Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999533 (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) chr10:115922774G>AN/A show variant in all transcripts   IGV
HGNC symbol CCDC186
Ensembl transcript ID ENST00000369285
Genbank transcript ID N/A
UniProt peptide Q7Z3E2
alteration type single base exchange
alteration region CDS
DNA changes c.254C>T
cDNA.628C>T
g.11206C>T
AA changes T85I Score: 89 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 85
frameshift no
known variant Reference ID: rs1061159
databasehomozygous (A/A)heterozygousallele carriers
1000G157724881
ExAC28531926222115
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me1, Histone, Histone 3 Lysine 9 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.0630
-1.6870
(flanking)0.0540.022
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased11199wt: 0.46 / mu: 0.76wt: CCAAAACAGACACAG
mu: CCAAAACAGACATAG		 AAAA|caga
Donor gained112020.38mu: AAACAGACATAGGCT ACAG|acat
distance from splice site 315
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      85GGGEDSCAKTDTGSENSEQIANFP
mutated  not conserved    85GGGEDSCAKTDIGSENSEQIANF
Ptroglodytes  not conserved  ENSPTRG00000002957  85GGGEDSCAKTDIGSENSEQIANF
Mmulatta  not conserved  ENSMMUG00000022514  85GGGEDSCAKTDIGLENSEQTADF
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000035173  103GSGENSCANTDTCPEDSGQIDDF
Ggallus  all identical  ENSGALG00000008956  93SEGQDCGANTCSERRVEGSMETGCLSKEEFGQD
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000061020  468TDSHKETKDRLKETTAKLTQAKEET
Dmelanogaster  no alignment  FBgn0036614  n/a
Celegans  no alignment  Y49E10.23  n/a
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
201712COILEDPotential.might get lost (downstream of altered splice site)
209209CONFLICTI -> T (in Ref. 2; AAH70368).might get lost (downstream of altered splice site)
614614CONFLICTD -> I (in Ref. 4; BAA91480).might get lost (downstream of altered splice site)
710747COMPBIASSer-rich.might get lost (downstream of altered splice site)
745745CONFLICTG -> E (in Ref. 1; CAD39031).might get lost (downstream of altered splice site)
759803COILEDPotential.might get lost (downstream of altered splice site)
855894COILEDPotential.might get lost (downstream of altered splice site)
857857CONFLICTQ -> L (in Ref. 1; CAD97928).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 636 / 636
position (AA) of stopcodon in wt / mu AA sequence 212 / 212
position of stopcodon in wt / mu cDNA 1010 / 1010
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 375 / 375
chromosome 10
strand -1
last intron/exon boundary 314
theoretical NMD boundary in CDS cannot be calculated, too little distance between start ATG and last intron/exon boundary
length of CDS 636
coding sequence (CDS) position 254
cDNA position
(for ins/del: last normal base / first normal base)		 628
gDNA position
(for ins/del: last normal base / first normal base)		 11206
chromosomal position
(for ins/del: last normal base / first normal base)		 115922774
original gDNA sequence snippet TTCTTGTGCCAAAACAGACACAGGCTCAGAAAATTCTGAAC
altered gDNA sequence snippet TTCTTGTGCCAAAACAGACATAGGCTCAGAAAATTCTGAAC
original cDNA sequence snippet TTCTTGTGCCAAAACAGACACAGGCTCAGAAAATTCTGAAC
altered cDNA sequence snippet TTCTTGTGCCAAAACAGACATAGGCTCAGAAAATTCTGAAC
wildtype AA sequence MSETDHIAST SSDKNVGKTP ELKEDSCNLF SGNESSKLEN ESKLLSLNTD KTLCQPNEHN
NRIEAQENYI PDHGGGEDSC AKTDTGSENS EQIANFPSGN FAKHISKTNE TEQKVTQILV
ELRSSTFPES ANEKTYSESP YDTDCTKKFI SKIKSVSASE DLLEEIESEL LSTEFAEHRV
PNGMNKGEHA LVLFEKCVQD KYLQQEHIIK K*
mutated AA sequence MSETDHIAST SSDKNVGKTP ELKEDSCNLF SGNESSKLEN ESKLLSLNTD KTLCQPNEHN
NRIEAQENYI PDHGGGEDSC AKTDIGSENS EQIANFPSGN FAKHISKTNE TEQKVTQILV
ELRSSTFPES ANEKTYSESP YDTDCTKKFI SKIKSVSASE DLLEEIESEL LSTEFAEHRV
PNGMNKGEHA LVLFEKCVQD KYLQQEHIIK K*
speed 0.61 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