Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 1 (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
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr14:50778816A>CN/A show variant in all transcripts   IGV
HGNC symbol L2HGDH
Ensembl transcript ID ENST00000555610
Genbank transcript ID N/A
UniProt peptide Q9H9P8
alteration type single base exchange
alteration region CDS
DNA changes c.53T>G
cDNA.57T>G
g.451T>G
AA changes L18R Score: 102 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 18
frameshift no
known variant Reference ID: rs2275591
databasehomozygous (C/C)heterozygousallele carriers
1000G82712142041
ExAC1617441916593
regulatory features Ap2alpha, Transcription Factor, Ap2alpha Transcription Factor Binding
Ap2gamma, Transcription Factor, Ap2gamma Transcription Factor Binding
CTCF, Transcription Factor, CCCTC-binding factor
CTCFL, Transcription Factor, CTCFL Transcription Factor Binding
Cmyc, Transcription Factor, Cmyc TF binding
DNase1, Open Chromatin, DNase1 Hypersensitive Site
E2F1, Transcription Factor, E2F1 Transcription Factor Binding
E2F6, Transcription Factor, E2F6 Transcription Factor Binding
ELF1, Transcription Factor, ELF1 Transcription Factor Binding
H2AZ, Histone, Histone 2A variant Z
H2BK20ac, Histone, Histone 2B Lysine 20 Acetylation
H2BK5ac, Histone, Histone 2B Lysine 5 Acetylation
H3K18ac, Histone, Histone 3 Lysine 18 Acetylation
H3K27ac, Histone, Histone 3 Lysine 27 Acetylation
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
H3K9ac, Histone, Histone 3 Lysine 9 Acetylation
H4K91ac, Histone, Histone 4 Lysine 91 Acetylation
HEY1, Transcription Factor, HEY1 Transcription Factor Binding
Max, Transcription Factor, Max TF binding
PolII, Polymerase, RNA Polymerase II
Promoter Associated, Regulatory Feature, Promoter like regulatory feature
TAF1, Transcription Factor, TAF1 Transcription Factor Binding
USF1, Transcription Factor, USF1 Transcription Factor Binding
ZEB1, Transcription Factor, ZEB1 Transcription Factor Binding
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.2490
-0.7590
(flanking)-0.5430
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 57
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      18YLVGACGRARGLFAGGSPGACGFA
mutated  not conserved    18YLVGACGRARGRFAGGSPGACGF
Ptroglodytes  not conserved  ENSPTRG00000006329  18YLVGACGRARGSFAGGSPGACGF
Mmulatta  not conserved  ENSMMUG00000007468  18YLVGACGRARGGFAGGFLGACGS
Fcatus  not conserved  ENSFCAG00000002707  18YIRGACGPALGGFPGGFSSAGRP
Mmusculus  not conserved  ENSMUSG00000020988  18YVGGVCGLARYCVAGGFLRASGP
Ggallus  not conserved  ENSGALG00000012282  3RGRRAHSGPGRAGD
Trubripes  no alignment  ENSTRUG00000009830  n/a
Drerio  not conserved  ENSDARG00000060500  9CGIMMRTFGSGSVCARLL
Dmelanogaster  no alignment  FBgn0032729  n/a
Celegans  no alignment  Y45G12B.3  n/a
Xtropicalis  no alignment  ENSXETG00000019714  n/a
protein features
start (aa)end (aa)featuredetails 
151TRANSITMitochondrion (Potential).lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 636 / 636
position (AA) of stopcodon in wt / mu AA sequence 212 / 212
position of stopcodon in wt / mu cDNA 640 / 640
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 5 / 5
chromosome 14
strand -1
last intron/exon boundary 624
theoretical NMD boundary in CDS 569
length of CDS 636
coding sequence (CDS) position 53
cDNA position
(for ins/del: last normal base / first normal base)		 57
gDNA position
(for ins/del: last normal base / first normal base)		 451
chromosomal position
(for ins/del: last normal base / first normal base)		 50778816
original gDNA sequence snippet CTGCGGACGGGCCCGCGGGCTTTTCGCCGGTGGCTCCCCTG
altered gDNA sequence snippet CTGCGGACGGGCCCGCGGGCGTTTCGCCGGTGGCTCCCCTG
original cDNA sequence snippet CTGCGGACGGGCCCGCGGGCTTTTCGCCGGTGGCTCCCCTG
altered cDNA sequence snippet CTGCGGACGGGCCCGCGGGCGTTTCGCCGGTGGCTCCCCTG
wildtype AA sequence MVPALRYLVG ACGRARGLFA GGSPGACGFA SGRPRPLCGG SRSASTSSFD IVIVGGGIVG
LASARALILR HPSLSIGVLE KEKDLAVHQT GHNSGVIHSG IYYKPESLKA KLCVQGAALL
YEYCQQKGIS YKQCGKLIVA VEQEEIPRLQ ALYEKGLQNG VPGLRLIQQE DIKKKEPYCR
ISSCVSITYQ KTIIFPLCCS IAFMISGSNG Y*
mutated AA sequence MVPALRYLVG ACGRARGRFA GGSPGACGFA SGRPRPLCGG SRSASTSSFD IVIVGGGIVG
LASARALILR HPSLSIGVLE KEKDLAVHQT GHNSGVIHSG IYYKPESLKA KLCVQGAALL
YEYCQQKGIS YKQCGKLIVA VEQEEIPRLQ ALYEKGLQNG VPGLRLIQQE DIKKKEPYCR
ISSCVSITYQ KTIIFPLCCS IAFMISGSNG Y*
speed 0.57 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