Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999944136957386      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM993647)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr9:71668156G>TN/A show variant in all transcripts   IGV
HGNC symbol FXN
Ensembl transcript ID ENST00000396366
Genbank transcript ID NM_181425
UniProt peptide Q16595
alteration type single base exchange
alteration region CDS
DNA changes c.364G>T
cDNA.385G>T
g.17982G>T
AA changes D122Y Score: 160 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 122
frameshift no
known variant Reference ID: rs142157346
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation at this position, please check HGMD for details (HGMD ID CM993647)

known disease mutation at this position, please check HGMD for details (HGMD ID CM993647)
known disease mutation at this position, please check HGMD for details (HGMD ID CM993647)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.3210.968
3.9531
(flanking)3.2971
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased17975wt: 0.57 / mu: 0.96wt: TACACGTTTGAGGAC
mu: TACACGTTTGAGTAC		 CACG|tttg
Donor increased17985wt: 0.85 / mu: 0.94wt: AGGACTATGATGTCT
mu: AGTACTATGATGTCT		 GACT|atga
distance from splice site 21
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      122EDLADKPYTFEDYDVSFGSGVLTV
mutated  not conserved    122EYYDVSFGSGVLT
Ptroglodytes  no homologue    
Mmulatta  all identical  ENSMMUG00000000357  122EDYDVSFGSGVLT
Fcatus  all identical  ENSFCAG00000008813  120EDLADKPYTLKDYDVSFGSGVLT
Mmusculus  all identical  ENSMUSG00000059363  119EDYDVSFGDGVLT
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000074356  116EDLTDENFTGLDYDVVFSNGVLT
Dmelanogaster  not conserved  FBgn0030092  100EELTENASELQGTDVAYSDGVLT
Celegans  not conserved  F59G1.7  52DQIADSFPVSEQFDVSHAMGVLT
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
124128STRANDmight get lost (downstream of altered splice site)
131135STRANDmight get lost (downstream of altered splice site)
138140TURNmight get lost (downstream of altered splice site)
142148STRANDmight get lost (downstream of altered splice site)
149152TURNmight get lost (downstream of altered splice site)
153157STRANDmight get lost (downstream of altered splice site)
159161STRANDmight get lost (downstream of altered splice site)
164168STRANDmight get lost (downstream of altered splice site)
170175STRANDmight get lost (downstream of altered splice site)
175175CONFLICTY -> F (in Ref. 1; AAA98508/AAA98510).might get lost (downstream of altered splice site)
176178TURNmight get lost (downstream of altered splice site)
182194HELIXmight get lost (downstream of altered splice site)
202202CONFLICTS -> W (in Ref. 1; AAA98508/AAA98510).might get lost (downstream of altered splice site)
206208STRANDmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 591 / 591
position (AA) of stopcodon in wt / mu AA sequence 197 / 197
position of stopcodon in wt / mu cDNA 612 / 612
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 22 / 22
chromosome 9
strand 1
last intron/exon boundary 512
theoretical NMD boundary in CDS 440
length of CDS 591
coding sequence (CDS) position 364
cDNA position
(for ins/del: last normal base / first normal base)		 385
gDNA position
(for ins/del: last normal base / first normal base)		 17982
chromosomal position
(for ins/del: last normal base / first normal base)		 71668156
original gDNA sequence snippet ACAAGCCATACACGTTTGAGGACTATGATGTCTCCTTTGGG
altered gDNA sequence snippet ACAAGCCATACACGTTTGAGTACTATGATGTCTCCTTTGGG
original cDNA sequence snippet ACAAGCCATACACGTTTGAGGACTATGATGTCTCCTTTGGG
altered cDNA sequence snippet ACAAGCCATACACGTTTGAGTACTATGATGTCTCCTTTGGG
wildtype AA sequence MWTLGRRAVA GLLASPSPAQ AQTLTRVPRP AELAPLCGRR GLRTDIDATC TPRRASSNQR
GLNQIWNVKK QSVYLMNLRK SGTLGHPGSL DETTYERLAE ETLDSLAEFF EDLADKPYTF
EDYDVSFGSG VLTVKLGGDL GTYVINKQTP NKQIWLSSPS RYVVDLSVMT GLGKTGCTPT
TACPSMSCWP QSSLKP*
mutated AA sequence MWTLGRRAVA GLLASPSPAQ AQTLTRVPRP AELAPLCGRR GLRTDIDATC TPRRASSNQR
GLNQIWNVKK QSVYLMNLRK SGTLGHPGSL DETTYERLAE ETLDSLAEFF EDLADKPYTF
EYYDVSFGSG VLTVKLGGDL GTYVINKQTP NKQIWLSSPS RYVVDLSVMT GLGKTGCTPT
TACPSMSCWP QSSLKP*
speed 0.65 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