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 ENST00000542237
Genbank transcript ID N/A
UniProt peptide Q8NHQ1
alteration type single base exchange
alteration region CDS
DNA changes c.344G>A
cDNA.489G>A
g.24160G>A
AA changes S115N Score: 46 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 115
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      115SKIGELEDESLSRACHQQNKIKDL
mutated  all conserved    115SKIGELEDESLNRACHQ
Ptroglodytes  all conserved  ENSPTRG00000015448  135SKIGELEDESLNRACHQQN
Mmulatta  all conserved  ENSMMUG00000007760  135SKIGELEDESLNRACQQQN
Fcatus  not conserved  ENSFCAG00000013006  226EVENKE------KDSNIPN
Mmusculus  all conserved  ENSMUSG00000056267  156SKIGELEDESLNRVCQQQN
Ggallus  all conserved  ENSGALG00000012087  127SKIRQLEDETIAKVCR
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000076965  118VKVQDLEDSYISKA
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 1734 / 1734
position (AA) of stopcodon in wt / mu AA sequence 578 / 578
position of stopcodon in wt / mu cDNA 1879 / 1879
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 146 / 146
chromosome 3
strand -1
last intron/exon boundary 1818
theoretical NMD boundary in CDS 1622
length of CDS 1734
coding sequence (CDS) position 344
cDNA position
(for ins/del: last normal base / first normal base)		 489
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 MTEQEEAEWE SINVLLMMHG LKPLSLVKRT DLKDLIIFDK QSSQRMRQNL KLLVEETSCQ
QNMIQELIET NQQLRNELQL EQSRAANQEQ RANDLEQIME SVKSKIGELE DESLSRACHQ
QNKIKDLQKE QKTLQVKCQH YKKKRTEQEE TIASLQMEVC RLKKEEEDRI VTQNRVFAYL
CKRVPHTVLD RQLLCLIDYY ESKIRKIHTQ RQYKEDESQS EEENDYRNLD ASPTYKGLLM
SLQNQLKESK SKIDALSSEK LNLQKDLETR PTQHELRLYK QQVKKLEKAL KKNVKLQELI
NHKKAEDTEK KDEPSKYNQQ QALIDQRYFQ VLCSINSIIH NPRAPVIIYK QTKGGVQNFN
KDLVQDCGFE HLVPVIEMWA DQLTSLKDLY KSLKTLSAEL VPWLNLKKQD ENEGIKVEDL
LFIVDTMLEE VENKEKDSNM PHFQTLQAIV SHFQKLFDVP SLNGVYPRMN EVYTRLGEMN
NAVRNLQELL ELDSSSSLCV LVSTVGKLCR LINEDVNEQV MQVLGPEDLQ SIIYKLEEHE
EFFPAFQAFT NDLLEILEID DLDAIVPAVK KLKVLSY*
mutated AA sequence MTEQEEAEWE SINVLLMMHG LKPLSLVKRT DLKDLIIFDK QSSQRMRQNL KLLVEETSCQ
QNMIQELIET NQQLRNELQL EQSRAANQEQ RANDLEQIME SVKSKIGELE DESLNRACHQ
QNKIKDLQKE QKTLQVKCQH YKKKRTEQEE TIASLQMEVC RLKKEEEDRI VTQNRVFAYL
CKRVPHTVLD RQLLCLIDYY ESKIRKIHTQ RQYKEDESQS EEENDYRNLD ASPTYKGLLM
SLQNQLKESK SKIDALSSEK LNLQKDLETR PTQHELRLYK QQVKKLEKAL KKNVKLQELI
NHKKAEDTEK KDEPSKYNQQ QALIDQRYFQ VLCSINSIIH NPRAPVIIYK QTKGGVQNFN
KDLVQDCGFE HLVPVIEMWA DQLTSLKDLY KSLKTLSAEL VPWLNLKKQD ENEGIKVEDL
LFIVDTMLEE VENKEKDSNM PHFQTLQAIV SHFQKLFDVP SLNGVYPRMN EVYTRLGEMN
NAVRNLQELL ELDSSSSLCV LVSTVGKLCR LINEDVNEQV MQVLGPEDLQ SIIYKLEEHE
EFFPAFQAFT NDLLEILEID DLDAIVPAVK KLKVLSY*
speed 1.08 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