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: ENST00000319386
Querying Taster for transcript #2: ENST00000407970
Querying Taster for transcript #3: ENST00000409210
Querying Taster for transcript #4: ENST00000451887
MT speed 0 s - this script 4.979052 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
ITPRID1polymorphism_automatic2.48186105000769e-09simple_aaeaffectedA490Vsingle base exchangers4141001show file
ITPRID1polymorphism_automatic2.48186105000769e-09simple_aaeaffectedA342Vsingle base exchangers4141001show file
ITPRID1polymorphism_automatic2.48186105000769e-09simple_aaeaffectedA398Vsingle base exchangers4141001show file
ITPRID1polymorphism_automatic2.48186105000769e-09simple_aaeaffectedA516Vsingle base exchangers4141001show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999997518139 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM152573)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr7:31682453C>TN/A show variant in all transcripts   IGV
HGNC symbol ITPRID1
Ensembl transcript ID ENST00000407970
Genbank transcript ID NM_001257967
UniProt peptide Q6ZRS4
alteration type single base exchange
alteration region CDS
DNA changes c.1469C>T
cDNA.1507C>T
g.128750C>T
AA changes A490V Score: 64 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 490
frameshift no
known variant Reference ID: rs4141001
databasehomozygous (T/T)heterozygousallele carriers
1000G13529462298
ExAC---

known disease mutation at this position, please check HGMD for details (HGMD ID CM152573)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.5310.048
0.5740.21
(flanking)1.1660.348
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased128740wt: 0.44 / mu: 0.53wt: GGGCGAGCATGTCTTTTTCAAGCCAAGAAGCGAATGCCTTG
mu: GGGCGAGCATGTCTTTTTCAAGCCAAGAAGTGAATGCCTTG		 tcaa|GCCA
Donor marginally increased128743wt: 0.9612 / mu: 0.9724 (marginal change - not scored)wt: CAAGCCAAGAAGCGA
mu: CAAGCCAAGAAGTGA		 AGCC|aaga
distance from splice site 158
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      490SRASMSFSSQEANALEQRASVSVM
mutated  not conserved    490ASMSFSSQEVNALEQRASVSV
Ptroglodytes  all identical  ENSPTRG00000019051  490ASMSFSSQEANALEQRASVSV
Mmulatta  not conserved  ENSMMUG00000022484  290SRASASFSSQDTSALEEKASASV
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000037973  495SMTSSSLLSQDWSTLEENASASV
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000086805  458SNQKHSADSRTINPGELRK
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
793834COMPBIASCys-rich.might get lost (downstream of altered splice site)
802802CONFLICTP -> S (in Ref. 1; BAC87235).might get lost (downstream of altered splice site)
896937COILEDPotential.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3135 / 3135
position (AA) of stopcodon in wt / mu AA sequence 1045 / 1045
position of stopcodon in wt / mu cDNA 3173 / 3173
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 39 / 39
chromosome 7
strand 1
last intron/exon boundary 2862
theoretical NMD boundary in CDS 2773
length of CDS 3135
coding sequence (CDS) position 1469
cDNA position
(for ins/del: last normal base / first normal base)		 1507
gDNA position
(for ins/del: last normal base / first normal base)		 128750
chromosomal position
(for ins/del: last normal base / first normal base)		 31682453
original gDNA sequence snippet GTCTTTTTCAAGCCAAGAAGCGAATGCCTTGGAACAAAGGG
altered gDNA sequence snippet GTCTTTTTCAAGCCAAGAAGTGAATGCCTTGGAACAAAGGG
original cDNA sequence snippet GTCTTTTTCAAGCCAAGAAGCGAATGCCTTGGAACAAAGGG
altered cDNA sequence snippet GTCTTTTTCAAGCCAAGAAGTGAATGCCTTGGAACAAAGGG
wildtype AA sequence MMAQKSQGSD NLQEGQEKSK REILKCTKSA WAPLDEWLPP DPEEESQSLT IPMLEDSKQE
SIQQWLDSGF FVSANENFQQ VIDRTVSLYE QGMVQMTVKD YMRSLHQFSE TPILSRGTSF
NSCYSTASVP QSIPEWLEFW EIDPVEILLD LGFGADEPDI CMQIPARFLG CGSAARGINI
RVFLEAQKQR MDIENPNLYG RFRQLEILDH VTNAFSSLLS DVSILPNRAE EKAGGESVQR
TSVSAAKEHR RRMGKLLRRA SKQNIRRDCN PEVSESFKVK DEVFVPFTKP WDCGAELAAT
SINHKQNHLS LSVEHQSLQA CDDLLPYPPH GLLSKQWPCS SMPAKQAPPS CVSEGSVKGR
TQKENLFQTN KLKSLSHLAG KGPDSFEMEE VQSFEEETGN PLDMTSGTVG ARVDRANSCQ
SDSSGFLEEP LEPLPLQMPS LPNSQSPAEN GGRKPRDQSH SLVSSQDCQL ESDGPDSKSR
ASMSFSSQEA NALEQRASVS VMEEEFLLEA MEGPPELYIP DMACAKTTTR GECPRKDSHL
WQLLPMPHAE YEVTRPTATS KYDHPLGFMV THVTEMQDSF VRPEGAGKVQ SHHNESQRSP
GNDHTQDKFL HVDSEAPREE ESSGFCPHTN HSLLVPESSS QCIPKHSEIT PYATDLAQTS
EKLIPHLHKL PGDPAQVKSR SGTLGQILPG TEAEMENLPL NTGSSRSVMT QMSSSLVSAA
QRAVALGTGP RGTSLECTVC DPVTATETRL GTKARQLNDA SIQTSALSNK TLTHGPQPLT
KSVSLDSGFS SICPMGTCHA IPAHCCICCH HHPHCHGERQ SPGPEPSVCR HCLCSLTGHQ
EAQFMTTLKA LQDTTVRELC SCTVHEMEAM KTICQSFREY LEEIEQHLMG QQALFSRDMS
EEEREEAEQL QTLREALRQQ VAELEFQLGD RAQQIREGIL LQLEVLTAEP PEHYSNLHQY
NWIEESNGQT SCSKIHPGMA PRTVFPPDDG QEAPCSGGTQ LAAFTPPTLE NSTRMSPSSS
AWAKLGPTPL SNCPVGEKDA DVFL*
mutated AA sequence MMAQKSQGSD NLQEGQEKSK REILKCTKSA WAPLDEWLPP DPEEESQSLT IPMLEDSKQE
SIQQWLDSGF FVSANENFQQ VIDRTVSLYE QGMVQMTVKD YMRSLHQFSE TPILSRGTSF
NSCYSTASVP QSIPEWLEFW EIDPVEILLD LGFGADEPDI CMQIPARFLG CGSAARGINI
RVFLEAQKQR MDIENPNLYG RFRQLEILDH VTNAFSSLLS DVSILPNRAE EKAGGESVQR
TSVSAAKEHR RRMGKLLRRA SKQNIRRDCN PEVSESFKVK DEVFVPFTKP WDCGAELAAT
SINHKQNHLS LSVEHQSLQA CDDLLPYPPH GLLSKQWPCS SMPAKQAPPS CVSEGSVKGR
TQKENLFQTN KLKSLSHLAG KGPDSFEMEE VQSFEEETGN PLDMTSGTVG ARVDRANSCQ
SDSSGFLEEP LEPLPLQMPS LPNSQSPAEN GGRKPRDQSH SLVSSQDCQL ESDGPDSKSR
ASMSFSSQEV NALEQRASVS VMEEEFLLEA MEGPPELYIP DMACAKTTTR GECPRKDSHL
WQLLPMPHAE YEVTRPTATS KYDHPLGFMV THVTEMQDSF VRPEGAGKVQ SHHNESQRSP
GNDHTQDKFL HVDSEAPREE ESSGFCPHTN HSLLVPESSS QCIPKHSEIT PYATDLAQTS
EKLIPHLHKL PGDPAQVKSR SGTLGQILPG TEAEMENLPL NTGSSRSVMT QMSSSLVSAA
QRAVALGTGP RGTSLECTVC DPVTATETRL GTKARQLNDA SIQTSALSNK TLTHGPQPLT
KSVSLDSGFS SICPMGTCHA IPAHCCICCH HHPHCHGERQ SPGPEPSVCR HCLCSLTGHQ
EAQFMTTLKA LQDTTVRELC SCTVHEMEAM KTICQSFREY LEEIEQHLMG QQALFSRDMS
EEEREEAEQL QTLREALRQQ VAELEFQLGD RAQQIREGIL LQLEVLTAEP PEHYSNLHQY
NWIEESNGQT SCSKIHPGMA PRTVFPPDDG QEAPCSGGTQ LAAFTPPTLE NSTRMSPSSS
AWAKLGPTPL SNCPVGEKDA DVFL*
speed 1.15 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

polymorphism

 Model: simple_aae, prob: 0.999999997518139 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM152573)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr7:31682453C>TN/A show variant in all transcripts   IGV
HGNC symbol ITPRID1
Ensembl transcript ID ENST00000319386
Genbank transcript ID N/A
UniProt peptide Q6ZRS4
alteration type single base exchange
alteration region CDS
DNA changes c.1025C>T
cDNA.2018C>T
g.128750C>T
AA changes A342V Score: 64 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 342
frameshift no
known variant Reference ID: rs4141001
databasehomozygous (T/T)heterozygousallele carriers
1000G13529462298
ExAC---

known disease mutation at this position, please check HGMD for details (HGMD ID CM152573)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.5310.048
0.5740.21
(flanking)1.1660.348
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased128740wt: 0.44 / mu: 0.53wt: GGGCGAGCATGTCTTTTTCAAGCCAAGAAGCGAATGCCTTG
mu: GGGCGAGCATGTCTTTTTCAAGCCAAGAAGTGAATGCCTTG		 tcaa|GCCA
Donor marginally increased128743wt: 0.9612 / mu: 0.9724 (marginal change - not scored)wt: CAAGCCAAGAAGCGA
mu: CAAGCCAAGAAGTGA		 AGCC|aaga
distance from splice site 158
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      342SRASMSFSSQEANALEQRASVSVM
mutated  not conserved    342SRASMSFSSQEVNALEQRASVSV
Ptroglodytes  all identical  ENSPTRG00000019051  490SRASMSFSSQEANALEQRASVSV
Mmulatta  not conserved  ENSMMUG00000022484  290SRASASFSSQDTSALEEKASAS
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000037973  495SMTSSSLLSQDWSTLEENASASV
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000086805  459SNQKHSADSRTINPGELRKIIS
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
793834COMPBIASCys-rich.might get lost (downstream of altered splice site)
802802CONFLICTP -> S (in Ref. 1; BAC87235).might get lost (downstream of altered splice site)
896937COILEDPotential.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2691 / 2691
position (AA) of stopcodon in wt / mu AA sequence 897 / 897
position of stopcodon in wt / mu cDNA 3684 / 3684
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 994 / 994
chromosome 7
strand 1
last intron/exon boundary 3373
theoretical NMD boundary in CDS 2329
length of CDS 2691
coding sequence (CDS) position 1025
cDNA position
(for ins/del: last normal base / first normal base)		 2018
gDNA position
(for ins/del: last normal base / first normal base)		 128750
chromosomal position
(for ins/del: last normal base / first normal base)		 31682453
original gDNA sequence snippet GTCTTTTTCAAGCCAAGAAGCGAATGCCTTGGAACAAAGGG
altered gDNA sequence snippet GTCTTTTTCAAGCCAAGAAGTGAATGCCTTGGAACAAAGGG
original cDNA sequence snippet GTCTTTTTCAAGCCAAGAAGCGAATGCCTTGGAACAAAGGG
altered cDNA sequence snippet GTCTTTTTCAAGCCAAGAAGTGAATGCCTTGGAACAAAGGG
wildtype AA sequence MMAQKSQGSD NLQEGQEKSK REILKCTKSA WAPLDEWLPP DPEEESQSLT IPMLEDSKQE
SIQQWLDSGF FVSANENFQQ VIDRTVSLYE QGMVQMTVKD YMRSLHQFSE TPILSRGTSF
NSCYSTASVP QSIPEWLEFW EIDPVEILLD LGFGADEPDI CMQIPARFLG CGSAARGINI
RVFLEAQKQR MDIENPNLYG RFRQLEILDH VTNAFSSLLS DVSILPNRAE EKAGGESVQR
TSVQSFEEET GNPLDMTSGT VGARVDRANS CQSDSSGFLE EPLEPLPLQM PSLPNSQSPA
ENGGRKPRDQ SHSLVSSQDC QLESDGPDSK SRASMSFSSQ EANALEQRAS VSVMEEEFLL
EAMEGPPELY IPDMACAKTT TRGECPRKDS HLWQLLPMPH AEYEVTRPTA TSKYDHPLGF
MVTHVTEMQD SFVRPEGAGK VQSHHNESQR SPGNDHTQDK FLHVDSEAPR EEESSGFCPH
TNHSLLVPES SSQCIPKHSE ITPYATDLAQ TSEKLIPHLH KLPGDPAQVK SRSGTLGQIL
PGTEAEMENL PLNTGSSRSV MTQMSSSLVS AAQRAVALGT GPRGTSLECT VCDPVTATET
RLGTKARQLN DASIQTSALS NKTLTHGPQP LTKSVSLDSG FSSICPMGTC HAIPAHCCIC
CHHHPHCHGE RQSPGPEPSV CRHCLCSLTG HQEAQFMTTL KALQDTTVRE LCSCTVHEME
AMKTICQSFR EYLEEIEQHL MGQQALFSRD MSEEEREEAE QLQTLREALR QQVAELEFQL
GDRAQQIREG ILLQLEVLTA EPPEHYSNLH QYNWIEESNG QTSCSKIHPG MAPRTVFPPD
DGQEAPCSGG TQLAAFTPPT LENSTRMSPS SSAWAKLGPT PLSNCPVGEK DADVFL*
mutated AA sequence MMAQKSQGSD NLQEGQEKSK REILKCTKSA WAPLDEWLPP DPEEESQSLT IPMLEDSKQE
SIQQWLDSGF FVSANENFQQ VIDRTVSLYE QGMVQMTVKD YMRSLHQFSE TPILSRGTSF
NSCYSTASVP QSIPEWLEFW EIDPVEILLD LGFGADEPDI CMQIPARFLG CGSAARGINI
RVFLEAQKQR MDIENPNLYG RFRQLEILDH VTNAFSSLLS DVSILPNRAE EKAGGESVQR
TSVQSFEEET GNPLDMTSGT VGARVDRANS CQSDSSGFLE EPLEPLPLQM PSLPNSQSPA
ENGGRKPRDQ SHSLVSSQDC QLESDGPDSK SRASMSFSSQ EVNALEQRAS VSVMEEEFLL
EAMEGPPELY IPDMACAKTT TRGECPRKDS HLWQLLPMPH AEYEVTRPTA TSKYDHPLGF
MVTHVTEMQD SFVRPEGAGK VQSHHNESQR SPGNDHTQDK FLHVDSEAPR EEESSGFCPH
TNHSLLVPES SSQCIPKHSE ITPYATDLAQ TSEKLIPHLH KLPGDPAQVK SRSGTLGQIL
PGTEAEMENL PLNTGSSRSV MTQMSSSLVS AAQRAVALGT GPRGTSLECT VCDPVTATET
RLGTKARQLN DASIQTSALS NKTLTHGPQP LTKSVSLDSG FSSICPMGTC HAIPAHCCIC
CHHHPHCHGE RQSPGPEPSV CRHCLCSLTG HQEAQFMTTL KALQDTTVRE LCSCTVHEME
AMKTICQSFR EYLEEIEQHL MGQQALFSRD MSEEEREEAE QLQTLREALR QQVAELEFQL
GDRAQQIREG ILLQLEVLTA EPPEHYSNLH QYNWIEESNG QTSCSKIHPG MAPRTVFPPD
DGQEAPCSGG TQLAAFTPPT LENSTRMSPS SSAWAKLGPT PLSNCPVGEK DADVFL*
speed 1.39 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

polymorphism

 Model: simple_aae, prob: 0.999999997518139 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM152573)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr7:31682453C>TN/A show variant in all transcripts   IGV
HGNC symbol ITPRID1
Ensembl transcript ID ENST00000409210
Genbank transcript ID N/A
UniProt peptide Q6ZRS4
alteration type single base exchange
alteration region CDS
DNA changes c.1193C>T
cDNA.1377C>T
g.128750C>T
AA changes A398V Score: 64 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 398
frameshift no
known variant Reference ID: rs4141001
databasehomozygous (T/T)heterozygousallele carriers
1000G13529462298
ExAC---

known disease mutation at this position, please check HGMD for details (HGMD ID CM152573)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.5310.048
0.5740.21
(flanking)1.1660.348
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased128740wt: 0.44 / mu: 0.53wt: GGGCGAGCATGTCTTTTTCAAGCCAAGAAGCGAATGCCTTG
mu: GGGCGAGCATGTCTTTTTCAAGCCAAGAAGTGAATGCCTTG		 tcaa|GCCA
Donor marginally increased128743wt: 0.9612 / mu: 0.9724 (marginal change - not scored)wt: CAAGCCAAGAAGCGA
mu: CAAGCCAAGAAGTGA		 AGCC|aaga
distance from splice site 158
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      398SRASMSFSSQEANALEQRASVSVM
mutated  not conserved    398SRASMSFSSQEVNALEQRASVSV
Ptroglodytes  all identical  ENSPTRG00000019051  490SRASMSFSSQEANALEQRASVSV
Mmulatta  not conserved  ENSMMUG00000022484  290SRASASFSSQDTSALEEKASASV
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000037973  495SMTSSSLLSQDWSTLEENASASV
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000086805  459SNQKHSADSRTINPGELRKIIS
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
793834COMPBIASCys-rich.might get lost (downstream of altered splice site)
802802CONFLICTP -> S (in Ref. 1; BAC87235).might get lost (downstream of altered splice site)
896937COILEDPotential.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2859 / 2859
position (AA) of stopcodon in wt / mu AA sequence 953 / 953
position of stopcodon in wt / mu cDNA 3043 / 3043
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 185 / 185
chromosome 7
strand 1
last intron/exon boundary 3054
theoretical NMD boundary in CDS 2819
length of CDS 2859
coding sequence (CDS) position 1193
cDNA position
(for ins/del: last normal base / first normal base)		 1377
gDNA position
(for ins/del: last normal base / first normal base)		 128750
chromosomal position
(for ins/del: last normal base / first normal base)		 31682453
original gDNA sequence snippet GTCTTTTTCAAGCCAAGAAGCGAATGCCTTGGAACAAAGGG
altered gDNA sequence snippet GTCTTTTTCAAGCCAAGAAGTGAATGCCTTGGAACAAAGGG
original cDNA sequence snippet GTCTTTTTCAAGCCAAGAAGCGAATGCCTTGGAACAAAGGG
altered cDNA sequence snippet GTCTTTTTCAAGCCAAGAAGTGAATGCCTTGGAACAAAGGG
wildtype AA sequence MVQMTVKDYM RSLHQFSETP ILSRGTSFNS CYSTASVPQS IPEWLEFWEI DPVEILLDLG
FGADEPDICM QIPARFLGCG SAARGINIRV FLEAQKQRMD IENPNLYGRF RQLEILDHVT
NAFSSLLSDV SILPNRAEEK AGGESVQRTS VSAAKEHRRR MGKLLRRASK QNIRRDCNPE
VSESFKVKDE VFVPFTKPWD CGAELAATSI NHKQNHLSLS VEHQSLQACD DLLPYPPHGL
LSKQWPCSSM PAKQAPPSCV SEGSVKGRTQ KENLFQTNKL KSLSHLAGKG PDSFEMEEVQ
SFEEETGNPL DMTSGTVGAR VDRANSCQSD SSGFLEEPLE PLPLQMPSLP NSQSPAENGG
RKPRDQSHSL VSSQDCQLES DGPDSKSRAS MSFSSQEANA LEQRASVSVM EEEFLLEAME
GPPELYIPDM ACAKTTTRGE CPRKDSHLWQ LLPMPHAEYE VTRPTATSKY DHPLGFMVTH
VTEMQDSFVR PEGAGKVQSH HNESQRSPGN DHTQDKFLHV DSEAPREEES SGFCPHTNHS
LLVPESSSQC IPKHSEITPY ATDLAQTSEK LIPHLHKLPG DPAQVKSRSG TLGQILPGTE
AEMENLPLNT GSSRSVMTQM SSSLVSAAQR AVALGTGPRG TSLECTVCDP VTATETRLGT
KARQLNDASI QTSALSNKTL THGPQPLTKS VSLDSGFSSI CPMGTCHAIP AHCCICCHHH
PHCHGERQSP GPEPSVCRHC LCSLTGHQEA QFMTTLKALQ DTTVRELCSC TVHEMEAMKT
ICQSFREYLE EIEQHLMGQQ ALFSRDMSEE EREEAEQLQT LREALRQQVA ELEFQLGDRA
QQIREGILLQ LEVLTAEPPE HYSNLHQYNW IEESNGQTSC SKIHPGMAPR TVFPPDDGQE
APCSGGTQLA AFTPPTLENS TRMSPSSSAW AKLGPTPLSN CPVGEKDADV FL*
mutated AA sequence MVQMTVKDYM RSLHQFSETP ILSRGTSFNS CYSTASVPQS IPEWLEFWEI DPVEILLDLG
FGADEPDICM QIPARFLGCG SAARGINIRV FLEAQKQRMD IENPNLYGRF RQLEILDHVT
NAFSSLLSDV SILPNRAEEK AGGESVQRTS VSAAKEHRRR MGKLLRRASK QNIRRDCNPE
VSESFKVKDE VFVPFTKPWD CGAELAATSI NHKQNHLSLS VEHQSLQACD DLLPYPPHGL
LSKQWPCSSM PAKQAPPSCV SEGSVKGRTQ KENLFQTNKL KSLSHLAGKG PDSFEMEEVQ
SFEEETGNPL DMTSGTVGAR VDRANSCQSD SSGFLEEPLE PLPLQMPSLP NSQSPAENGG
RKPRDQSHSL VSSQDCQLES DGPDSKSRAS MSFSSQEVNA LEQRASVSVM EEEFLLEAME
GPPELYIPDM ACAKTTTRGE CPRKDSHLWQ LLPMPHAEYE VTRPTATSKY DHPLGFMVTH
VTEMQDSFVR PEGAGKVQSH HNESQRSPGN DHTQDKFLHV DSEAPREEES SGFCPHTNHS
LLVPESSSQC IPKHSEITPY ATDLAQTSEK LIPHLHKLPG DPAQVKSRSG TLGQILPGTE
AEMENLPLNT GSSRSVMTQM SSSLVSAAQR AVALGTGPRG TSLECTVCDP VTATETRLGT
KARQLNDASI QTSALSNKTL THGPQPLTKS VSLDSGFSSI CPMGTCHAIP AHCCICCHHH
PHCHGERQSP GPEPSVCRHC LCSLTGHQEA QFMTTLKALQ DTTVRELCSC TVHEMEAMKT
ICQSFREYLE EIEQHLMGQQ ALFSRDMSEE EREEAEQLQT LREALRQQVA ELEFQLGDRA
QQIREGILLQ LEVLTAEPPE HYSNLHQYNW IEESNGQTSC SKIHPGMAPR TVFPPDDGQE
APCSGGTQLA AFTPPTLENS TRMSPSSSAW AKLGPTPLSN CPVGEKDADV FL*
speed 1.43 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

polymorphism

 Model: simple_aae, prob: 0.999999997518139 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM152573)
  • protein features (might be) affected
  • splice site changes
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analysed issue analysis result
name of alteration no title
alteration (phys. location) chr7:31682453C>TN/A show variant in all transcripts   IGV
HGNC symbol ITPRID1
Ensembl transcript ID ENST00000451887
Genbank transcript ID NM_001257968
UniProt peptide Q6ZRS4
alteration type single base exchange
alteration region CDS
DNA changes c.1547C>T
cDNA.1559C>T
g.128750C>T
AA changes A516V Score: 64 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 516
frameshift no
known variant Reference ID: rs4141001
databasehomozygous (T/T)heterozygousallele carriers
1000G13529462298
ExAC---

known disease mutation at this position, please check HGMD for details (HGMD ID CM152573)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.5310.048
0.5740.21
(flanking)1.1660.348
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased128740wt: 0.44 / mu: 0.53wt: GGGCGAGCATGTCTTTTTCAAGCCAAGAAGCGAATGCCTTG
mu: GGGCGAGCATGTCTTTTTCAAGCCAAGAAGTGAATGCCTTG		 tcaa|GCCA
Donor marginally increased128743wt: 0.9612 / mu: 0.9724 (marginal change - not scored)wt: CAAGCCAAGAAGCGA
mu: CAAGCCAAGAAGTGA		 AGCC|aaga
distance from splice site 158
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      516SRASMSFSSQEANALEQRASVSVM
mutated  not conserved    516SRASMSFSSQEVNALEQRASVSV
Ptroglodytes  all identical  ENSPTRG00000019051  490ASMSFSSQEANALEQRASVSV
Mmulatta  not conserved  ENSMMUG00000022484  290SRASASFSSQDTSALEEKASASV
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000037973  495SMTSSSLLSQDWSTLEENASASV
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000086805  458SNQKHSADSRTINPGELRK
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
793834COMPBIASCys-rich.might get lost (downstream of altered splice site)
802802CONFLICTP -> S (in Ref. 1; BAC87235).might get lost (downstream of altered splice site)
896937COILEDPotential.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3189 / 3189
position (AA) of stopcodon in wt / mu AA sequence 1063 / 1063
position of stopcodon in wt / mu cDNA 3201 / 3201
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 13 / 13
chromosome 7
strand 1
last intron/exon boundary 3080
theoretical NMD boundary in CDS 3017
length of CDS 3189
coding sequence (CDS) position 1547
cDNA position
(for ins/del: last normal base / first normal base)		 1559
gDNA position
(for ins/del: last normal base / first normal base)		 128750
chromosomal position
(for ins/del: last normal base / first normal base)		 31682453
original gDNA sequence snippet GTCTTTTTCAAGCCAAGAAGCGAATGCCTTGGAACAAAGGG
altered gDNA sequence snippet GTCTTTTTCAAGCCAAGAAGTGAATGCCTTGGAACAAAGGG
original cDNA sequence snippet GTCTTTTTCAAGCCAAGAAGCGAATGCCTTGGAACAAAGGG
altered cDNA sequence snippet GTCTTTTTCAAGCCAAGAAGTGAATGCCTTGGAACAAAGGG
wildtype AA sequence MPTTASCKTI SLLKLLYSVS LQNYSPMMAQ KSQGSDNLQE GQEKSKREIL KCTKSAWAPL
DEWLPPDPEE ESQSLTIPML EDSKQESIQQ WLDSGFFVSA NENFQQVIDR TVSLYEQGMV
QMTVKDYMRS LHQFSETPIL SRGTSFNSCY STASVPQSIP EWLEFWEIDP VEILLDLGFG
ADEPDICMQI PARFLGCGSA ARGINIRVFL EAQKQRMDIE NPNLYGRFRQ LEILDHVTNA
FSSLLSDVSI LPNRAEEKAG GESVQRTSVS AAKEHRRRMG KLLRRASKQN IRRDCNPEVS
ESFKVKDEVF VPFTKPWDCG AELAATSINH KQNHLSLSVE HQSLQACDDL LPYPPHGLLS
KQWPCSSMPA KQAPPSCVSE GSVKGRTQKE NLFQTNKLKS LSHLAGKGPD SFEMEEVQSF
EEETGNPLDM TSGTVGARVD RANSCQSDSS GFLEEPLEPL PLQMPSLPNS QSPAENGGRK
PRDQSHSLVS SQDCQLESDG PDSKSRASMS FSSQEANALE QRASVSVMEE EFLLEAMEGP
PELYIPDMAC AKTTTRGECP RKDSHLWQLL PMPHAEYEVT RPTATSKYDH PLGFMVTHVT
EMQDSFVRPE GAGKVQSHHN ESQRSPGNDH TQDKFLHVDS EAPREEESSG FCPHTNHSLL
VPESSSQCIP KHSEITPYAT DLAQTSEKLI PHLHKLPGDP AQVKSRSGTL GQILPGTEAE
MENLPLNTGS SRSVMTQMSS SLVSAAQRAV ALGTGPRGTS LECTVCDPVT ATETRLGTKA
RQLNDASIQT SALSNKTLTH GPQPLTKSVS LDSGFSSICP MGTCHAIPAH CCICCHHHPH
CHGERQSPGP EPSVCRHCLC SLTGHQEAQF MTTLKALQDT TVRELCSCTV HEMEAMKTIC
QSFREYLEEI EQHLMGQQAL FSRDMSEEER EEAEQLQTLR EALRQQVAEL EFQLGDRAQQ
IREGILLQLE VLTAEPPEHY SNLHQYNWIE ESNGQTSCSK IHPGMAPRTV FPPDDGQEAP
CSGELLSAEL DPFFFSSKAN NSAKDEKIKS KDFLKTQDSG LL*
mutated AA sequence MPTTASCKTI SLLKLLYSVS LQNYSPMMAQ KSQGSDNLQE GQEKSKREIL KCTKSAWAPL
DEWLPPDPEE ESQSLTIPML EDSKQESIQQ WLDSGFFVSA NENFQQVIDR TVSLYEQGMV
QMTVKDYMRS LHQFSETPIL SRGTSFNSCY STASVPQSIP EWLEFWEIDP VEILLDLGFG
ADEPDICMQI PARFLGCGSA ARGINIRVFL EAQKQRMDIE NPNLYGRFRQ LEILDHVTNA
FSSLLSDVSI LPNRAEEKAG GESVQRTSVS AAKEHRRRMG KLLRRASKQN IRRDCNPEVS
ESFKVKDEVF VPFTKPWDCG AELAATSINH KQNHLSLSVE HQSLQACDDL LPYPPHGLLS
KQWPCSSMPA KQAPPSCVSE GSVKGRTQKE NLFQTNKLKS LSHLAGKGPD SFEMEEVQSF
EEETGNPLDM TSGTVGARVD RANSCQSDSS GFLEEPLEPL PLQMPSLPNS QSPAENGGRK
PRDQSHSLVS SQDCQLESDG PDSKSRASMS FSSQEVNALE QRASVSVMEE EFLLEAMEGP
PELYIPDMAC AKTTTRGECP RKDSHLWQLL PMPHAEYEVT RPTATSKYDH PLGFMVTHVT
EMQDSFVRPE GAGKVQSHHN ESQRSPGNDH TQDKFLHVDS EAPREEESSG FCPHTNHSLL
VPESSSQCIP KHSEITPYAT DLAQTSEKLI PHLHKLPGDP AQVKSRSGTL GQILPGTEAE
MENLPLNTGS SRSVMTQMSS SLVSAAQRAV ALGTGPRGTS LECTVCDPVT ATETRLGTKA
RQLNDASIQT SALSNKTLTH GPQPLTKSVS LDSGFSSICP MGTCHAIPAH CCICCHHHPH
CHGERQSPGP EPSVCRHCLC SLTGHQEAQF MTTLKALQDT TVRELCSCTV HEMEAMKTIC
QSFREYLEEI EQHLMGQQAL FSRDMSEEER EEAEQLQTLR EALRQQVAEL EFQLGDRAQQ
IREGILLQLE VLTAEPPEHY SNLHQYNWIE ESNGQTSCSK IHPGMAPRTV FPPDDGQEAP
CSGELLSAEL DPFFFSSKAN NSAKDEKIKS KDFLKTQDSG LL*
speed 0.13 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