Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999986211 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr4:8454639A>GN/A show variant in all transcripts   IGV
HGNC symbol TRMT44
Ensembl transcript ID ENST00000513449
Genbank transcript ID N/A
UniProt peptide Q8IYL2
alteration type single base exchange
alteration region CDS
DNA changes c.331A>G
cDNA.580A>G
g.16773A>G
AA changes R111G Score: 125 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 111
frameshift no
known variant Reference ID: rs1880024
databasehomozygous (G/G)heterozygousallele carriers
1000G14528472299
ExAC414924726621
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.5010.113
0.5230.108
(flanking)2.0530.111
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased16770wt: 0.8820 / mu: 0.8920 (marginal change - not scored)wt: CTGAGAGGAGACTAA
mu: CTGAGAGGGGACTAA		 GAGA|ggag
distance from splice site 31
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      111LILWEEERAERRLTARQSFVDLGC
mutated  not conserved    111LILWEEERAERGLTARQSFVD
Ptroglodytes  no homologue    
Mmulatta  not conserved  ENSMMUG00000006235  123LILWEEERAERGLTARQSFVDLG
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000029097  308LILWEEERAEKGVTTKQSFVDLG
Ggallus  not conserved  ENSGALG00000015594  270LVLWEEERKEKGLANKQSFVDLG
Trubripes  not conserved  ENSTRUG00000011090  257LVLWAEERARKGLTARQTFVDLG
Drerio  not conserved  ENSDARG00000033957  250LVLWAEERAEKGTTTKQSFVDLG
Dmelanogaster  not conserved  FBgn0037708  213IVLWSQTQSEPT-----AFADLG
Celegans  not conserved  C23G10.7  243NELVNSDL----LPKPNKFVDIG
Xtropicalis  all conserved  ENSXETG00000030882  267LILWEEERSQKQLREKQSFVDLG
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1236 / 1236
position (AA) of stopcodon in wt / mu AA sequence 412 / 412
position of stopcodon in wt / mu cDNA 1485 / 1485
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 250 / 250
chromosome 4
strand 1
last intron/exon boundary 1021
theoretical NMD boundary in CDS 721
length of CDS 1236
coding sequence (CDS) position 331
cDNA position
(for ins/del: last normal base / first normal base)		 580
gDNA position
(for ins/del: last normal base / first normal base)		 16773
chromosomal position
(for ins/del: last normal base / first normal base)		 8454639
original gDNA sequence snippet AAGAAGAAAGGGCTGAGAGGAGACTAACTGCCAGGCAGTCC
altered gDNA sequence snippet AAGAAGAAAGGGCTGAGAGGGGACTAACTGCCAGGCAGTCC
original cDNA sequence snippet AAGAAGAAAGGGCTGAGAGGAGACTAACTGCCAGGCAGTCC
altered cDNA sequence snippet AAGAAGAAAGGGCTGAGAGGGGACTAACTGCCAGGCAGTCC
wildtype AA sequence MCIKFSSVIA KKNERWHSDG IVYPKPTWLG EELLAKLAKW SVENKKSDFK STLSLISIMK
YSKAYQELKE KYKEMVKVWP EVTDPEKFVY EDVAIAAYLL ILWEEERAER RLTARQSFVD
LGCGNGLLVH ILSSEGHPGR GIDVRRRKIW DMYGPQTQLE EDAITPNDKT LFPDVDWLIG
NHSDELTPWI PVIAARSSYN CRFFVLPCCF FDFIGRYSRR QSKKTQYREY LDFIKEVGFT
CGFHVDEDCL RIPSTKRVCL VGKSRTYPSS REASVDEKRT QYIKSRRGCP VSPPGWELSP
SPRWVAAGSA GHCDGQQALD ARVGCVTRAW AAEHGAGPQA EGPWLPGFHP REKAERVRNC
AALPRDFIDQ VVLQVANLLL GGKQLNTRSS RNGSLKTWNG GGKLSTILGR G*
mutated AA sequence MCIKFSSVIA KKNERWHSDG IVYPKPTWLG EELLAKLAKW SVENKKSDFK STLSLISIMK
YSKAYQELKE KYKEMVKVWP EVTDPEKFVY EDVAIAAYLL ILWEEERAER GLTARQSFVD
LGCGNGLLVH ILSSEGHPGR GIDVRRRKIW DMYGPQTQLE EDAITPNDKT LFPDVDWLIG
NHSDELTPWI PVIAARSSYN CRFFVLPCCF FDFIGRYSRR QSKKTQYREY LDFIKEVGFT
CGFHVDEDCL RIPSTKRVCL VGKSRTYPSS REASVDEKRT QYIKSRRGCP VSPPGWELSP
SPRWVAAGSA GHCDGQQALD ARVGCVTRAW AAEHGAGPQA EGPWLPGFHP REKAERVRNC
AALPRDFIDQ VVLQVANLLL GGKQLNTRSS RNGSLKTWNG GGKLSTILGR G*
speed 0.55 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