Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999995 (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) chr9:131565554T>CN/A show variant in all transcripts   IGV
HGNC symbol TBC1D13
Ensembl transcript ID ENST00000539497
Genbank transcript ID N/A
UniProt peptide Q9NVG8
alteration type single base exchange
alteration region CDS
DNA changes c.26T>C
cDNA.330T>C
g.16072T>C
AA changes V9A Score: 64 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 9
frameshift no
known variant Reference ID: rs1572912
databasehomozygous (C/C)heterozygousallele carriers
1000G8248721696
ExAC88731502123894
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.8190
0.4390
(flanking)-1.3370
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 26
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      9 MSSPHKNSVPSSLNEYEVLPN
mutated  not conserved    9 MSSPHKNSAPSSLNEYEVLPNG
Ptroglodytes  not conserved  ENSPTRG00000021440  190 MSSPHKNSAPSSLNEYEVLPNG
Mmulatta  all identical  ENSMMUG00000019179  190 MSSPQKNSVPSSLNEYEVLPNG
Fcatus  not conserved  ENSFCAG00000005857  190 MCSPHKNSTPSSLNEYEVLPNG
Mmusculus  not conserved  ENSMUSG00000039678  190 MSSPHKNSAPSALNEYEVLPNG
Ggallus  not conserved  ENSGALG00000004645  190 VSSPLKSS-PSSLSEYEVLPNG
Trubripes  not conserved  ENSTRUG00000012856  190 VSSPGKALNLYPS--NEYEVMPSG
Drerio  no alignment  ENSDARG00000078274  n/a
Dmelanogaster  no alignment  FBgn0035916  n/a
Celegans  all conserved  F45E6.3  223 NLMPNILNQFII----
Xtropicalis  not conserved  ENSXETG00000032711  190 VSSPLKSSASNSLGDYNPLPNG
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 660 / 660
position (AA) of stopcodon in wt / mu AA sequence 220 / 220
position of stopcodon in wt / mu cDNA 964 / 964
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 305 / 305
chromosome 9
strand 1
last intron/exon boundary 899
theoretical NMD boundary in CDS 544
length of CDS 660
coding sequence (CDS) position 26
cDNA position
(for ins/del: last normal base / first normal base)		 330
gDNA position
(for ins/del: last normal base / first normal base)		 16072
chromosomal position
(for ins/del: last normal base / first normal base)		 131565554
original gDNA sequence snippet CTCCCCACACAAGAACTCTGTGCCATCATCCCTAAATGAGT
altered gDNA sequence snippet CTCCCCACACAAGAACTCTGCGCCATCATCCCTAAATGAGT
original cDNA sequence snippet CTCCCCACACAAGAACTCTGTGCCATCATCCCTAAATGAGT
altered cDNA sequence snippet CTCCCCACACAAGAACTCTGCGCCATCATCCCTAAATGAGT
wildtype AA sequence MSSPHKNSVP SSLNEYEVLP NGCEAHWEVV ERILFIYAKL NPGIAYVQGM NEIVGPLYYT
FATDPNSEWK EHAEADTFFC FTNLMAEIRD NFIKSLDDSQ CGITYKMEKV YSTLKDKDVE
LYLKLQEQNI KPQFFAFRWL TLLLSQEFLL PDVIRIWDSL FADDNRFDFL LLVCCAMLML
IREQLLEGDF TVNMRLLQDY PITDVCQILQ KAKELQDSK*
mutated AA sequence MSSPHKNSAP SSLNEYEVLP NGCEAHWEVV ERILFIYAKL NPGIAYVQGM NEIVGPLYYT
FATDPNSEWK EHAEADTFFC FTNLMAEIRD NFIKSLDDSQ CGITYKMEKV YSTLKDKDVE
LYLKLQEQNI KPQFFAFRWL TLLLSQEFLL PDVIRIWDSL FADDNRFDFL LLVCCAMLML
IREQLLEGDF TVNMRLLQDY PITDVCQILQ KAKELQDSK*
speed 0.73 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