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 ENST00000389737
Genbank transcript ID NM_152544
UniProt peptide Q8IYL2
alteration type single base exchange
alteration region CDS
DNA changes c.1054A>G
cDNA.1054A>G
g.16773A>G
AA changes R352G Score: 125 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 352
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      352LILWEEERAERRLTARQSFVDLGC
mutated  not conserved    352LILWEEERAERGLTARQSFV
Ptroglodytes  no homologue    
Mmulatta  not conserved  ENSMMUG00000006235  123ERGLTARQSFVDLG
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000029097  308LILWEEERAEKGVTTKQ
Ggallus  not conserved  ENSGALG00000015594  270GLANKQSFVDLG
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  267LILWEEERSQKQLREKQSF
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2274 / 2274
position (AA) of stopcodon in wt / mu AA sequence 758 / 758
position of stopcodon in wt / mu cDNA 2274 / 2274
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 1 / 1
chromosome 4
strand 1
last intron/exon boundary 2045
theoretical NMD boundary in CDS 1994
length of CDS 2274
coding sequence (CDS) position 1054
cDNA position
(for ins/del: last normal base / first normal base)		 1054
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 MAEVGRTGIS YPGALLPQGF WAAVEVWLER PQVANKRLCG ARLEARWSAA LPCAEARGPG
TSAGSEQKER GPGPGQGSPG GGPGPRSLSG PEQGTACCEL EEAQGQCQQE EAQREAASVP
LRDSGHPGHA EGREGDFPAA DLDSLWEDFS QSLARGNSEL LAFLTSSGAG SQPEAQRELD
VVLRTVIPKT SPHCPLTTPR REIVVQDVLN GTITFLPLEE DDEGNLKVKM SNVYQIQLSH
SKEEWFISVL IFCPERWHSD GIVYPKPTWL GEELLAKLAK WSVENKKSDF KSTLSLISIM
KYSKAYQELK EKYKEMVKVW PEVTDPEKFV YEDVAIAAYL LILWEEERAE RRLTARQSFV
DLGCGNGLLV HILSSEGHPG RGIDVRRRKI WDMYGPQTQL EEDAITPNDK TLFPDVDWLI
GNHSDELTPW IPVIAARSSY NCRFFVLPCC FFDFIGRYSR RQSKKTQYRE YLDFIKEVGF
TCGFHVDEDC LRIPSTKRVC LVGKSRTYPS SREASVDEKR TQYIKSRRGC PVSPPGWELS
PSPRWVAAGS AGHCDGQQAL DARVGCVTRA WAAEHGAGPQ AEGPWLPGFH PREKAERVRN
CAALPRDFID QVVLQVANLL LGGKQLNTRS SRNGSLKTWN GGESLSLAEV ANELDTETLR
RLKRECGGLQ TLLRNSHQVF QVVNGRVHIR DWREETLWKT KQPEAKQRLL SEACKTRLCW
FFMHHPDGCA LSTDCCPFAH GPAELRPPRT TPRKKIS*
mutated AA sequence MAEVGRTGIS YPGALLPQGF WAAVEVWLER PQVANKRLCG ARLEARWSAA LPCAEARGPG
TSAGSEQKER GPGPGQGSPG GGPGPRSLSG PEQGTACCEL EEAQGQCQQE EAQREAASVP
LRDSGHPGHA EGREGDFPAA DLDSLWEDFS QSLARGNSEL LAFLTSSGAG SQPEAQRELD
VVLRTVIPKT SPHCPLTTPR REIVVQDVLN GTITFLPLEE DDEGNLKVKM SNVYQIQLSH
SKEEWFISVL IFCPERWHSD GIVYPKPTWL GEELLAKLAK WSVENKKSDF KSTLSLISIM
KYSKAYQELK EKYKEMVKVW PEVTDPEKFV YEDVAIAAYL LILWEEERAE RGLTARQSFV
DLGCGNGLLV HILSSEGHPG RGIDVRRRKI WDMYGPQTQL EEDAITPNDK TLFPDVDWLI
GNHSDELTPW IPVIAARSSY NCRFFVLPCC FFDFIGRYSR RQSKKTQYRE YLDFIKEVGF
TCGFHVDEDC LRIPSTKRVC LVGKSRTYPS SREASVDEKR TQYIKSRRGC PVSPPGWELS
PSPRWVAAGS AGHCDGQQAL DARVGCVTRA WAAEHGAGPQ AEGPWLPGFH PREKAERVRN
CAALPRDFID QVVLQVANLL LGGKQLNTRS SRNGSLKTWN GGESLSLAEV ANELDTETLR
RLKRECGGLQ TLLRNSHQVF QVVNGRVHIR DWREETLWKT KQPEAKQRLL SEACKTRLCW
FFMHHPDGCA LSTDCCPFAH GPAELRPPRT TPRKKIS*
speed 0.99 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