Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999916 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
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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 ENST00000372648
Genbank transcript ID NM_018201
UniProt peptide Q9NVG8
alteration type single base exchange
alteration region CDS
DNA changes c.569T>C
cDNA.719T>C
g.16072T>C
AA changes V190A Score: 64 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 190
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      190VTNMSSPHKNSVPSSLNEYEVLPN
mutated  not conserved    190NMSSPHKNSAPSSLNEYEVLP
Ptroglodytes  not conserved  ENSPTRG00000021440  190NMSSPHKNSAPSSLNEYEVLP
Mmulatta  all identical  ENSMMUG00000019179  190NMSSPQKNSVPSSLNEYEVLP
Fcatus  not conserved  ENSFCAG00000005857  190NMCSPHKNSTPSSLNEYEVLP
Mmusculus  not conserved  ENSMUSG00000039678  190NMSSPHKNSAPSALNEYEVLP
Ggallus  not conserved  ENSGALG00000004645  190NVSSPLKSS-PSSLSEYEVLP
Trubripes  not conserved  ENSTRUG00000012856  190NVSSPGKALNLYPS--NEYEVMP
Drerio  not conserved  ENSDARG00000078274  90VTNVSALVKYT-HTHTHTHTHTH
Dmelanogaster  all identical  FBgn0035916  200MTKINLITKRSVEN----YAAME
Celegans  not conserved  F45E6.3  184IVGCVKTNIAKQSQDENQAPNSEFHWHQFFEYSYKFSQESLVFRKNCFNLMP
Xtropicalis  not conserved  ENSXETG00000032711  190NVSSPLKSSASNSLGDYNPLP
protein features
start (aa)end (aa)featuredetails 
35345DOMAINRab-GAP TBC.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1203 / 1203
position (AA) of stopcodon in wt / mu AA sequence 401 / 401
position of stopcodon in wt / mu cDNA 1353 / 1353
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 151 / 151
chromosome 9
strand 1
last intron/exon boundary 1288
theoretical NMD boundary in CDS 1087
length of CDS 1203
coding sequence (CDS) position 569
cDNA position
(for ins/del: last normal base / first normal base)		 719
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 MSSLHKSRIA DFQDVLKEPS IALEKLRELS FSGIPCEGGL RCLCWKILLN YLPLERASWT
SILAKQRELY AQFLREMIIQ PGIAKANMGV SREDVTFEDH PLNPNPDSRW NTYFKDNEVL
LQIDKDVRRL CPDISFFQRA TDYPCLLILD PQNEFETLRK RVEQTTLKSQ TVARNRSGVT
NMSSPHKNSV PSSLNEYEVL PNGCEAHWEV VERILFIYAK LNPGIAYVQG MNEIVGPLYY
TFATDPNSEW KEHAEADTFF CFTNLMAEIR DNFIKSLDDS QCGITYKMEK VYSTLKDKDV
ELYLKLQEQN IKPQFFAFRW LTLLLSQEFL LPDVIRIWDS LFADDNRFDF LLLVCCAMLM
LIREQLLEGD FTVNMRLLQD YPITDVCQIL QKAKELQDSK *
mutated AA sequence MSSLHKSRIA DFQDVLKEPS IALEKLRELS FSGIPCEGGL RCLCWKILLN YLPLERASWT
SILAKQRELY AQFLREMIIQ PGIAKANMGV SREDVTFEDH PLNPNPDSRW NTYFKDNEVL
LQIDKDVRRL CPDISFFQRA TDYPCLLILD PQNEFETLRK RVEQTTLKSQ TVARNRSGVT
NMSSPHKNSA PSSLNEYEVL PNGCEAHWEV VERILFIYAK LNPGIAYVQG MNEIVGPLYY
TFATDPNSEW KEHAEADTFF CFTNLMAEIR DNFIKSLDDS QCGITYKMEK VYSTLKDKDV
ELYLKLQEQN IKPQFFAFRW LTLLLSQEFL LPDVIRIWDS LFADDNRFDF LLLVCCAMLM
LIREQLLEGD FTVNMRLLQD YPITDVCQIL QKAKELQDSK *
speed 0.74 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