Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999990684464 (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) chr3:138289221C>TN/A show variant in all transcripts   IGV
HGNC symbol CEP70
Ensembl transcript ID ENST00000474781
Genbank transcript ID N/A
UniProt peptide Q8NHQ1
alteration type single base exchange
alteration region CDS
DNA changes c.350G>A
cDNA.636G>A
g.24160G>A
AA changes S117N Score: 46 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 117
frameshift no
known variant Reference ID: rs1673607
databasehomozygous (T/T)heterozygousallele carriers
1000G---
ExAC24594-164218173
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.2590.765
-0.2340.679
(flanking)0.6090.69
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained241550.54mu: GAATCACTAAATAGG ATCA|ctaa
distance from splice site 62
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      117SKIGELEDESLSRACHQQNKIKDL
mutated  all conserved    117SKIGELEDESLNRAC
Ptroglodytes  all conserved  ENSPTRG00000015448  135SKIGELEDESLNRAC
Mmulatta  all conserved  ENSMMUG00000007760  135SKIGELEDESLNRAC
Fcatus  not conserved  ENSFCAG00000013006  226EVENKE------KDSNIPN
Mmusculus  all conserved  ENSMUSG00000056267  156SKIGELEDESLNRVC
Ggallus  all conserved  ENSGALG00000012087  127SKIRQLEDETIAKVCRQQNQVQD
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000076965  118VKVQDLEDSYISKAA
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
75179COILEDPotential.lost
254326COILEDPotential.might get lost (downstream of altered splice site)
293293CONFLICTQ -> L (in Ref. 2; BAH12924).might get lost (downstream of altered splice site)
371371CONFLICTQ -> R (in Ref. 2; BAB14403).might get lost (downstream of altered splice site)
385385CONFLICTQ -> R (in Ref. 2; BAH13584).might get lost (downstream of altered splice site)
393393CONFLICTV -> A (in Ref. 2; BAH13584).might get lost (downstream of altered splice site)
471471CONFLICTS -> P (in Ref. 1; AAG35616/AAG35791).might get lost (downstream of altered splice site)
478478CONFLICTD -> G (in Ref. 1; AAG35616/AAG35791).might get lost (downstream of altered splice site)
483516REPEATTPR.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1740 / 1740
position (AA) of stopcodon in wt / mu AA sequence 580 / 580
position of stopcodon in wt / mu cDNA 2026 / 2026
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 287 / 287
chromosome 3
strand -1
last intron/exon boundary 1965
theoretical NMD boundary in CDS 1628
length of CDS 1740
coding sequence (CDS) position 350
cDNA position
(for ins/del: last normal base / first normal base)		 636
gDNA position
(for ins/del: last normal base / first normal base)		 24160
chromosomal position
(for ins/del: last normal base / first normal base)		 138289221
original gDNA sequence snippet ATTGGAGGATGAATCACTAAGTAGGGCTTGCCACCAACAGA
altered gDNA sequence snippet ATTGGAGGATGAATCACTAAATAGGGCTTGCCACCAACAGA
original cDNA sequence snippet ATTGGAGGATGAATCACTAAGTAGGGCTTGCCACCAACAGA
altered cDNA sequence snippet ATTGGAGGATGAATCACTAAATAGGGCTTGCCACCAACAGA
wildtype AA sequence MTEKQQEEAE WESINVLLMM HGLKPLSLVK RTDLKDLIIF DKQSSQRMRQ NLKLLVEETS
CQQNMIQELI ETNQQLRNEL QLEQSRAANQ EQRANDLEQI MESVKSKIGE LEDESLSRAC
HQQNKIKDLQ KEQKTLQVKC QHYKKKRTEQ EETIASLQME VCRLKKEEED RIVTQNRVFA
YLCKRVPHTV LDRQLLCLID YYESKIRKIH TQRQYKEDES QSEEENDYRN LDASPTYKGL
LMSLQNQLKE SKSKIDALSS EKLNLQKDLE TRPTQHELRL YKQQVKKLEK ALKKNVKLQE
LINHKKAEDT EKKDEPSKYN QQQALIDQRY FQVLCSINSI IHNPRAPVII YKQTKGGVQN
FNKDLVQDCG FEHLVPVIEM WADQLTSLKD LYKSLKTLSA ELVPWLNLKK QDENEGIKVE
DLLFIVDTML EEVENKEKDS NMPHFQTLQA IVSHFQKLFD VPSLNGVYPR MNEVYTRLGE
MNNAVRNLQE LLELDSSSSL CVLVSTVGKL CRLINEDVNE QVMQVLGPED LQSIIYKLEE
HEEFFPAFQA FTNDLLEILE IDDLDAIVPA VKKLKVLSY*
mutated AA sequence MTEKQQEEAE WESINVLLMM HGLKPLSLVK RTDLKDLIIF DKQSSQRMRQ NLKLLVEETS
CQQNMIQELI ETNQQLRNEL QLEQSRAANQ EQRANDLEQI MESVKSKIGE LEDESLNRAC
HQQNKIKDLQ KEQKTLQVKC QHYKKKRTEQ EETIASLQME VCRLKKEEED RIVTQNRVFA
YLCKRVPHTV LDRQLLCLID YYESKIRKIH TQRQYKEDES QSEEENDYRN LDASPTYKGL
LMSLQNQLKE SKSKIDALSS EKLNLQKDLE TRPTQHELRL YKQQVKKLEK ALKKNVKLQE
LINHKKAEDT EKKDEPSKYN QQQALIDQRY FQVLCSINSI IHNPRAPVII YKQTKGGVQN
FNKDLVQDCG FEHLVPVIEM WADQLTSLKD LYKSLKTLSA ELVPWLNLKK QDENEGIKVE
DLLFIVDTML EEVENKEKDS NMPHFQTLQA IVSHFQKLFD VPSLNGVYPR MNEVYTRLGE
MNNAVRNLQE LLELDSSSSL CVLVSTVGKL CRLINEDVNE QVMQVLGPED LQSIIYKLEE
HEEFFPAFQA FTNDLLEILE IDDLDAIVPA VKKLKVLSY*
speed 1.00 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