Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999753934 (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
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analysed issue analysis result
name of alteration no title
alteration (phys. location) chr8:17739538T>CN/A show variant in all transcripts   IGV
HGNC symbol FGL1
Ensembl transcript ID ENST00000521427
Genbank transcript ID N/A
UniProt peptide Q08830
alteration type single base exchange
alteration region CDS
DNA changes c.124A>G
cDNA.781A>G
g.28337A>G
AA changes I42V Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 42
frameshift no
known variant Reference ID: rs3739406
databasehomozygous (C/C)heterozygousallele carriers
1000G50510541559
ExAC20309-785112458
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.3790.049
-0.0660.016
(flanking)0.5860.017
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 31
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      42QFLDKGDENTVIDLGSKRQYADCS
mutated  all conserved    42QFLDKGDENTVVDLGSKRQYADC
Ptroglodytes  all identical  ENSPTRG00000020025  72QFLDKGDENTVIDLGSKRQYADC
Mmulatta  no alignment  ENSMMUG00000008862  n/a
Fcatus  not conserved  ENSFCAG00000000427  72KFVHKGEENVVHDRRGKR
Mmusculus  all identical  ENSMUSG00000031594  74QFLDKGSENSFIDLGGKKQYADC
Ggallus  all identical  ENSGALG00000013606  73QYRDRGDENSVIDLGGKRQYSDC
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000087772  26SFYDTGDT----------QYMDC
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000000679  73QLMDRGDENRVINLAEKRVYADC
protein features
start (aa)end (aa)featuredetails 
2361COILEDPotential.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 849 / 849
position (AA) of stopcodon in wt / mu AA sequence 283 / 283
position of stopcodon in wt / mu cDNA 1506 / 1506
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 658 / 658
chromosome 8
strand -1
last intron/exon boundary 1347
theoretical NMD boundary in CDS 639
length of CDS 849
coding sequence (CDS) position 124
cDNA position
(for ins/del: last normal base / first normal base)		 781
gDNA position
(for ins/del: last normal base / first normal base)		 28337
chromosomal position
(for ins/del: last normal base / first normal base)		 17739538
original gDNA sequence snippet AAGGAGATGAGAATACTGTCATTGATCTTGGAAGCAAGAGG
altered gDNA sequence snippet AAGGAGATGAGAATACTGTCGTTGATCTTGGAAGCAAGAGG
original cDNA sequence snippet AAGGAGATGAGAATACTGTCATTGATCTTGGAAGCAAGAGG
altered cDNA sequence snippet AAGGAGATGAGAATACTGTCGTTGATCTTGGAAGCAAGAGG
wildtype AA sequence MRLRAQVRLL ETRVKQQQVK IKQLLQENEV QFLDKGDENT VIDLGSKRQY ADCSEIFNDG
YKLSGFYKIK PLQSPAEFSV YCDMSDGGGW TVIQRRSDGS ENFNRGWKDY ENGFGNFVQK
HGEYWLGNKN LHFLTTQEDY TLKIDLADFE KNSRYAQYKN FKVGDEKNFY ELNIGEYSGT
AGDSLAGNFH PEVQWWASHQ RMKFSTWDRD HDNYEGNCAE EDQSGWWFNR CHSANLNGVY
YSGPYTAKTD NGIVWYTWHG WWYSLKSVVM KIRPNDFIPN VI*
mutated AA sequence MRLRAQVRLL ETRVKQQQVK IKQLLQENEV QFLDKGDENT VVDLGSKRQY ADCSEIFNDG
YKLSGFYKIK PLQSPAEFSV YCDMSDGGGW TVIQRRSDGS ENFNRGWKDY ENGFGNFVQK
HGEYWLGNKN LHFLTTQEDY TLKIDLADFE KNSRYAQYKN FKVGDEKNFY ELNIGEYSGT
AGDSLAGNFH PEVQWWASHQ RMKFSTWDRD HDNYEGNCAE EDQSGWWFNR CHSANLNGVY
YSGPYTAKTD NGIVWYTWHG WWYSLKSVVM KIRPNDFIPN VI*
speed 1.19 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