Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999230213 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr19:3750615T>CN/A show variant in all transcripts   IGV
HGNC symbol TJP3
Ensembl transcript ID ENST00000589378
Genbank transcript ID NM_001267561
UniProt peptide O95049
alteration type single base exchange
alteration region CDS
DNA changes c.2720T>C
cDNA.2876T>C
g.42509T>C
AA changes M907T Score: 81 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 907
frameshift no
known variant Reference ID: rs1046268
databasehomozygous (C/C)heterozygousallele carriers
1000G76011511911
ExAC16744-72116023
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)3.4220.56
0.6090.291
(flanking)-2.2640.004
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased42508wt: 0.9480 / mu: 0.9843 (marginal change - not scored)wt: AGTTTATGCGAGTAC
mu: AGTTTACGCGAGTAC		 TTTA|tgcg
Donor increased42503wt: 0.45 / mu: 0.57wt: GAAAAAGTTTATGCG
mu: GAAAAAGTTTACGCG		 AAAA|gttt
Donor gained425040.41mu: AAAAAGTTTACGCGA AAAG|ttta
distance from splice site 36
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      907TYEREALKKKFMRVHDAESSDEDG
mutated  not conserved    907ALKKKFTRVHDAESSDED
Ptroglodytes  not conserved  ENSPTRG00000010274  931TYEREALKKKFTRVHDAESSDED
Mmulatta  all conserved  ENSMMUG00000028930  355TYEREALKKKFIRVRDA
Fcatus  no alignment  ENSFCAG00000007142  n/a
Mmusculus  not conserved  ENSMUSG00000034917  883RKKFTRARDVESSDDE
Ggallus  not conserved  ENSGALG00000000748  916NYEHEAVRKRFTRARD-DSDEDE
Trubripes  not conserved  ENSTRUG00000018210  896SVHREAIQFRRTQIRGSDSSDDDEEEAD
Drerio  no alignment  ENSDARG00000002909  n/a
Dmelanogaster  no alignment  FBgn0262614  n/a
Celegans  no alignment  Y105E8A.26  n/a
Xtropicalis  not conserved  ENSXETG00000006407  885EYEHDALRKKFNNARYSSSDEEE
protein features
start (aa)end (aa)featuredetails 
919919MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
920920MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2787 / 2787
position (AA) of stopcodon in wt / mu AA sequence 929 / 929
position of stopcodon in wt / mu cDNA 2943 / 2943
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 157 / 157
chromosome 19
strand 1
last intron/exon boundary 2841
theoretical NMD boundary in CDS 2634
length of CDS 2787
coding sequence (CDS) position 2720
cDNA position
(for ins/del: last normal base / first normal base)		 2876
gDNA position
(for ins/del: last normal base / first normal base)		 42509
chromosomal position
(for ins/del: last normal base / first normal base)		 3750615
original gDNA sequence snippet AGCCCTGAAGAAAAAGTTTATGCGAGTACATGATGCGGAGT
altered gDNA sequence snippet AGCCCTGAAGAAAAAGTTTACGCGAGTACATGATGCGGAGT
original cDNA sequence snippet AGCCCTGAAGAAAAAGTTTATGCGAGTACATGATGCGGAGT
altered cDNA sequence snippet AGCCCTGAAGAAAAAGTTTACGCGAGTACATGATGCGGAGT
wildtype AA sequence MAVRFQVADM EELTIWEQHT ATLSKDPRRG FGIAISGGRD RPGGSMVVSD VVPGGPAEGR
LQTGDHIVMV NGVSMENATS AFAIQILKTC TKMANITVKR PRRIHLPATK ASPSSPGRQD
SDEDDGPQRV EEVDQGRGYD GDSSSGSGRS WDERSRRPRP GRRGRAGSHG RRSPGGGSEA
NGLALVSGFK RLPRQDVQMK PVKSVLVKRR DSEEFGVKLG SQIFIKHITD SGLAARHRGL
QEGDLILQIN GVSSQNLSLN DTRRLIEKSE GKLSLLVLRD RGQFLVNIPP AVSDSDSSPL
EDISDLASEL SQAPPSHIPP PPRHAQRSPE ASQTDSPVES PRLRRESSVD SRTISEPDEQ
RSELPRESSY DIYRVPSSQS MEDRGYSPDT RVVRFLKGKS IGLRLAGGND VGIFVSGVQA
GSPADGQGIQ EGDQILQVND VPFQNLTREE AVQFLLGLPP GEEMELVTQR KQDIFWKMVQ
SRVGDSFYIR THFELEPSPP SGLGFTRGDV FHVLDTLHPG PGQSHARGGH WLAVRMGRDL
REQERGIIPN QSRAEQLASL EAAQRAVGVG PGSSAGSNAR AEFWRLRGLR RGAKKTTQRS
REDLSALTRQ GRYPPYERVV LREASFKRPV VILGPVADIA MQKLTAEMPD QFEIAETVSR
TDSPSKIIKL DTVRVIAEKD KHALLDVTPS AIERLNYVQY YPIVVFFIPE SRPALKALRQ
WLAPASRRST RRLYAQAQKL RKHSSHLFTA TIPLNGTSDT WYQELKAIIR EQQTRPIWTA
EDQLDGSLED NLDLPHHGLA DSSADLSCDS RVNSDYETDG EGGAYTDGEG YTDGEGGPYT
DVDDEPPAPA LARSSEPVQA DESQSPRDRG RISAHQGAQV DSRHPQGQWR QDSMRTYERE
ALKKKFMRVH DAESSDEDGY DWGPATDL*
mutated AA sequence MAVRFQVADM EELTIWEQHT ATLSKDPRRG FGIAISGGRD RPGGSMVVSD VVPGGPAEGR
LQTGDHIVMV NGVSMENATS AFAIQILKTC TKMANITVKR PRRIHLPATK ASPSSPGRQD
SDEDDGPQRV EEVDQGRGYD GDSSSGSGRS WDERSRRPRP GRRGRAGSHG RRSPGGGSEA
NGLALVSGFK RLPRQDVQMK PVKSVLVKRR DSEEFGVKLG SQIFIKHITD SGLAARHRGL
QEGDLILQIN GVSSQNLSLN DTRRLIEKSE GKLSLLVLRD RGQFLVNIPP AVSDSDSSPL
EDISDLASEL SQAPPSHIPP PPRHAQRSPE ASQTDSPVES PRLRRESSVD SRTISEPDEQ
RSELPRESSY DIYRVPSSQS MEDRGYSPDT RVVRFLKGKS IGLRLAGGND VGIFVSGVQA
GSPADGQGIQ EGDQILQVND VPFQNLTREE AVQFLLGLPP GEEMELVTQR KQDIFWKMVQ
SRVGDSFYIR THFELEPSPP SGLGFTRGDV FHVLDTLHPG PGQSHARGGH WLAVRMGRDL
REQERGIIPN QSRAEQLASL EAAQRAVGVG PGSSAGSNAR AEFWRLRGLR RGAKKTTQRS
REDLSALTRQ GRYPPYERVV LREASFKRPV VILGPVADIA MQKLTAEMPD QFEIAETVSR
TDSPSKIIKL DTVRVIAEKD KHALLDVTPS AIERLNYVQY YPIVVFFIPE SRPALKALRQ
WLAPASRRST RRLYAQAQKL RKHSSHLFTA TIPLNGTSDT WYQELKAIIR EQQTRPIWTA
EDQLDGSLED NLDLPHHGLA DSSADLSCDS RVNSDYETDG EGGAYTDGEG YTDGEGGPYT
DVDDEPPAPA LARSSEPVQA DESQSPRDRG RISAHQGAQV DSRHPQGQWR QDSMRTYERE
ALKKKFTRVH DAESSDEDGY DWGPATDL*
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