Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 0.999999883590085      (explain)
Summary
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr17:34755224T>CN/A show variant in all transcripts   IGV
HGNC symbol TBC1D3C
Ensembl transcript ID ENST00000451448
Genbank transcript ID N/A
UniProt peptide Q6IPX1
alteration type single base exchange
alteration region intron
DNA changes g.1827A>G
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
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 increased1819wt: 0.50 / mu: 0.67wt: AAGGCTCCCTCTGGGCTACAGGGACACCAAGCTGGGCTGCC
mu: AAGGCTCCCTCTGGGCTACAGGGACACCGAGCTGGGCTGCC		 acag|GGAC
Donor marginally increased1818wt: 0.9198 / mu: 0.9388 (marginal change - not scored)wt: GCTACAGGGACACCA
mu: GCTACAGGGACACCG		 TACA|ggga
distance from splice site 170
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
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 N/A
AA sequence altered N/A
position of stopcodon in wt / mu CDS N/A
position (AA) of stopcodon in wt / mu AA sequence N/A
position of stopcodon in wt / mu cDNA N/A
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 755 / 755
chromosome 17
strand -1
last intron/exon boundary 1770
theoretical NMD boundary in CDS 965
length of CDS 1584
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 N/A
gDNA position
(for ins/del: last normal base / first normal base)		 1827
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 N/A
altered cDNA sequence snippet N/A
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 MGHQISLGLT LRLWDVYLVE GEQALMPITR IAFKVQQKRL TKTSRCGPWA
RFCNRFVDTW ARDEDTVLKH LRASMKKLTR KQGDLPPPAK PEQGSSASRP VPASRGGKTL
CKGDRQAPPG PPAWFPRPIW SASPPRAPRS STPCPGGAVR EDTYPVGTQG VPSPALAQGG
PQGSWRFLQW NSMPRLPTDL DVEGPWFRHY DFRQSCWVRA ISQEDQLAPC WQAEHPAERV
RSAFAAPSTD SDQGTPFRAR DEQQCAPTSG PCLCGLHLES SQFPPGF*
mutated AA sequence N/A
speed 0.35 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