQA
LLQQQQAVML QQQQQQQQQQ QQQQQQQQQQ QQQQQQQQQQ QQQQQQQQQH PGKQAKEQQQ
QQQQQQLAAQ QLVFQQQLLQ MQQLQQQQHL LSLQRQGLIS IPPGQAALPV QSLPQAGLSP
AEIQQLWKEV TGVHSMEDNG IKHGGLDLTT NNSSSTTSSN TSKASPPITH HSIVNGQSSV
LSARRDSSSH EETGASHTLY GHGVCKWPGC ESICEDFGQF LKHLNNEHAL DDRSTAQCRV
QMQVVQQLEI QLSKERERLQ AMMTHLHMRP SEPKPSPKPL NLVSSVTMSK NMLETSPQSL
PQTPTTPTAP VTPITQGPSV ITPASVPNVG AIRRRHSDKY NIPMSSEIAP NYEFYKNADV
RPPFTYATLI RQAIMESSDR QLTLNEIYSW FTRTFAYFRR NAATWKNAVH HNLSLHKCFV
RVENVKGAVW TVDEVEYQKR RSQKITGSPT LVKNIPTSLG YGAALNASLQ AALAESSLPL
LSNPGLINNA SSGLLQAVHE DLNGSLDHID SNGNSSPGCS PQPHIHSIHV KEEPVIAEDE
DCPMSLVTTA NHSPELEDDR EIEEEPLSED LE*
speed 0.96 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 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • known disease mutation at this position (HGMD CM012948)
  • known disease mutation: rs5067 (pathogenic)
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr7:114302130G>AN/A show variant in all transcripts   IGV
HGNC symbol FOXP2
Ensembl transcript ID ENST00000393500
Genbank transcript ID N/A
UniProt peptide N/A
alteration type single base exchange
alteration region 3'UTR
DNA changes cDNA.2408G>A
g.575749G>A
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs121908377
Allele 'A' was neither found in ExAC nor 1000G.
known disease mutation: rs5067 (pathogenic for Speech-language disorder 1) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM012948)

known disease mutation at this position, please check HGMD for details (HGMD ID CM012948)
known disease mutation at this position, please check HGMD for details (HGMD ID CM012948)
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)6.1581
6.1581
(flanking)0.8481
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 11
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features N/A
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 signal is predicted to be ok
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 821 / 821
chromosome 7
strand 1
last intron/exon boundary 2590
theoretical NMD boundary in CDS 1719
length of CDS 1149
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 2408
gDNA position
(for ins/del: last normal base / first normal base)		 575749
chromosomal position
(for ins/del: last normal base / first normal base)		 114302130
original gDNA sequence snippet TCTGCTTTAGAATGCAGTACGTCATAATCTTAGCCTGCACA
altered gDNA sequence snippet TCTGCTTTAGAATGCAGTACATCATAATCTTAGCCTGCACA
original cDNA sequence snippet AACTTGGAAGAATGCAGTACGTCATAATCTTAGCCTGCACA
altered cDNA sequence snippet AACTTGGAAGAATGCAGTACATCATAATCTTAGCCTGCACA
wildtype AA sequence MMTPQVITPQ QMQQILQQQV LSPQQLQALL QQQQAVMLQQ DFLDSGLENF RAALEKNQQL
QEFYKKQQEQ LHLQLLQQQQ QQQQQQQQQQ QQQQQQQQQQ QQQQQQQQQQ QQQQQQHPGK
QAKEQQQQQQ QQQQLAAQQL VFQQQLLQMQ QLQQQQHLLS LQRQGLISIP PGQAALPVQS
LPQAGLSPAE IQQLWKEVTG VHSMEDNGIK HGGLDLTTNN SSSTTSSNTS KASPPITHHS
IVNGQSSVLS ARRDSSSHEE TGASHTLYGH GVCKWPGCES ICEDFGQFLK HLNNEHALDD
RSTAQCRVQM QVVQQLEIQL SKERERLQAM MTHLHMRPSE PKPSPKPNIC KVTYRCIWMF
LRFSNYAEVL LYIPEKLTPV AL*
mutated AA sequence N/A
speed 0.77 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
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Problems