Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999994199 (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) chr3:186006618G>CN/A show variant in all transcripts   IGV
HGNC symbol DGKG
Ensembl transcript ID ENST00000382164
Genbank transcript ID NM_001080745
UniProt peptide P49619
alteration type single base exchange
alteration region CDS
DNA changes c.425C>G
cDNA.685C>G
g.73409C>G
AA changes T142S Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 142
frameshift no
known variant Reference ID: rs1004588
databasehomozygous (C/C)heterozygousallele carriers
1000G67212551927
ExAC16711-65516056
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.9240.002
0.770.001
(flanking)0.1020
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 52
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      142KQAPAEDQVAATPLEPPVPRSSSS
mutated  all conserved    142KQAPAEDQVAASPLEPPVPRSSS
Ptroglodytes  all identical  ENSPTRG00000015710  142KQAPAEDQVAATPLEPPVPRSSS
Mmulatta  all identical  ENSMMUG00000021972  142MQAPTEDQVAATPPEPPVPRSSS
Fcatus  all identical  ENSFCAG00000005036  141KQVPTKDQVAATLLGNPVVPSPG
Mmusculus  not conserved  ENSMUSG00000022861  139TQAPSKELEAAAPWEDPGALASS
Ggallus  not conserved  ENSGALG00000005721  121SSLKAAPQHPPAPLAQ-
Trubripes  not conserved  ENSTRUG00000015988  137R---SQTEKHLLQRRSPSPHQSP
Drerio  all conserved  ENSDARG00000062696  172SNALALSKTSNSPRLSP
Dmelanogaster  not conserved  FBgn0085390  285LARKLSHFDPLTLK
Celegans  not conserved  F54G8.2  139PQALVCIPEDDVMG-----PRVANND
Xtropicalis  no homologue    
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2259 / 2259
position (AA) of stopcodon in wt / mu AA sequence 753 / 753
position of stopcodon in wt / mu cDNA 2519 / 2519
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 261 / 261
chromosome 3
strand -1
last intron/exon boundary 2421
theoretical NMD boundary in CDS 2110
length of CDS 2259
coding sequence (CDS) position 425
cDNA position
(for ins/del: last normal base / first normal base)		 685
gDNA position
(for ins/del: last normal base / first normal base)		 73409
chromosomal position
(for ins/del: last normal base / first normal base)		 186006618
original gDNA sequence snippet TGAAGACCAAGTGGCTGCGACCCCCCTGGAACCCCCCGTCC
altered gDNA sequence snippet TGAAGACCAAGTGGCTGCGAGCCCCCTGGAACCCCCCGTCC
original cDNA sequence snippet TGAAGACCAAGTGGCTGCGACCCCCCTGGAACCCCCCGTCC
altered cDNA sequence snippet TGAAGACCAAGTGGCTGCGAGCCCCCTGGAACCCCCCGTCC
wildtype AA sequence MGEERWVSLT PEEFDQLQKY SEYSSKKIKD ALTEFNEGGS LKQYDPHEPI SYDVFKLFMR
AYLEVDLPQP LSTHLFLAFS QKPRHETSDH PTEGASNSEA NSADTNIQNA DNATKADEAC
APDTESNMAE KQAPAEDQVA ATPLEPPVPR SSSSESPVVY LKDVVCYLSL LETGRPQDKL
EFMFRLYDSD ENGLLDQAEM DCIVNQMLHI AQYLEWDPTE LRPILKEMLQ GMDYDRDGFV
SLQEWVHGGM TTIPLLVLLG MDDSGSKGDG RHAWTMKHFK KPTYCNFCHI MLMGVRKQGL
CCTYCKYTVH ERCVSRNIPG CVKTYSKAKR SGEFHRKCEL STLCDGGELR DHILLPTSIC
PITRDRPGEK SDGCVSAKGE LVMQYKIIPT PGTHPLLVLV NPKSGGRQGE RILRKFHYLL
NPKQVFNLDN GGPTPGLNFF RDTPDFRVLA CGGDGTVGWI LDCIDKANFA KHPPVAVLPL
GTGNDLARCL RWGGGYEGGS LTKILKDIEQ SPLVMLDRWH LEVIPREEVE NGDQVPYSIM
NNYFSIGVDA SIAHRFHVMR EKHPEKFNSR MKNKLWYFEF GTSETFAATC KKLHDHIELE
CDGVGVDLSN IFLEGIAILN IPSMYGGTNL WGENKKNRAV IRESRKGVTD PKELKFCVQD
LSDQLLEVVG LEGAMEMGQI YTGLKSAGRR LAQCASVTIR TNKLLPMQVD GEPWMQPCCT
IKITHKNQAP MMMGPPQKSS FFSLRRKSRS KD*
mutated AA sequence MGEERWVSLT PEEFDQLQKY SEYSSKKIKD ALTEFNEGGS LKQYDPHEPI SYDVFKLFMR
AYLEVDLPQP LSTHLFLAFS QKPRHETSDH PTEGASNSEA NSADTNIQNA DNATKADEAC
APDTESNMAE KQAPAEDQVA ASPLEPPVPR SSSSESPVVY LKDVVCYLSL LETGRPQDKL
EFMFRLYDSD ENGLLDQAEM DCIVNQMLHI AQYLEWDPTE LRPILKEMLQ GMDYDRDGFV
SLQEWVHGGM TTIPLLVLLG MDDSGSKGDG RHAWTMKHFK KPTYCNFCHI MLMGVRKQGL
CCTYCKYTVH ERCVSRNIPG CVKTYSKAKR SGEFHRKCEL STLCDGGELR DHILLPTSIC
PITRDRPGEK SDGCVSAKGE LVMQYKIIPT PGTHPLLVLV NPKSGGRQGE RILRKFHYLL
NPKQVFNLDN GGPTPGLNFF RDTPDFRVLA CGGDGTVGWI LDCIDKANFA KHPPVAVLPL
GTGNDLARCL RWGGGYEGGS LTKILKDIEQ SPLVMLDRWH LEVIPREEVE NGDQVPYSIM
NNYFSIGVDA SIAHRFHVMR EKHPEKFNSR MKNKLWYFEF GTSETFAATC KKLHDHIELE
CDGVGVDLSN IFLEGIAILN IPSMYGGTNL WGENKKNRAV IRESRKGVTD PKELKFCVQD
LSDQLLEVVG LEGAMEMGQI YTGLKSAGRR LAQCASVTIR TNKLLPMQVD GEPWMQPCCT
IKITHKNQAP MMMGPPQKSS FFSLRRKSRS KD*
speed 1.09 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