Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999972964318855      (explain)
Summary
  • amino acid sequence changed
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr17:34588288A>TN/A show variant in all transcripts   IGV
HGNC symbol TBC1D3C
Ensembl transcript ID ENST00000308078
Genbank transcript ID NM_001123391
UniProt peptide Q6IPX1
alteration type single base exchange
alteration region CDS
DNA changes c.240T>A
cDNA.397T>A
g.168763T>A
AA changes D80E Score: 45 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 80
frameshift no
known variant Reference ID: rs370874761
Allele 'T' was neither found in ExAC nor 1000G.
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)2.2821
0.5781
(flanking)2.2821
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased168767wt: 0.23 / mu: 0.37wt: ATATGCTGGGAGACT
mu: AAATGCTGGGAGACT		 ATGC|tggg
distance from splice site 40
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      80RREISRKSKWVDMLGDWEKYKSSR
mutated  all conserved    80RREISRKSKWVEMLGDWEKYKSS
Ptroglodytes  all identical  ENSPTRG00000008885  80QREISRKSKWVDMLGDWEKYKSS
Mmulatta  all conserved  ENSMMUG00000018593  78RREITRKSKWMEMLRQWETYKNS
Fcatus  no homologue    
Mmusculus  no homologue    
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000011088  78IERVQKWLKMLKNWSKYRNS
Dmelanogaster  not conserved  FBgn0020620  84EMERDKKWMKMLNQWPPPQD-
Celegans  not conserved  Y46G5A.1  559KELSREKKWLKMIEVWKSGGPS
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
101293DOMAINRab-GAP TBC.might get lost (downstream of altered splice site)
248248CONFLICTS -> P (in Ref. 2; AAH71680).might get lost (downstream of altered splice site)
396396CONFLICTW -> R (in Ref. 2; AAH71680).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 1807 / 1807
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 158 / 158
chromosome 17
strand -1
last intron/exon boundary 1239
theoretical NMD boundary in CDS 1031
length of CDS 1650
coding sequence (CDS) position 240
cDNA position
(for ins/del: last normal base / first normal base)		 397
gDNA position
(for ins/del: last normal base / first normal base)		 168763
chromosomal position
(for ins/del: last normal base / first normal base)		 34588288
original gDNA sequence snippet CGAAAGAGCAAGTGGGTGGATATGCTGGGAGACTGGGAGAA
altered gDNA sequence snippet CGAAAGAGCAAGTGGGTGGAAATGCTGGGAGACTGGGAGAA
original cDNA sequence snippet CGAAAGAGCAAGTGGGTGGATATGCTGGGAGACTGGGAGAA
altered cDNA sequence snippet CGAAAGAGCAAGTGGGTGGAAATGCTGGGAGACTGGGAGAA
wildtype 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
HVVATSQSKT MGHQDKKDLC GQCSPLGCLI RILIDGISLG LTLRLWDVYL VEGEQALMPI
TRIAFKVQQK RLTKTSRCGP WARFCNRFVD TWARDEDTVL KHLRASMKKL TRKQGDLPPP
AKPEQGSSAS RPVPASRGGK TLCKGDRQAP PGPPAWFPRP 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 EISRKSKWVE MLGDWEKYKS SRKLIDRAYK GMPMNIRGPM WSVLLNIEEM
KLKNPGRYQI MKEKGKRSSE HIQRIDRDIS GTLRKHMFFR DRYGTKQREL LHILLAYEEY
NPEVGYCRDL SHIAALFLLY LPEEDAFWAL VQLLASERHS LQGFHSPNGG TVQGLQDQQE
HVVATSQSKT MGHQDKKDLC GQCSPLGCLI RILIDGISLG LTLRLWDVYL VEGEQALMPI
TRIAFKVQQK RLTKTSRCGP WARFCNRFVD TWARDEDTVL KHLRASMKKL TRKQGDLPPP
AKPEQGSSAS RPVPASRGGK TLCKGDRQAP PGPPAWFPRP 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