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MutationTaster - study a chromosomal position

MTQE documentation
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input seems to be ok - now mapping the variant to the different transcripts...
found 1 transcript(s)...
Querying Taster for transcript #1: ENST00000406386
MT speed 1.53 s - this script 5.792927 s

Results


genesymbolpredictionprobabilitymodelprediction
problem
splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
TRIOBPpolymorphism_automatic0.000486904641303965simple_aaeF1187Lsingle base exchangers5756795show file

Taster files

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Prediction

polymorphism

Model: simple_aae, prob: 0.999513095358696 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr22:38122122T>CN/A show variant in all transcripts   IGV
HGNC symbol TRIOBP
Ensembl transcript ID ENST00000406386
Genbank transcript ID NM_001039141
UniProt peptide Q9H2D6
alteration type single base exchange
alteration region CDS
DNA changes c.3559T>C
cDNA.3814T>C
g.29112T>C
AA changes F1187L Score: 22 explain score(s)
position(s) of altered AA
if AA alteration in CDS
1187
frameshift no
known variant Reference ID: rs5756795
databasehomozygous (C/C)heterozygousallele carriers
1000G3549781332
ExAC98381309122929
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.2740.976
0.1680.977
(flanking)0.8860.989
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased29113wt: 0.2301 / mu: 0.2522 (marginal change - not scored)wt: GGCTCCTGAGCCATCCCTCTTCTTCCAGGATCCCCCTGGAA
mu: GGCTCCTGAGCCATCCCTCCTCTTCCAGGATCCCCCTGGAA
 tctt|CTTC
Acc marginally increased29119wt: 0.9708 / mu: 0.9750 (marginal change - not scored)wt: TGAGCCATCCCTCTTCTTCCAGGATCCCCCTGGAACTAGTA
mu: TGAGCCATCCCTCCTCTTCCAGGATCCCCCTGGAACTAGTA
 tcca|GGAT
distance from splice site 389
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1187SPPRQAPEPSLFFQDPPGTSMESL
mutated  not conserved    1187SPPRQAPEPSLLFQDPPGTSMES
Ptroglodytes  no homologue    
Mmulatta  not conserved  ENSMMUG00000005991  73RSPEKRPEGDRRLQGSPPPPRTSA
Fcatus  all identical  ENSFCAG00000004275  1117SPPRQAREPSLFFQDPPGTSMES
Mmusculus  all identical  ENSMUSG00000033088  852SPPRQAPEPSLFFQDPPGTSMES
Ggallus  no alignment  ENSGALG00000012558  n/a
Trubripes  no alignment  ENSTRUG00000007320  n/a
Drerio  no alignment  ENSDARG00000006385  n/a
Dmelanogaster  no alignment  FBgn0003016  n/a
Celegans  no alignment  F10G8.8  n/a
Xtropicalis  no alignment  ENSXETG00000015970  n/a
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 7098 / 7098
position (AA) of stopcodon in wt / mu AA sequence 2366 / 2366
position of stopcodon in wt / mu cDNA 7353 / 7353
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 256 / 256
chromosome 22
strand 1
last intron/exon boundary 7356
theoretical NMD boundary in CDS 7050
length of CDS 7098
coding sequence (CDS) position 3559
cDNA position
(for ins/del: last normal base / first normal base)
3814
gDNA position
(for ins/del: last normal base / first normal base)
29112
chromosomal position
(for ins/del: last normal base / first normal base)
38122122
original gDNA sequence snippet AGGCTCCTGAGCCATCCCTCTTCTTCCAGGATCCCCCTGGA
altered gDNA sequence snippet AGGCTCCTGAGCCATCCCTCCTCTTCCAGGATCCCCCTGGA
original cDNA sequence snippet AGGCTCCTGAGCCATCCCTCTTCTTCCAGGATCCCCCTGGA
altered cDNA sequence snippet AGGCTCCTGAGCCATCCCTCCTCTTCCAGGATCCCCCTGGA
wildtype AA sequence MEEVPGDALC EHFEANILTQ NRCQNCFHPE EAHGARYQEL RSPSGAEVPY CDLPRCPPAP
EDPLSASTSG CQSVVDPGLR PGPKRGPSPS AGLPEEGPTA APRSRSRELE AVPYLEGLTT
SLCGSCNEDP GSDPTSSPDS ATPDDTSNSS SVDWDTVERQ EEEAPSWDEL AVMIPRRPRE
GPRADSSQRA PSLLTRSPVG GDAAGQKKED TGGGGRSAGQ HWARLRGESG LSLERHRSTL
TQASSMTPHS GPRSTTSQAS PAQRDTAQAA STREIPRASS PHRITQRDTS RASSTQQEIS
RASSTQQETS RASSTQEDTP RASSTQEDTP RASSTQWNTP RASSPSRSTQ LDNPRTSSTQ
QDNPQTSFPT CTPQRENPRT PCVQQDDPRA SSPNRTTQRE NSRTSCAQRD NPKASRTSSP
NRATRDNPRT SCAQRDNPRA SSPSRATRDN PTTSCAQRDN PRASRTSSPN RATRDNPRTS
CAQRDNPRAS SPSRATRDNP TTSCAQRDNP RASRTSSPNR ATRDNPRTSC AQRDNPRASS
PNRAARDNPT TSCAQRDNPR ASRTSSPNRA TRDNPRTSCA QRDNPRASSP NRATRDNPTT
SCAQRDNPRA SRTSSPNRAT RDNPRTSCAQ RDNPRASSPN RTTQQDSPRT SCARRDDPRA
SSPNRTIQQE NPRTSCALRD NPRASSPSRT IQQENPRTSC AQRDDPRASS PNRTTQQENP
RTSCARRDNP RASSRNRTIQ RDNPRTSCAQ RDNPRASSPN RTIQQENLRT SCTRQDNPRT
SSPNRATRDN PRTSCAQRDN LRASSPIRAT QQDNPRTCIQ QNIPRSSSTQ QDNPKTSCTK
RDNLRPTCTQ RDRTQSFSFQ RDNPGTSSSQ CCTQKENLRP SSPHRSTQWN NPRNSSPHRT
NKDIPWASFP LRPTQSDGPR TSSPSRSKQS EVPWASIALR PTQGDRPQTS SPSRPAQHDP
PQSSFGPTQY NLPSRATSSS HNPGHQSTSR TSSPVYPAAY GAPLTSPEPS QPPCAVCIGH
RDAPRASSPP RYLQHDPFPF FPEPRAPESE PPHHEPPYIP PAVCIGHRDA PRASSPPRHT
QFDPFPFLPD TSDAEHQCQS PQHEPLQLPA PVCIGYRDAP RASSPPRQAP EPSLLFQDLP
RASTESLVPS MDSLHECPHI PTPVCIGHRD APSFSSPPRQ APEPSLFFQD PPGTSMESLA
PSTDSLHGSP VLIPQVCIGH RDAPRASSPP RHPPSDLAFL APSPSPGSSG GSRGSAPPGE
TRHNLEREEY TVLADLPPPR RLAQRQPGPQ AQCSSGGRTH SPGRAEVERL FGQERRKSEA
AGAFQAQDEG RSQQPSQGQS QLLRRQSSPA PSRQVTMLPA KQAELTRRSQ AEPPHPWSPE
KRPEGDRQLQ GSPLPPRTSA RTPERELRTQ RPLESGQAGP RQPLGVWQSQ EEPPGSQGPH
RHLERSWSSQ EGGLGPGGWW GCGEPSLGAA KAPEGAWGGT SREYKESWGQ PEAWEEKPTH
ELPRELGKRS PLTSPPENWG GPAESSQSWH SGTPTAVGWG AEGACPYPRG SERRPELDWR
DLLGLLRAPG EGVWARVPSL DWEGLLELLQ ARLPRKDPAG HRDDLARALG PELGPPGTND
VPEQESHSQP EGWAEATPVN GHSPALQSQS PVQLPSPACT STQWPKIKVT RGPATATLAG
LEQTGPLGSR STAKGPSLPE LQFQPEEPEE SEPSRGQDPL TDQKQADSAD KRPAEGKAGS
PLKGRLVTSW RMPGDRPTLF NPFLLSLGVL RWRRPDLLNF KKGWMSILDE PGEPPSPSLT
TTSTSQWKKH WFVLTDSSLK YYRDSTAEEA DELDGEIDLR SCTDVTEYAV QRNYGFQIHT
KDAVYTLSAM TSGIRRNWIE ALRKTVRPTS APDVTKLSDS NKENALHSYS TQKGPLKAGE
QRAGSEVISR GGPRKADGQR QALDYVELSP LTQASPQRAR TPARTPDRLA KQEELERDLA
QRSEERRKWF EATDSRTPEV PAGEGPRRGL GAPLTEDQQN RLSEEIEKKW QELEKLPLRE
NKRVPLTALL NQSRGERRGP PSDGHEALEK EVQALRAQLE AWRLQGEAPQ SALRSQEDGH
IPPGYISQEA CERSLAEMES SHQQVMEELQ RHHERELQRL QQEKEWLLAE ETAATASAIE
AMKKAYQEEL SRELSKTRSL QQGPDGLRKQ HQSDVEALKR ELQVLSEQYS QKCLEIGALM
RQAEEREHTL RRCQQEGQEL LRHNQELHGR LSEEIDQLRG FIASQGMGNG CGRSNERSSC
ELEVLLRVKE NELQYLKKEV QCLRDELQMM QKDKRFTSGK YQDVYVELSH IKTRSEREIE
QLKEHLRLAM AALQEKESMR NSLAE*
mutated AA sequence MEEVPGDALC EHFEANILTQ NRCQNCFHPE EAHGARYQEL RSPSGAEVPY CDLPRCPPAP
EDPLSASTSG CQSVVDPGLR PGPKRGPSPS AGLPEEGPTA APRSRSRELE AVPYLEGLTT
SLCGSCNEDP GSDPTSSPDS ATPDDTSNSS SVDWDTVERQ EEEAPSWDEL AVMIPRRPRE
GPRADSSQRA PSLLTRSPVG GDAAGQKKED TGGGGRSAGQ HWARLRGESG LSLERHRSTL
TQASSMTPHS GPRSTTSQAS PAQRDTAQAA STREIPRASS PHRITQRDTS RASSTQQEIS
RASSTQQETS RASSTQEDTP RASSTQEDTP RASSTQWNTP RASSPSRSTQ LDNPRTSSTQ
QDNPQTSFPT CTPQRENPRT PCVQQDDPRA SSPNRTTQRE NSRTSCAQRD NPKASRTSSP
NRATRDNPRT SCAQRDNPRA SSPSRATRDN PTTSCAQRDN PRASRTSSPN RATRDNPRTS
CAQRDNPRAS SPSRATRDNP TTSCAQRDNP RASRTSSPNR ATRDNPRTSC AQRDNPRASS
PNRAARDNPT TSCAQRDNPR ASRTSSPNRA TRDNPRTSCA QRDNPRASSP NRATRDNPTT
SCAQRDNPRA SRTSSPNRAT RDNPRTSCAQ RDNPRASSPN RTTQQDSPRT SCARRDDPRA
SSPNRTIQQE NPRTSCALRD NPRASSPSRT IQQENPRTSC AQRDDPRASS PNRTTQQENP
RTSCARRDNP RASSRNRTIQ RDNPRTSCAQ RDNPRASSPN RTIQQENLRT SCTRQDNPRT
SSPNRATRDN PRTSCAQRDN LRASSPIRAT QQDNPRTCIQ QNIPRSSSTQ QDNPKTSCTK
RDNLRPTCTQ RDRTQSFSFQ RDNPGTSSSQ CCTQKENLRP SSPHRSTQWN NPRNSSPHRT
NKDIPWASFP LRPTQSDGPR TSSPSRSKQS EVPWASIALR PTQGDRPQTS SPSRPAQHDP
PQSSFGPTQY NLPSRATSSS HNPGHQSTSR TSSPVYPAAY GAPLTSPEPS QPPCAVCIGH
RDAPRASSPP RYLQHDPFPF FPEPRAPESE PPHHEPPYIP PAVCIGHRDA PRASSPPRHT
QFDPFPFLPD TSDAEHQCQS PQHEPLQLPA PVCIGYRDAP RASSPPRQAP EPSLLFQDLP
RASTESLVPS MDSLHECPHI PTPVCIGHRD APSFSSPPRQ APEPSLLFQD PPGTSMESLA
PSTDSLHGSP VLIPQVCIGH RDAPRASSPP RHPPSDLAFL APSPSPGSSG GSRGSAPPGE
TRHNLEREEY TVLADLPPPR RLAQRQPGPQ AQCSSGGRTH SPGRAEVERL FGQERRKSEA
AGAFQAQDEG RSQQPSQGQS QLLRRQSSPA PSRQVTMLPA KQAELTRRSQ AEPPHPWSPE
KRPEGDRQLQ GSPLPPRTSA RTPERELRTQ RPLESGQAGP RQPLGVWQSQ EEPPGSQGPH
RHLERSWSSQ EGGLGPGGWW GCGEPSLGAA KAPEGAWGGT SREYKESWGQ PEAWEEKPTH
ELPRELGKRS PLTSPPENWG GPAESSQSWH SGTPTAVGWG AEGACPYPRG SERRPELDWR
DLLGLLRAPG EGVWARVPSL DWEGLLELLQ ARLPRKDPAG HRDDLARALG PELGPPGTND
VPEQESHSQP EGWAEATPVN GHSPALQSQS PVQLPSPACT STQWPKIKVT RGPATATLAG
LEQTGPLGSR STAKGPSLPE LQFQPEEPEE SEPSRGQDPL TDQKQADSAD KRPAEGKAGS
PLKGRLVTSW RMPGDRPTLF NPFLLSLGVL RWRRPDLLNF KKGWMSILDE PGEPPSPSLT
TTSTSQWKKH WFVLTDSSLK YYRDSTAEEA DELDGEIDLR SCTDVTEYAV QRNYGFQIHT
KDAVYTLSAM TSGIRRNWIE ALRKTVRPTS APDVTKLSDS NKENALHSYS TQKGPLKAGE
QRAGSEVISR GGPRKADGQR QALDYVELSP LTQASPQRAR TPARTPDRLA KQEELERDLA
QRSEERRKWF EATDSRTPEV PAGEGPRRGL GAPLTEDQQN RLSEEIEKKW QELEKLPLRE
NKRVPLTALL NQSRGERRGP PSDGHEALEK EVQALRAQLE AWRLQGEAPQ SALRSQEDGH
IPPGYISQEA CERSLAEMES SHQQVMEELQ RHHERELQRL QQEKEWLLAE ETAATASAIE
AMKKAYQEEL SRELSKTRSL QQGPDGLRKQ HQSDVEALKR ELQVLSEQYS QKCLEIGALM
RQAEEREHTL RRCQQEGQEL LRHNQELHGR LSEEIDQLRG FIASQGMGNG CGRSNERSSC
ELEVLLRVKE NELQYLKKEV QCLRDELQMM QKDKRFTSGK YQDVYVELSH IKTRSEREIE
QLKEHLRLAM AALQEKESMR NSLAE*
speed 1.53 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