Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999963880131 (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) chr3:9871030T>GN/A show variant in all transcripts   IGV
HGNC symbol TTLL3
Ensembl transcript ID ENST00000547186
Genbank transcript ID N/A
UniProt peptide Q9Y4R7
alteration type single base exchange
alteration region CDS
DNA changes c.1505T>G
cDNA.1721T>G
g.21261T>G
AA changes M502R Score: 91 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 502
frameshift no
known variant Reference ID: rs2290305
databasehomozygous (G/G)heterozygousallele carriers
1000G67610611737
ExAC23140-135139627
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.4510.44
1.6980.425
(flanking)0.3550.16
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased21254wt: 0.32 / mu: 0.41wt: ACACCCTGCGCGTGGTCATTGACCGGATGCTGGACCGCAAC
mu: ACACCCTGCGCGTGGTCATTGACCGGAGGCTGGACCGCAAC		 attg|ACCG
Donor gained212550.97mu: CATTGACCGGAGGCT TTGA|ccgg
distance from splice site 50
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      502QADTLRVVIDRMLDRNCDTGAFEL
mutated  not conserved    502QADTLRVVIDRRLDRNCDTGAFE
Ptroglodytes  not conserved  ENSPTRG00000034246  502QADTLRVVIDRRLDRNCDTGAFE
Mmulatta  not conserved  ENSMMUG00000004539  502QADTLRVVIDRRLDHNCDTGAFE
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000030276  696LRVVIDRRLDRSCDTGAFE
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000053728  576QEDTLRVVLDRRSERNTDTG
Dmelanogaster  not conserved  FBgn0031854  637LEDVVKVVIDRRTDPKAELG
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000023542  551TLRIVLDRKLDRNCDIGAFE
protein features
start (aa)end (aa)featuredetails 
151510DOMAINTTL.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2319 / 2319
position (AA) of stopcodon in wt / mu AA sequence 773 / 773
position of stopcodon in wt / mu cDNA 2535 / 2535
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 217 / 217
chromosome 3
strand 1
last intron/exon boundary 2140
theoretical NMD boundary in CDS 1873
length of CDS 2319
coding sequence (CDS) position 1505
cDNA position
(for ins/del: last normal base / first normal base)		 1721
gDNA position
(for ins/del: last normal base / first normal base)		 21261
chromosomal position
(for ins/del: last normal base / first normal base)		 9871030
original gDNA sequence snippet GCGCGTGGTCATTGACCGGATGCTGGACCGCAACTGTGACA
altered gDNA sequence snippet GCGCGTGGTCATTGACCGGAGGCTGGACCGCAACTGTGACA
original cDNA sequence snippet GCGCGTGGTCATTGACCGGATGCTGGACCGCAACTGTGACA
altered cDNA sequence snippet GCGCGTGGTCATTGACCGGAGGCTGGACCGCAACTGTGACA
wildtype AA sequence MNRLRNAKIY VERAVKQKKI FTIQGCYPVI RCLLRRRGWV EKKMVHRSGP TLLPPQKDLD
SSAMGDSDTT EDEDEDEDEE FQPSQLFDFD DLLKFDDLDG THALMVGLCL NLRNLPWFDE
VDANSFFPRC YCLGAEDDKK AFIEDFWLTA ARNVLKLVVK SEWKSYPIQA VEEEASGDKQ
PKKQEKNPVL VSPEFVDEAL CACEEYLSNL AHMDIDKDLE APLYLTPEGW SLFLQRYYQV
VHEGAELRHL DTQVQRCEDI LQQLQAVVPQ IDMEGDRNIW IVKPGAKSRG RGIMCMDHLE
EMLKLVNGNP VVMKDGKWVV QKYIERPLLI FGTKFDLRQW FLVTDWNPLT VWFYRDSYIR
FSTQPFSLKN LDNSVHLCNN SIQKHLENSC HRHPLLPPDN MWSSQRFQAH LQEMGAPNAW
STIIVPGMKD AVIHALQTSQ DTVQCRKASF ELYGADFVFG EDFQPWLIEI NASPTMAPST
AVTARLCAGV QADTLRVVID RMLDRNCDTG AFELIYKQPA VEVPQYVGIR LLVEGFTIKK
PMAMCHRRMG VRPAVPLLTQ RGSGEARHHF PSLHTKAQLP SPHVLRHQGQ VLRRQHSKLV
GTKALSTTGK ALRTLPTAKV FISLPPNLDF KVAPSILKPR KAPALLCLRG PQLEVPCCLC
PLKSEQFLAP VGRSRPKANS RPDCDKPRAE ACPMKRLSPL KPLPLVGTFQ RRRGLGDMKL
GKPLLRFPTA LVLDPTPNKK KQVKYLGLDS IAVGGSRVDG ARPCTPGSTA RA*
mutated AA sequence MNRLRNAKIY VERAVKQKKI FTIQGCYPVI RCLLRRRGWV EKKMVHRSGP TLLPPQKDLD
SSAMGDSDTT EDEDEDEDEE FQPSQLFDFD DLLKFDDLDG THALMVGLCL NLRNLPWFDE
VDANSFFPRC YCLGAEDDKK AFIEDFWLTA ARNVLKLVVK SEWKSYPIQA VEEEASGDKQ
PKKQEKNPVL VSPEFVDEAL CACEEYLSNL AHMDIDKDLE APLYLTPEGW SLFLQRYYQV
VHEGAELRHL DTQVQRCEDI LQQLQAVVPQ IDMEGDRNIW IVKPGAKSRG RGIMCMDHLE
EMLKLVNGNP VVMKDGKWVV QKYIERPLLI FGTKFDLRQW FLVTDWNPLT VWFYRDSYIR
FSTQPFSLKN LDNSVHLCNN SIQKHLENSC HRHPLLPPDN MWSSQRFQAH LQEMGAPNAW
STIIVPGMKD AVIHALQTSQ DTVQCRKASF ELYGADFVFG EDFQPWLIEI NASPTMAPST
AVTARLCAGV QADTLRVVID RRLDRNCDTG AFELIYKQPA VEVPQYVGIR LLVEGFTIKK
PMAMCHRRMG VRPAVPLLTQ RGSGEARHHF PSLHTKAQLP SPHVLRHQGQ VLRRQHSKLV
GTKALSTTGK ALRTLPTAKV FISLPPNLDF KVAPSILKPR KAPALLCLRG PQLEVPCCLC
PLKSEQFLAP VGRSRPKANS RPDCDKPRAE ACPMKRLSPL KPLPLVGTFQ RRRGLGDMKL
GKPLLRFPTA LVLDPTPNKK KQVKYLGLDS IAVGGSRVDG ARPCTPGSTA RA*
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