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 ENST00000585128
Genbank transcript ID N/A
UniProt peptide Q7L5Y1
alteration type single base exchange
alteration region CDS
DNA changes c.188T>C
cDNA.234T>C
g.21411T>C
AA changes M63T Score: 81 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 63
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      63VWKLLVDMDPRMLVSCIDFRYITD
mutated  not conserved    63PRTLVSCIDFRYIT
Ptroglodytes  not conserved  ENSPTRG00000009823  145VWKLLVDMDPRTLVSCIDFRYIT
Mmulatta  no alignment  ENSMMUG00000004051  n/a
Fcatus  no homologue    
Mmusculus  no homologue    
Ggallus  no homologue    
Trubripes  not conserved  ENSTRUG00000002621  142LWKLLVDMDPKQIVSCIDFRYIT
Drerio  not conserved  ENSDARG00000038359  144LWKLLVDMDPAKLISCIDFRYLT
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
6272HELIXlost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1086 / 1086
position (AA) of stopcodon in wt / mu AA sequence 362 / 362
position of stopcodon in wt / mu cDNA 1132 / 1132
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 47 / 47
chromosome 18
strand -1
last intron/exon boundary 1031
theoretical NMD boundary in CDS 934
length of CDS 1086
coding sequence (CDS) position 188
cDNA position
(for ins/del: last normal base / first normal base)		 234
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 MQKMESRGVE LPSLWEKALK LIGPEKGVVH LATAAVLNAV WDLWAKQEGK PVWKLLVDMD
PRMLVSCIDF RYITDVLTEE DALEILQKGQ IGKKEREKQM LAQGYPAYTT SCAWLGYSDD
TLKQLCAQAL KDGWTRFKVK VGADLQDDMR RCQIIRDMIG PEKTLMMDAN QRWDVPEAVE
WMSKLAKFKP LWIEEPTSPD DILGHATISK ALVPLGIGIA TGEQCHNRVI FKQLLQAKAL
QFLQIDSCRL GSVNENLSVL LMAKKFEIPV CPHAGGVGLC ELVQHLIIFD YISVSASLEN
RVCEYVDHLH EHFKYPVMIQ RASYMPPKDP GYSTEMKEES VKKHQYPDGE VWKKLLPAQE
N*
mutated AA sequence MQKMESRGVE LPSLWEKALK LIGPEKGVVH LATAAVLNAV WDLWAKQEGK PVWKLLVDMD
PRTLVSCIDF RYITDVLTEE DALEILQKGQ IGKKEREKQM LAQGYPAYTT SCAWLGYSDD
TLKQLCAQAL KDGWTRFKVK VGADLQDDMR RCQIIRDMIG PEKTLMMDAN QRWDVPEAVE
WMSKLAKFKP LWIEEPTSPD DILGHATISK ALVPLGIGIA TGEQCHNRVI FKQLLQAKAL
QFLQIDSCRL GSVNENLSVL LMAKKFEIPV CPHAGGVGLC ELVQHLIIFD YISVSASLEN
RVCEYVDHLH EHFKYPVMIQ RASYMPPKDP GYSTEMKEES VKKHQYPDGE VWKKLLPAQE
N*
speed 0.76 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