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
  • 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 ENST00000262968
Genbank transcript ID NM_001267560
UniProt peptide O95049
alteration type single base exchange
alteration region CDS
DNA changes c.2792T>C
cDNA.2792T>C
g.42509T>C
AA changes M931T Score: 81 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 931
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      931TYEREALKKKFMRVHDAESSDEDG
mutated  not conserved    931TYEREALKKKFTRVHDAESSDED
Ptroglodytes  not conserved  ENSPTRG00000010274  931TYEREALKKKFTRVHDAESSDED
Mmulatta  all conserved  ENSMMUG00000028930  355TYEREALKKKFIRVRDA
Fcatus  no alignment  ENSFCAG00000007142  n/a
Mmusculus  not conserved  ENSMUSG00000034917  883TYKHEALRKKFTRARDVESSDDE
Ggallus  not conserved  ENSGALG00000000748  915NYEHEAVRKRFTRARD-DSDED
Trubripes  not conserved  ENSTRUG00000018210  897SVHREAIQFRRTQIRGSDSSD
Drerio  no alignment  ENSDARG00000002909  n/a
Dmelanogaster  no alignment  FBgn0262614  n/a
Celegans  no alignment  Y105E8A.26  n/a
Xtropicalis  not conserved  ENSXETG00000006407  884EYEHDALRKKFNNARYSSSDEEE
protein features no protein features affected
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 2859 / 2859
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 1 / 1
chromosome 19
strand 1
last intron/exon boundary 2757
theoretical NMD boundary in CDS 2706
length of CDS 2859
coding sequence (CDS) position 2792
cDNA position
(for ins/del: last normal base / first normal base)		 2792
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 MNLCGLMPIF PAPLDQVADM 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 EEGVTMADEM SSPPADISDL ASELSQAPPS HIPPPPRHAQ RSPEASQTDS
PVESPRLRRE SSVDSRTISE PDEQRSELPR ESSYDIYRVP SSQSMEDRGY SPDTRVVRFL
KGKSIGLRLA GGNDVGIFVS GVQAGSPADG QGIQEGDQIL QVNDVPFQNL TREEAVQFLL
GLPPGEEMEL VTQRKQDIFW KMVQSRVGDS FYIRTHFELE PSPPSGLGFT RGDVFHVLDT
LHPGPGQSHA RGGHWLAVRM GRDLREQERG IIPNQSRAEQ LASLEAAQRA VGVGPGSSAG
SNARAEFWRL RGLRRGAKKT TQRSREDLSA LTRQGRYPPY ERVVLREASF KRPVVILGPV
ADIAMQKLTA EMPDQFEIAE TVSRTDSPSK IIKLDTVRVI AEKDKHALLD VTPSAIERLN
YVQYYPIVVF FIPESRPALK ALRQWLAPAS RRSTRRLYAQ AQKLRKHSSH LFTATIPLNG
TSDTWYQELK AIIREQQTRP IWTAEDQLDG SLEDNLDLPH HGLADSSADL SCDSRVNSDY
ETDGEGGAYT DGEGYTDGEG GPYTDVDDEP PAPALARSSE PVQADESQSP RDRGRISAHQ
GAQVDSRHPQ GQWRQDSMRT YEREALKKKF MRVHDAESSD EDGYDWGPAT DL*
mutated AA sequence MNLCGLMPIF PAPLDQVADM 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 EEGVTMADEM SSPPADISDL ASELSQAPPS HIPPPPRHAQ RSPEASQTDS
PVESPRLRRE SSVDSRTISE PDEQRSELPR ESSYDIYRVP SSQSMEDRGY SPDTRVVRFL
KGKSIGLRLA GGNDVGIFVS GVQAGSPADG QGIQEGDQIL QVNDVPFQNL TREEAVQFLL
GLPPGEEMEL VTQRKQDIFW KMVQSRVGDS FYIRTHFELE PSPPSGLGFT RGDVFHVLDT
LHPGPGQSHA RGGHWLAVRM GRDLREQERG IIPNQSRAEQ LASLEAAQRA VGVGPGSSAG
SNARAEFWRL RGLRRGAKKT TQRSREDLSA LTRQGRYPPY ERVVLREASF KRPVVILGPV
ADIAMQKLTA EMPDQFEIAE TVSRTDSPSK IIKLDTVRVI AEKDKHALLD VTPSAIERLN
YVQYYPIVVF FIPESRPALK ALRQWLAPAS RRSTRRLYAQ AQKLRKHSSH LFTATIPLNG
TSDTWYQELK AIIREQQTRP IWTAEDQLDG SLEDNLDLPH HGLADSSADL SCDSRVNSDY
ETDGEGGAYT DGEGYTDGEG GPYTDVDDEP PAPALARSSE PVQADESQSP RDRGRISAHQ
GAQVDSRHPQ GQWRQDSMRT YEREALKKKF TRVHDAESSD EDGYDWGPAT DL*
speed 1.11 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