Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999978248883 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • 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 ENST00000426895
Genbank transcript ID NM_001025930
UniProt peptide Q9Y4R7
alteration type single base exchange
alteration region CDS
DNA changes c.1934T>G
cDNA.1953T>G
g.21261T>G
AA changes M645R Score: 91 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 645
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      645QADTLRVVIDRMLDRNCDTGAFEL
mutated  not conserved    645QADTLRVVIDRRLDRNCDTGAFE
Ptroglodytes  not conserved  ENSPTRG00000034246  502QADTLRVVIDRRLDRNCDTGAFE
Mmulatta  not conserved  ENSMMUG00000004539  502QADTLRVVIDRRLDHNCDTGAFE
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000030276  696QADTLRVVIDRRLDRSCDTGAFE
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000053728  576RVVLDRRSERNTDTGGFQ
Dmelanogaster  not conserved  FBgn0031854  637LEDVVKVVIDRRTDPKAELGNFE
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000023542  551QEDTLRIVLDRKLDRNCDIGAFE
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2748 / 2748
position (AA) of stopcodon in wt / mu AA sequence 916 / 916
position of stopcodon in wt / mu cDNA 2767 / 2767
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 20 / 20
chromosome 3
strand 1
last intron/exon boundary 2372
theoretical NMD boundary in CDS 2302
length of CDS 2748
coding sequence (CDS) position 1934
cDNA position
(for ins/del: last normal base / first normal base)		 1953
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 MQGPDAPLLL SARELGPGRR GSASWYRQEG GAVCNWLRKP QPLEPRTSFP SARRSEFRPP
RRLPWAGPAS AQSEEGHAGG RCQAGSPAPA RRLSGAFKTL VPGTHAQGAS DTHPLGPPHT
PVLDPSPQDG FPVLWRGSSK ASHMNRLRNA KIYVERAVKQ KKIFTIQGCY PVIRCLLRRR
GWVEKKMVHR SGPTLLPPQK DLDSSAMGDS DTTEDEDEDE DEEFQPSQLF DFDDLLKFDD
LDGTHALMVG LCLNLRNLPW FDEVDANSFF PRCYCLGAED DKKAFIEDFW LTAARNVLKL
VVKSEWKSYP IQAVEEEASG DKQPKKQEKN PVLVSPEFVD EALCACEEYL SNLAHMDIDK
DLEAPLYLTP EGWSLFLQRY YQVVHEGAEL RHLDTQVQRC EDILQQLQAV VPQIDMEGDR
NIWIVKPGAK SRGRGIMCMD HLEEMLKLVN GNPVVMKDGK WVVQKYIERP LLIFGTKFDL
RQWFLVTDWN PLTVWFYRDS YIRFSTQPFS LKNLDNSVHL CNNSIQKHLE NSCHRHPLLP
PDNMWSSQRF QAHLQEMGAP NAWSTIIVPG MKDAVIHALQ TSQDTVQCRK ASFELYGADF
VFGEDFQPWL IEINASPTMA PSTAVTARLC AGVQADTLRV VIDRMLDRNC DTGAFELIYK
QPAVEVPQYV GIRLLVEGFT IKKPMAMCHR RMGVRPAVPL LTQRGSGEAR HHFPSLHTKA
QLPSPHVLRH QGQVLRRQHS KLVGTKALST TGKALRTLPT AKVFISLPPN LDFKVAPSIL
KPRKAPALLC LRGPQLEVPC CLCPLKSEQF LAPVGRSRPK ANSRPDCDKP RAEACPMKRL
SPLKPLPLVG TFQRRRGLGD MKLGKPLLRF PTALVLDPTP NKKKQVKYLG LDSIAVGGSR
VDGARPCTPG STARA*
mutated AA sequence MQGPDAPLLL SARELGPGRR GSASWYRQEG GAVCNWLRKP QPLEPRTSFP SARRSEFRPP
RRLPWAGPAS AQSEEGHAGG RCQAGSPAPA RRLSGAFKTL VPGTHAQGAS DTHPLGPPHT
PVLDPSPQDG FPVLWRGSSK ASHMNRLRNA KIYVERAVKQ KKIFTIQGCY PVIRCLLRRR
GWVEKKMVHR SGPTLLPPQK DLDSSAMGDS DTTEDEDEDE DEEFQPSQLF DFDDLLKFDD
LDGTHALMVG LCLNLRNLPW FDEVDANSFF PRCYCLGAED DKKAFIEDFW LTAARNVLKL
VVKSEWKSYP IQAVEEEASG DKQPKKQEKN PVLVSPEFVD EALCACEEYL SNLAHMDIDK
DLEAPLYLTP EGWSLFLQRY YQVVHEGAEL RHLDTQVQRC EDILQQLQAV VPQIDMEGDR
NIWIVKPGAK SRGRGIMCMD HLEEMLKLVN GNPVVMKDGK WVVQKYIERP LLIFGTKFDL
RQWFLVTDWN PLTVWFYRDS YIRFSTQPFS LKNLDNSVHL CNNSIQKHLE NSCHRHPLLP
PDNMWSSQRF QAHLQEMGAP NAWSTIIVPG MKDAVIHALQ TSQDTVQCRK ASFELYGADF
VFGEDFQPWL IEINASPTMA PSTAVTARLC AGVQADTLRV VIDRRLDRNC DTGAFELIYK
QPAVEVPQYV GIRLLVEGFT IKKPMAMCHR RMGVRPAVPL LTQRGSGEAR HHFPSLHTKA
QLPSPHVLRH QGQVLRRQHS KLVGTKALST TGKALRTLPT AKVFISLPPN LDFKVAPSIL
KPRKAPALLC LRGPQLEVPC CLCPLKSEQF LAPVGRSRPK ANSRPDCDKP RAEACPMKRL
SPLKPLPLVG TFQRRRGLGD MKLGKPLLRF PTALVLDPTP NKKKQVKYLG LDSIAVGGSR
VDGARPCTPG STARA*
speed 0.96 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