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
 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 ENST00000425511
Genbank transcript ID N/A
UniProt peptide O60343
alteration type single base exchange
alteration region CDS
DNA changes c.106G>A
cDNA.2802G>A
g.172035G>A
AA changes V36I Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 36
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      36LSPTMEEEPLVVFLSGEDDPEKIE
mutated  all conserved    36LSPTMEEEPLVIFLSGEDDPEKI
Ptroglodytes  all conserved  ENSPTRG00000005932  819LSPTMEEEPLVIFLSGEDDPEKI
Mmulatta  all conserved  ENSMMUG00000021197  822LSPTMEEEPLVIFLSGEDDPEKI
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000033083  826LSPTMEEEPLIIFLSGDEDTEKV
Ggallus  all conserved  ENSGALG00000016925  759LAPPLEEDPLLLVLQNEDGTDKT
Trubripes  not conserved  ENSTRUG00000011039  756HSRRSVMDPSRHLLPPGEKP---
Drerio  not conserved  ENSDARG00000075156  769RALTQDQGDQ----TGPQSPEQS
Dmelanogaster  not conserved  FBgn0261261  835VTPSKGLDSEVPTEFLSPMRKPAK-
Celegans  no homologue    
Xtropicalis  no homologue    
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1389 / 1389
position (AA) of stopcodon in wt / mu AA sequence 463 / 463
position of stopcodon in wt / mu cDNA 4085 / 4085
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 2697 / 2697
chromosome 13
strand -1
last intron/exon boundary 3852
theoretical NMD boundary in CDS 1105
length of CDS 1389
coding sequence (CDS) position 106
cDNA position
(for ins/del: last normal base / first normal base)		 2802
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 MNKSPSAMQQ QDGLDRNELL PLSPLSPTME EEPLVVFLSG EDDPEKIEER KKSKELRSLW
RKAIHQQILL LRMEKENQKL EGVPKSRRGE IWQFLALQYR LRHRLPNKQQ PPDISYKELL
KQLTAQQHAI LVDLGRTFPT HPYFSVQLGP GQLSLFNLLK AYSLLDKEVG YCQGISFVAG
VLLLHMSEEQ AFEMLKFLMY DLGFRKQYRP DMMSLQIQMY QLSRLLHDYH RDLYNHLEEN
EISPSLYAAP WFLTLFASQF SLGFVARVFD IIFLQGTEVI FKVALSLLSS QETLIMECES
FENIVEFLKN TLPDMNTSEM EKIITQVFEM DISKQLHAYE VEYHVLQDEL QESSYSCEDS
ETLEKLERAN SQLKRQNMDL LEKLQVAHTK IQALESNLEN LLTRETKMKS LIRTLEQEKM
AYQKTVEQLR KLLPADALVN CDLLLRDLNC NPNNKAKIGN KP*
mutated AA sequence MNKSPSAMQQ QDGLDRNELL PLSPLSPTME EEPLVIFLSG EDDPEKIEER KKSKELRSLW
RKAIHQQILL LRMEKENQKL EGVPKSRRGE IWQFLALQYR LRHRLPNKQQ PPDISYKELL
KQLTAQQHAI LVDLGRTFPT HPYFSVQLGP GQLSLFNLLK AYSLLDKEVG YCQGISFVAG
VLLLHMSEEQ AFEMLKFLMY DLGFRKQYRP DMMSLQIQMY QLSRLLHDYH RDLYNHLEEN
EISPSLYAAP WFLTLFASQF SLGFVARVFD IIFLQGTEVI FKVALSLLSS QETLIMECES
FENIVEFLKN TLPDMNTSEM EKIITQVFEM DISKQLHAYE VEYHVLQDEL QESSYSCEDS
ETLEKLERAN SQLKRQNMDL LEKLQVAHTK IQALESNLEN LLTRETKMKS LIRTLEQEKM
AYQKTVEQLR KLLPADALVN CDLLLRDLNC NPNNKAKIGN KP*
speed 1.09 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