Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 1      (explain)
Summary
  • amino acid sequence changed
  • protein features (might be) affected
  • splice site changes
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analysed issue analysis result
name of alteration no title
alteration (phys. location) chr17:34755224T>CN/A show variant in all transcripts   IGV
HGNC symbol TBC1D3H
Ensembl transcript ID ENST00000455054
Genbank transcript ID NM_001123392
UniProt peptide P0C7X1
alteration type single base exchange
alteration region CDS
DNA changes c.80A>G
cDNA.226A>G
g.52838A>G
AA changes Q27R Score: 43 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 27
frameshift no
known variant
databasehomozygous (C/C)heterozygousallele carriers
1000G---
ExAC011
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.3570.002
-1.5280.007
(flanking)0.5360.015
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased52830wt: 0.50 / mu: 0.67wt: AAGGCTCCCTCTGGGCTACAGGGACACCAAGCTGGGCTGCC
mu: AAGGCTCCCTCTGGGCTACAGGGACACCGAGCTGGGCTGCC		 acag|GGAC
Donor marginally increased52829wt: 0.9198 / mu: 0.9388 (marginal change - not scored)wt: GCTACAGGGACACCA
mu: GCTACAGGGACACCG		 TACA|ggga
distance from splice site 8
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      27EDIIMKYEKGHQAGLPEDKGPKPF
mutated  all conserved    27EDIIMKYEKGHRAGLPEDKGPKP
Ptroglodytes  all conserved  ENSPTRG00000008885  27EDIIMKYEKGHRAGLPEDKGPKP
Mmulatta  all conserved  ENSMMUG00000018593  27ENIIMNYEKGRRAELPEDMGPEP
Fcatus  no homologue    
Mmusculus  no homologue    
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000011088  25AEIISKYNKGRDAGVEIDPWEDA
Dmelanogaster  not conserved  FBgn0020620  30EDIFRRYELGLDPSNVVDSWENP
Celegans  not conserved  Y46G5A.1  503DSIINRYEKGPDAA-DVDAWENP
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
101293DOMAINRab-GAP TBC.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1650 / 1650
position (AA) of stopcodon in wt / mu AA sequence 550 / 550
position of stopcodon in wt / mu cDNA 1796 / 1796
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 147 / 147
chromosome 17
strand -1
last intron/exon boundary 1228
theoretical NMD boundary in CDS 1031
length of CDS 1650
coding sequence (CDS) position 80
cDNA position
(for ins/del: last normal base / first normal base)		 226
gDNA position
(for ins/del: last normal base / first normal base)		 52838
chromosomal position
(for ins/del: last normal base / first normal base)		 34755224
original gDNA sequence snippet CTCTGGGCTACAGGGACACCAAGCTGGGCTGCCAGAGGACA
altered gDNA sequence snippet CTCTGGGCTACAGGGACACCGAGCTGGGCTGCCAGAGGACA
original cDNA sequence snippet GAAATACGAAAAGGGACACCAAGCTGGGCTGCCAGAGGACA
altered cDNA sequence snippet GAAATACGAAAAGGGACACCGAGCTGGGCTGCCAGAGGACA
wildtype AA sequence MDVVEVAGSW WAQEREDIIM KYEKGHQAGL PEDKGPKPFR SYNNNVDHLG IVHETELPPL
TAREAKQIRR EISRKSKWVD MLGDWEKYKS SRKLIDRAYK GMPMNIRGPM WSVLLNIEEM
KLKNPGRYQI MKEKGKRSSE HIQRIDRDIS GTLRKHMFFR DRYGTKQREL LHILLAYEEY
NPEVGYCRDL SHIAALFLLY LPEEDAFWAL VQLLASERHS LQGFHSPNGG TVQGLQDQQE
HVVATSQPKT MGHQDKKDLC GQCSPLGCLI RILIDGISLG LTLRLWDVYL VEGEQALMPI
TRIAFKVQQK RLTKTSRCGP WARFCNRFVD TWARDEDTVL KHLRASMKKL TRKQGDLPPP
AKPEQGSSAS RPVPASRGGK TLCKGDRQAP PGPPARFPRP IWSASPPRAP RSSTPCPGGA
VREDTYPVGT QGVPSPALAQ GGPQGSWRFL QWNSMPRLPT DLDVEGPWFR HYDFRQSCWV
RAISQEDQLA PCWQAEHPAE RVRSAFAAPS TDSDQGTPFR ARDEQQCAPT SGPCLCGLHL
ESSQFPPGF*
mutated AA sequence MDVVEVAGSW WAQEREDIIM KYEKGHRAGL PEDKGPKPFR SYNNNVDHLG IVHETELPPL
TAREAKQIRR EISRKSKWVD MLGDWEKYKS SRKLIDRAYK GMPMNIRGPM WSVLLNIEEM
KLKNPGRYQI MKEKGKRSSE HIQRIDRDIS GTLRKHMFFR DRYGTKQREL LHILLAYEEY
NPEVGYCRDL SHIAALFLLY LPEEDAFWAL VQLLASERHS LQGFHSPNGG TVQGLQDQQE
HVVATSQPKT MGHQDKKDLC GQCSPLGCLI RILIDGISLG LTLRLWDVYL VEGEQALMPI
TRIAFKVQQK RLTKTSRCGP WARFCNRFVD TWARDEDTVL KHLRASMKKL TRKQGDLPPP
AKPEQGSSAS RPVPASRGGK TLCKGDRQAP PGPPARFPRP IWSASPPRAP RSSTPCPGGA
VREDTYPVGT QGVPSPALAQ GGPQGSWRFL QWNSMPRLPT DLDVEGPWFR HYDFRQSCWV
RAISQEDQLA PCWQAEHPAE RVRSAFAAPS TDSDQGTPFR ARDEQQCAPT SGPCLCGLHL
ESSQFPPGF*
speed 0.96 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