Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999966036 (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) chr10:89118125C>TN/A show variant in all transcripts   IGV
HGNC symbol NUTM2D
Ensembl transcript ID ENST00000412718
Genbank transcript ID NM_001009610
UniProt peptide Q5VT03
alteration type single base exchange
alteration region CDS
DNA changes c.103C>T
cDNA.649C>T
g.701C>T
AA changes H35Y Score: 83 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 35
frameshift no
known variant Reference ID: rs77153116
databasehomozygous (T/T)heterozygousallele carriers
1000G1869421128
ExAC19252343625361
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.6810.056
0.7860.049
(flanking)0.6810.033
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 increased700wt: 0.9401 / mu: 0.9412 (marginal change - not scored)wt: GGTCTTACCCTTGGCTTTTCTCATTGTGGAAACTGCCAGAC
mu: GGTCTTACCCTTGGCTTTTCTTATTGTGGAAACTGCCAGAC		 ttct|CATT
Acc marginally increased706wt: 0.9897 / mu: 0.9915 (marginal change - not scored)wt: ACCCTTGGCTTTTCTCATTGTGGAAACTGCCAGACAGCGGT
mu: ACCCTTGGCTTTTCTTATTGTGGAAACTGCCAGACAGCGGT		 ttgt|GGAA
Acc marginally increased705wt: 0.8996 / mu: 0.9185 (marginal change - not scored)wt: TACCCTTGGCTTTTCTCATTGTGGAAACTGCCAGACAGCGG
mu: TACCCTTGGCTTTTCTTATTGTGGAAACTGCCAGACAGCGG		 attg|TGGA
Acc marginally increased701wt: 0.9497 / mu: 0.9528 (marginal change - not scored)wt: GTCTTACCCTTGGCTTTTCTCATTGTGGAAACTGCCAGACA
mu: GTCTTACCCTTGGCTTTTCTTATTGTGGAAACTGCCAGACA		 tctc|ATTG
Acc marginally increased703wt: 0.9695 / mu: 0.9843 (marginal change - not scored)wt: CTTACCCTTGGCTTTTCTCATTGTGGAAACTGCCAGACAGC
mu: CTTACCCTTGGCTTTTCTTATTGTGGAAACTGCCAGACAGC		 tcat|TGTG
Acc marginally increased704wt: 0.9663 / mu: 0.9787 (marginal change - not scored)wt: TTACCCTTGGCTTTTCTCATTGTGGAAACTGCCAGACAGCG
mu: TTACCCTTGGCTTTTCTTATTGTGGAAACTGCCAGACAGCG		 catt|GTGG
Acc marginally increased691wt: 0.6510 / mu: 0.6799 (marginal change - not scored)wt: CACTCTCTGGGTCTTACCCTTGGCTTTTCTCATTGTGGAAA
mu: CACTCTCTGGGTCTTACCCTTGGCTTTTCTTATTGTGGAAA		 cctt|GGCT
Acc increased699wt: 0.24 / mu: 0.54wt: GGGTCTTACCCTTGGCTTTTCTCATTGTGGAAACTGCCAGA
mu: GGGTCTTACCCTTGGCTTTTCTTATTGTGGAAACTGCCAGA		 tttc|TCAT
distance from splice site 64
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      35GHSLGLTLGFSHCGNCQTAVVSAQ
mutated  all conserved    35GHSLGLTLGFSYCGNCQTAVVSA
Ptroglodytes  no homologue    
Mmulatta  no alignment  ENSMMUG00000019677  n/a
Fcatus  all identical  ENSFCAG00000010760  435AHAHPCRPRAFAA
Mmusculus  no alignment  ENSMUSG00000071909  n/a
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
206213COMPBIASPoly-Pro.might get lost (downstream of altered splice site)
353442COMPBIASPro-rich.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1674 / 1674
position (AA) of stopcodon in wt / mu AA sequence 558 / 558
position of stopcodon in wt / mu cDNA 2220 / 2220
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 547 / 547
chromosome 10
strand 1
last intron/exon boundary 2182
theoretical NMD boundary in CDS 1585
length of CDS 1674
coding sequence (CDS) position 103
cDNA position
(for ins/del: last normal base / first normal base)		 649
gDNA position
(for ins/del: last normal base / first normal base)		 701
chromosomal position
(for ins/del: last normal base / first normal base)		 89118125
original gDNA sequence snippet GTCTTACCCTTGGCTTTTCTCATTGTGGAAACTGCCAGACA
altered gDNA sequence snippet GTCTTACCCTTGGCTTTTCTTATTGTGGAAACTGCCAGACA
original cDNA sequence snippet GTCTTACCCTTGGCTTTTCTCATTGTGGAAACTGCCAGACA
altered cDNA sequence snippet GTCTTACCCTTGGCTTTTCTTATTGTGGAAACTGCCAGACA
wildtype AA sequence MFQEPVYFQI FLFQLDSGAS GEPGHSLGLT LGFSHCGNCQ TAVVSAQPEG MASNGAYPAL
GPGVTANPGT SLSVFTALPF TTPAPGPAHG PLLVTAGAPP GGPLVLSNFP STPLVTEQDG
CGPSGAGASN VFVQMRTEVG PVKAAQAQTL VLTQTPLVWQ APGALCGGVV CPPPLLLAAA
PVVPVMAAQV VGGTQACEGG WSQGLPLPPP PPPAAQLPPI VSQGNAGPWP QGAHGEGSLA
SSQAKAPPDD SCNPRSVYEN FRLWQHYKPL ARRHLPQSPD TEALSCFLIP VLRSLARRKP
TMTLEEGLWR AMREWQHTSN FDRMIFYEMA EKFLEFEAEE EMQIQKSQWM KGPQCLPPPA
TPRLEPRGPP APEVVKQPVY LPSKAGPKAP TACLPPPRPQ RPVTKARRPP PRPHRRAETK
ARLPPPRPQR PAETKVPEEI PPEVVQEYVD IMEELLGPSL GATGEPEKQR EEGEVKQPQE
EDWTPPDPGL LSYTDKLCSQ KDFVTKVEAV IHPQFLEELL SPDPQMDFLA LSQELEQEEG
LTLAQGAPSD APGTDRC*
mutated AA sequence MFQEPVYFQI FLFQLDSGAS GEPGHSLGLT LGFSYCGNCQ TAVVSAQPEG MASNGAYPAL
GPGVTANPGT SLSVFTALPF TTPAPGPAHG PLLVTAGAPP GGPLVLSNFP STPLVTEQDG
CGPSGAGASN VFVQMRTEVG PVKAAQAQTL VLTQTPLVWQ APGALCGGVV CPPPLLLAAA
PVVPVMAAQV VGGTQACEGG WSQGLPLPPP PPPAAQLPPI VSQGNAGPWP QGAHGEGSLA
SSQAKAPPDD SCNPRSVYEN FRLWQHYKPL ARRHLPQSPD TEALSCFLIP VLRSLARRKP
TMTLEEGLWR AMREWQHTSN FDRMIFYEMA EKFLEFEAEE EMQIQKSQWM KGPQCLPPPA
TPRLEPRGPP APEVVKQPVY LPSKAGPKAP TACLPPPRPQ RPVTKARRPP PRPHRRAETK
ARLPPPRPQR PAETKVPEEI PPEVVQEYVD IMEELLGPSL GATGEPEKQR EEGEVKQPQE
EDWTPPDPGL LSYTDKLCSQ KDFVTKVEAV IHPQFLEELL SPDPQMDFLA LSQELEQEEG
LTLAQGAPSD APGTDRC*
speed 0.54 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