Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999990638520657 (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) chr18:691266A>GN/A show variant in all transcripts   IGV
HGNC symbol ENOSF1
Ensembl transcript ID ENST00000340116
Genbank transcript ID NM_202758
UniProt peptide Q7L5Y1
alteration type single base exchange
alteration region CDS
DNA changes c.497T>C
cDNA.535T>C
g.21411T>C
AA changes M166T Score: 81 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 166
frameshift no
known variant Reference ID: rs2612086
databasehomozygous (G/G)heterozygousallele carriers
1000G1799221101
ExAC64741981926293
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.730.97
0.1450.953
(flanking)0.8720.958
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 11
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      166VWKLLVDMDPRMLVSCIDFRYITD
mutated  not conserved    166VWKLLVDMDPRTLVSCIDFRYIT
Ptroglodytes  not conserved  ENSPTRG00000009823  145TLVSCIDFRYIT
Mmulatta  no alignment  ENSMMUG00000004051  n/a
Fcatus  no homologue    
Mmusculus  no homologue    
Ggallus  no homologue    
Trubripes  not conserved  ENSTRUG00000002621  142QIVSCIDFRYIT
Drerio  not conserved  ENSDARG00000038359  144KLISCIDFRYLT
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
161170HELIXlost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1353 / 1353
position (AA) of stopcodon in wt / mu AA sequence 451 / 451
position of stopcodon in wt / mu cDNA 1391 / 1391
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 39 / 39
chromosome 18
strand -1
last intron/exon boundary 1290
theoretical NMD boundary in CDS 1201
length of CDS 1353
coding sequence (CDS) position 497
cDNA position
(for ins/del: last normal base / first normal base)		 535
gDNA position
(for ins/del: last normal base / first normal base)		 21411
chromosomal position
(for ins/del: last normal base / first normal base)		 691266
original gDNA sequence snippet ACGTTGCCAGGATCCCAGGATGCTGGTATCCTGCATAGATT
altered gDNA sequence snippet ACGTTGCCAGGATCCCAGGACGCTGGTATCCTGCATAGATT
original cDNA sequence snippet TGTGGACATGGATCCCAGGATGCTGGTATCCTGCATAGATT
altered cDNA sequence snippet TGTGGACATGGATCCCAGGACGCTGGTATCCTGCATAGATT
wildtype AA sequence MVSADAMVSA DAMVSADAMV SADAMVSADA MVSADAMVSA DAMVSADAMH TDPDYSAAYV
VIETDAEDGI KGCGITFTLG KGTEVVVCAV NALAHHVLNK DLKDIVGDFR GFYRQLTSDG
QLRWIGPEKG VVHLATAAVL NAVWDLWAKQ EGKPVWKLLV DMDPRMLVSC IDFRYITDVL
TEEDALEILQ KGQIGKKERE KQMLAQGYPA YTTSCAWLGY SDDTLKQLCA QALKDGWTRF
KVKVGADLQD DMRRCQIIRD MIGPEKTLMM DANQRWDVPE AVEWMSKLAK FKPLWIEEPT
SPDDILGHAT ISKCHNRVIF KQLLQAKALQ FLQIDSCRLG SVNENLSVLL MAKKFEIPVC
PHAGGVGLCE LVQHLIIFDY ISVSASLENR VCEYVDHLHE HFKYPVMIQR ASYMPPKDPG
YSTEMKEESV KKHQYPDGEV WKKLLPAQEN *
mutated AA sequence MVSADAMVSA DAMVSADAMV SADAMVSADA MVSADAMVSA DAMVSADAMH TDPDYSAAYV
VIETDAEDGI KGCGITFTLG KGTEVVVCAV NALAHHVLNK DLKDIVGDFR GFYRQLTSDG
QLRWIGPEKG VVHLATAAVL NAVWDLWAKQ EGKPVWKLLV DMDPRTLVSC IDFRYITDVL
TEEDALEILQ KGQIGKKERE KQMLAQGYPA YTTSCAWLGY SDDTLKQLCA QALKDGWTRF
KVKVGADLQD DMRRCQIIRD MIGPEKTLMM DANQRWDVPE AVEWMSKLAK FKPLWIEEPT
SPDDILGHAT ISKCHNRVIF KQLLQAKALQ FLQIDSCRLG SVNENLSVLL MAKKFEIPVC
PHAGGVGLCE LVQHLIIFDY ISVSASLENR VCEYVDHLHE HFKYPVMIQR ASYMPPKDPG
YSTEMKEESV KKHQYPDGEV WKKLLPAQEN *
speed 0.78 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