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 1.17 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