Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 2.33585551459644e-09 (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
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr8:121061879G>AN/A show variant in all transcripts   IGV
HGNC symbol DEPTOR
Ensembl transcript ID ENST00000523492
Genbank transcript ID N/A
UniProt peptide Q8TB45
alteration type single base exchange
alteration region CDS
DNA changes c.863G>A
cDNA.993G>A
g.175923G>A
AA changes S288N Score: 46 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 288
frameshift no
known variant Reference ID: rs4871827
databasehomozygous (A/A)heterozygousallele carriers
1000G3198621181
ExAC70881859125679
regulatory features H3K27ac, Histone, Histone 3 Lysine 27 Acetylation
H4K5ac, Histone, Histone 4 Lysine 5 Acetylation
phyloP / phastCons
PhyloPPhastCons
(flanking)5.1621
6.2531
(flanking)2.6051
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased175926wt: 0.23 / mu: 0.26wt: GAGCAATCTGATTCT
mu: GAACAATCTGATTCT		 GCAA|tctg
Donor gained1759180.97mu: CGGACCGTGAACAAT GACC|gtga
distance from splice site 65
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      288LNVLHVDYRTVSNLILTGPRTIVM
mutated  all conserved    288LNVLHVDYRTVNNLILTGPRTIV
Ptroglodytes  all identical  ENSPTRG00000020537  389LNVLHVDYRTVSNLILTGPRTIV
Mmulatta  all identical  ENSMMUG00000002594  389LNVLHVDYRTVSNLILTGPRTIV
Fcatus  all identical  ENSFCAG00000010947  391LNVLHVDYRTVSNLILTGPRTIV
Mmusculus  all identical  ENSMUSG00000022419  389LNVLNVDYRTVSNLILTGPRTIV
Ggallus  all identical  ENSGALG00000016413  360LNVLHVDYRTVSNLILTGPRTIV
Trubripes  all identical  ENSTRUG00000012469  393LNVLSQDYRTVSNLILTGPRTIV
Drerio  all identical  ENSDARG00000040930  387LNVLNQDYRTVSSIILTGPRTVV
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000005764  349LSVLHCDFRTVSNLILTGPRTIV
protein features
start (aa)end (aa)featuredetails 
235299COMPBIASSer-rich.lost
287287MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
293293MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
297297MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
298298MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
299299MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
330407DOMAINPDZ.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 927 / 927
position (AA) of stopcodon in wt / mu AA sequence 309 / 309
position of stopcodon in wt / mu cDNA 1057 / 1057
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 131 / 131
chromosome 8
strand 1
last intron/exon boundary 929
theoretical NMD boundary in CDS 748
length of CDS 927
coding sequence (CDS) position 863
cDNA position
(for ins/del: last normal base / first normal base)		 993
gDNA position
(for ins/del: last normal base / first normal base)		 175923
chromosomal position
(for ins/del: last normal base / first normal base)		 121061879
original gDNA sequence snippet TGTAGACTACCGGACCGTGAGCAATCTGATTCTGACGGGCC
altered gDNA sequence snippet TGTAGACTACCGGACCGTGAACAATCTGATTCTGACGGGCC
original cDNA sequence snippet TGTAGACTACCGGACCGTGAGCAATCTGATTCTGACGGGCC
altered cDNA sequence snippet TGTAGACTACCGGACCGTGAACAATCTGATTCTGACGGGCC
wildtype AA sequence MEEGGSTGSA GSDSSTSGSG GAQQRELERM AEVLVTGEQL RLMSPENTLL QPREEEGVKY
ERTFMASEFL DWLVQEGEAT TRKEAEQLCH RLMEHGIIQH VSNKHPFVDS NLLYQFRMNF
RRRRRLMELL NEKSPSSQET HDSPFCLRKQ SHDNRKSTSF MSVSPSKEIK IVSAVRRSSM
SSCGSSGYFS SSPTLSSSPP VLCNPKSVLK RPVTSEELLT PGAPYARKTF TIVGDAVGWG
FVVRGSKPCH IQAVDPSGPA AAAGMKVCQF VVSVNGLNVL HVDYRTVSNL ILTGPRTIVM
EVMEELEC*
mutated AA sequence MEEGGSTGSA GSDSSTSGSG GAQQRELERM AEVLVTGEQL RLMSPENTLL QPREEEGVKY
ERTFMASEFL DWLVQEGEAT TRKEAEQLCH RLMEHGIIQH VSNKHPFVDS NLLYQFRMNF
RRRRRLMELL NEKSPSSQET HDSPFCLRKQ SHDNRKSTSF MSVSPSKEIK IVSAVRRSSM
SSCGSSGYFS SSPTLSSSPP VLCNPKSVLK RPVTSEELLT PGAPYARKTF TIVGDAVGWG
FVVRGSKPCH IQAVDPSGPA AAAGMKVCQF VVSVNGLNVL HVDYRTVNNL ILTGPRTIVM
EVMEELEC*
speed 1.45 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