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 0.62 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