Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 1 (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
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr13:75884216C>TN/A show variant in all transcripts   IGV
HGNC symbol TBC1D4
Ensembl transcript ID ENST00000377625
Genbank transcript ID N/A
UniProt peptide O60343
alteration type single base exchange
alteration region CDS
DNA changes c.2266G>A
cDNA.2613G>A
g.172035G>A
AA changes V756I Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 756
frameshift no
known variant Reference ID: rs1062087
databasehomozygous (T/T)heterozygousallele carriers
1000G13847972181
ExAC---
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.5620.016
-0.1610
(flanking)-0.2120
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased172046wt: 0.9719 / mu: 0.9722 (marginal change - not scored)wt: CCGCTGGTTGTATTCCTGTCTGGGGAGGATGACCCAGAAAA
mu: CCGCTGGTTATATTCCTGTCTGGGGAGGATGACCCAGAAAA		 gtct|GGGG
distance from splice site 72
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      756LSPTMEEEPLVVFLSGEDDPEKIE
mutated  all conserved    756LSPTMEEEPLVIFLSGEDDPEKI
Ptroglodytes  all conserved  ENSPTRG00000005932  787VASPMNKSPSAMQQQDGLDRNELLPLSPLSPTMEEEPLVIFLSGEDDPEKI
Mmulatta  all conserved  ENSMMUG00000021197  822LSPTMEEEPLVIFLSGEDDPEKI
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000033083  791LSPLSPTMEEEPLIIFLSGDEDTEKV
Ggallus  all conserved  ENSGALG00000016925  759LAPPLEEDPLLLVLQNEDGTDKT
Trubripes  not conserved  ENSTRUG00000011039  756HSRRSVMDPSRHLLPPGEKP---
Drerio  not conserved  ENSDARG00000075156  769RALTQDQGD----QTGPQSPEQS
Dmelanogaster  not conserved  FBgn0261261  847-SKGLDSEVPTEFLSPMRKPAK-
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
672759COMPBIASSer-rich.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3708 / 3708
position (AA) of stopcodon in wt / mu AA sequence 1236 / 1236
position of stopcodon in wt / mu cDNA 4055 / 4055
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 348 / 348
chromosome 13
strand -1
last intron/exon boundary 3822
theoretical NMD boundary in CDS 3424
length of CDS 3708
coding sequence (CDS) position 2266
cDNA position
(for ins/del: last normal base / first normal base)		 2613
gDNA position
(for ins/del: last normal base / first normal base)		 172035
chromosomal position
(for ins/del: last normal base / first normal base)		 75884216
original gDNA sequence snippet TGGAGGAGGAACCGCTGGTTGTATTCCTGTCTGGGGAGGAT
altered gDNA sequence snippet TGGAGGAGGAACCGCTGGTTATATTCCTGTCTGGGGAGGAT
original cDNA sequence snippet TGGAGGAGGAACCGCTGGTTGTATTCCTGTCTGGGGAGGAT
altered cDNA sequence snippet TGGAGGAGGAACCGCTGGTTATATTCCTGTCTGGGGAGGAT
wildtype AA sequence MEPPSCIQDE PFPHPLEPEP GVSAQPGPGK PSDKRFRLWY VGGSCLDHRT TLPMLPWLMA
EIRRRSQKPE AGGCGAPAAR EVILVLSAPF LRCVPAPGAG ASGGTSPSAT QPNPAVFIFE
HKAQHISRFI HNSHDLTYFA YLIKAQPDDP ESQMACHVFR ATDPSQVPDV ISSIRQLSKA
AMKEDAKPSK DNEDAFYNSQ KFEVLYCGKV TVTHKKAPSS LIDDCMEKFS LHEQQRLKIQ
GEQRGPDPGE DLADLEVVVP GSPGDCLPEE ADGTDTHLGL PAGASQPALT SSRVCFPERI
LEDSGFDEQQ EFRSRCSSVT GVQRRVHEGS QKSQPRRRHA SAPSHVQPSD SEKNRTMLFQ
VGRFEINLIS PDTKSVVLEK NFKDISSCSQ GIKHVDHFGF ICRESPEPGL SQYICYVFQC
ASESLVDEVM LTLKQAFSTA AALQSAKTQI KLCEACPMHS LHKLCERIEG LYPPRAKLVI
QRHLSSLTDN EQADIFERVQ KMKPVSDQEE NELVILHLRQ LCEAKQKTHV HIGEGPSTIS
NSTIPENATS SGRFKLDILK NKAKRSLTSS LENIFSRGAN RMRGRLGSVD SFERSNSLAS
EKDYSPGDSP PGTPPASPPS SAWQTFPEED SDSPQFRRRA HTFSHPPSST KRKLNLQDGR
AQGVRSPLLR QSSSEQCSDG EGRKRTSSTC SNESLSVGGT SVTPRRISWR QRIFLRVASP
MNKSPSAMQQ QDGLDRNELL PLSPLSPTME EEPLVVFLSG EDDPEKIEER KKSKELRSLW
RKAIHQQILL LRMEKENQKL EASRDELQSR KVKLDYEEVG ACQKEVLITW DKKLLNCRAK
IRCDMEDIHT LLKEGVPKSR RGEIWQFLAL QYRLRHRLPN KQQPPDISYK ELLKQLTAQQ
HAILVDLGRT FPTHPYFSVQ LGPGQLSLFN LLKAYSLLDK EVGYCQGISF VAGVLLLHMS
EEQAFEMLKF LMYDLGFRKQ YRPDMMSLQI QMYQLSRLLH DYHRDLYNHL EENEISPSLY
AAPWFLTLFA SQFSLGFVAR VFDIIFLQGT EVIFKVALSL LSSQETLIME CESFENIVEF
LKNTLPDMNT SEMEKIITQV FEMDISKQLH AYEVEYHVLQ DELQESSYSC EDSETLEKLE
RANSQLKRQN MDLLEKLQVA HTKIQALESN LENLLTRETK MKSLIRTLEQ EKMAYQKTVE
QLRKLLPADA LVNCDLLLRD LNCNPNNKAK IGNKP*
mutated AA sequence MEPPSCIQDE PFPHPLEPEP GVSAQPGPGK PSDKRFRLWY VGGSCLDHRT TLPMLPWLMA
EIRRRSQKPE AGGCGAPAAR EVILVLSAPF LRCVPAPGAG ASGGTSPSAT QPNPAVFIFE
HKAQHISRFI HNSHDLTYFA YLIKAQPDDP ESQMACHVFR ATDPSQVPDV ISSIRQLSKA
AMKEDAKPSK DNEDAFYNSQ KFEVLYCGKV TVTHKKAPSS LIDDCMEKFS LHEQQRLKIQ
GEQRGPDPGE DLADLEVVVP GSPGDCLPEE ADGTDTHLGL PAGASQPALT SSRVCFPERI
LEDSGFDEQQ EFRSRCSSVT GVQRRVHEGS QKSQPRRRHA SAPSHVQPSD SEKNRTMLFQ
VGRFEINLIS PDTKSVVLEK NFKDISSCSQ GIKHVDHFGF ICRESPEPGL SQYICYVFQC
ASESLVDEVM LTLKQAFSTA AALQSAKTQI KLCEACPMHS LHKLCERIEG LYPPRAKLVI
QRHLSSLTDN EQADIFERVQ KMKPVSDQEE NELVILHLRQ LCEAKQKTHV HIGEGPSTIS
NSTIPENATS SGRFKLDILK NKAKRSLTSS LENIFSRGAN RMRGRLGSVD SFERSNSLAS
EKDYSPGDSP PGTPPASPPS SAWQTFPEED SDSPQFRRRA HTFSHPPSST KRKLNLQDGR
AQGVRSPLLR QSSSEQCSDG EGRKRTSSTC SNESLSVGGT SVTPRRISWR QRIFLRVASP
MNKSPSAMQQ QDGLDRNELL PLSPLSPTME EEPLVIFLSG EDDPEKIEER KKSKELRSLW
RKAIHQQILL LRMEKENQKL EASRDELQSR KVKLDYEEVG ACQKEVLITW DKKLLNCRAK
IRCDMEDIHT LLKEGVPKSR RGEIWQFLAL QYRLRHRLPN KQQPPDISYK ELLKQLTAQQ
HAILVDLGRT FPTHPYFSVQ LGPGQLSLFN LLKAYSLLDK EVGYCQGISF VAGVLLLHMS
EEQAFEMLKF LMYDLGFRKQ YRPDMMSLQI QMYQLSRLLH DYHRDLYNHL EENEISPSLY
AAPWFLTLFA SQFSLGFVAR VFDIIFLQGT EVIFKVALSL LSSQETLIME CESFENIVEF
LKNTLPDMNT SEMEKIITQV FEMDISKQLH AYEVEYHVLQ DELQESSYSC EDSETLEKLE
RANSQLKRQN MDLLEKLQVA HTKIQALESN LENLLTRETK MKSLIRTLEQ EKMAYQKTVE
QLRKLLPADA LVNCDLLLRD LNCNPNNKAK IGNKP*
speed 0.52 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