Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999992 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
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analysed issue analysis result
name of alteration no title
alteration (phys. location) chr11:113194168A>CN/A show variant in all transcripts   IGV
HGNC symbol TTC12
Ensembl transcript ID ENST00000529221
Genbank transcript ID NM_017868
UniProt peptide Q9H892
alteration type single base exchange
alteration region CDS
DNA changes c.217A>C
cDNA.322A>C
g.8918A>C
AA changes M73L Score: 15 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 73
frameshift no
known variant Reference ID: rs723077
databasehomozygous (C/C)heterozygousallele carriers
1000G38510261411
ExAC13485579719282
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.2940
-2.0120
(flanking)-0.0710
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased8911wt: 0.4508 / mu: 0.4660 (marginal change - not scored)wt: ACTATGATCAGTCCTCCACAAACTGCTATGAAGGTTTCTTT
mu: ACTATGATCAGTCCTCCACAAACTGCTCTGAAGGTTTCTTT		 acaa|ACTG
Donor marginally increased8917wt: 0.9360 / mu: 0.9698 (marginal change - not scored)wt: ACTGCTATGAAGGTT
mu: ACTGCTCTGAAGGTT		 TGCT|atga
distance from splice site 6
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      73NKTMISPPQTAMKSAEEINSEAFL
mutated  all conserved    73NKTMISPPQTALKSAEEINSEAF
Ptroglodytes  all identical  ENSPTRG00000004292  73NKTMISPPQTAMKSAEEINSEAF
Mmulatta  all conserved  ENSMMUG00000014328  73NKTVISPPQTAVKSAEEVNSEAF
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000040219  73NKTMISPPQTP-ENADEMSPDAF
Ggallus  not conserved  ENSGALG00000007833  70DRTVINTRDPVRKNSSDALQEGF
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  not conserved  FBgn0039228  97NRKSLEEDNE--KQVKDMNQKSF
Celegans  no homologue    
Xtropicalis  no alignment  ENSXETG00000011664  n/a
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2118 / 2118
position (AA) of stopcodon in wt / mu AA sequence 706 / 706
position of stopcodon in wt / mu cDNA 2223 / 2223
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 106 / 106
chromosome 11
strand 1
last intron/exon boundary 2148
theoretical NMD boundary in CDS 1992
length of CDS 2118
coding sequence (CDS) position 217
cDNA position
(for ins/del: last normal base / first normal base)		 322
gDNA position
(for ins/del: last normal base / first normal base)		 8918
chromosomal position
(for ins/del: last normal base / first normal base)		 113194168
original gDNA sequence snippet TCAGTCCTCCACAAACTGCTATGAAGGTTTCTTTTTCTATT
altered gDNA sequence snippet TCAGTCCTCCACAAACTGCTCTGAAGGTTTCTTTTTCTATT
original cDNA sequence snippet TCAGTCCTCCACAAACTGCTATGAAGAGTGCAGAAGAAATA
altered cDNA sequence snippet TCAGTCCTCCACAAACTGCTCTGAAGAGTGCAGAAGAAATA
wildtype AA sequence MDADKEKDLQ KFLKNVDEIS NLIQEMNSDD PVVQQKAVLE TEKRLLLMEE DQEEDECRTT
LNKTMISPPQ TAMKSAEEIN SEAFLASVEK DAKERAKRRR ENKVLADALK EKGNEAFAEG
NYETAILRYS EGLEKLKDMK VLYTNRAQAY MKLEDYEKAL VDCEWALKCD EKCTKAYFHM
GKANLALKNY SVSRECYKKI LEINPKLQTQ VKGYLNQVDL QEKADLQEKE AHELLDSGKN
TAVTTKNLLE TLSKPDQIPL FYAGGIEILT EMINECTEQT LFRMHNGFSI ISDNEVIRRC
FSTAGNDAVE EMVCVSVLKL WQAVCSRNEE NQRVLVIHHD RARLLAALLS SKVLAIRQQS
FALLLHLAQT ESGRSLIINH LDLTRLLEAL VSFLDFSDKE ANTAMGLFTD LALEERFQVW
FQANLPGVLP ALTGVLKTDP KVSSSSALCQ CIAIMGNLSA EPTTRRHMAA CEEFGDGCLS
LLARCEEDVD LFREVIYTLL GLMMNLCLQA PFVSEVWAVE VSRRCLSLLN SQDGGILTRA
AGVLSRTLSS SLKIVEEALR AGVVKKMMKF LKTGGETASR YAIKILAICT NSYHEAREEV
IRLDKKLSVM MKLLSSEDEV LVGNAALCLG NCMEVPNVAS SLLKTDLLQV LLKLAGSDTQ
KTAVQVNAGI ALGKLCTAEP RFAAQLRKLH GLEILNSTMK YISDS*
mutated AA sequence MDADKEKDLQ KFLKNVDEIS NLIQEMNSDD PVVQQKAVLE TEKRLLLMEE DQEEDECRTT
LNKTMISPPQ TALKSAEEIN SEAFLASVEK DAKERAKRRR ENKVLADALK EKGNEAFAEG
NYETAILRYS EGLEKLKDMK VLYTNRAQAY MKLEDYEKAL VDCEWALKCD EKCTKAYFHM
GKANLALKNY SVSRECYKKI LEINPKLQTQ VKGYLNQVDL QEKADLQEKE AHELLDSGKN
TAVTTKNLLE TLSKPDQIPL FYAGGIEILT EMINECTEQT LFRMHNGFSI ISDNEVIRRC
FSTAGNDAVE EMVCVSVLKL WQAVCSRNEE NQRVLVIHHD RARLLAALLS SKVLAIRQQS
FALLLHLAQT ESGRSLIINH LDLTRLLEAL VSFLDFSDKE ANTAMGLFTD LALEERFQVW
FQANLPGVLP ALTGVLKTDP KVSSSSALCQ CIAIMGNLSA EPTTRRHMAA CEEFGDGCLS
LLARCEEDVD LFREVIYTLL GLMMNLCLQA PFVSEVWAVE VSRRCLSLLN SQDGGILTRA
AGVLSRTLSS SLKIVEEALR AGVVKKMMKF LKTGGETASR YAIKILAICT NSYHEAREEV
IRLDKKLSVM MKLLSSEDEV LVGNAALCLG NCMEVPNVAS SLLKTDLLQV LLKLAGSDTQ
KTAVQVNAGI ALGKLCTAEP RFAAQLRKLH GLEILNSTMK YISDS*
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