Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: without_aae, prob: 1      (explain)
Summary
  • known disease mutation at this position (HGMD CM983507)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr9:71687589C>TN/A show variant in all transcripts   IGV
HGNC symbol FXN
Ensembl transcript ID ENST00000396364
Genbank transcript ID NM_001161706
UniProt peptide Q16595
alteration type single base exchange
alteration region intron
DNA changes g.37415C>T
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs139616452
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation at this position, please check HGMD for details (HGMD ID CM983507)

known disease mutation at this position, please check HGMD for details (HGMD ID CM983507)
known disease mutation at this position, please check HGMD for details (HGMD ID CM983507)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.2230.904
3.7681
(flanking)4.4721
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased37420wt: 0.53 / mu: 0.65wt: CACGACGGCGTGTCCCTCCATGAGCTGCTGGCCGCAGAGCT
mu: CACGACGGCGTGTCCTTCCATGAGCTGCTGGCCGCAGAGCT		 ccat|GAGC
Acc increased37418wt: 0.22 / mu: 0.43wt: CCCACGACGGCGTGTCCCTCCATGAGCTGCTGGCCGCAGAG
mu: CCCACGACGGCGTGTCCTTCCATGAGCTGCTGGCCGCAGAG		 ctcc|ATGA
Acc increased37419wt: 0.27 / mu: 0.50wt: CCACGACGGCGTGTCCCTCCATGAGCTGCTGGCCGCAGAGC
mu: CCACGACGGCGTGTCCTTCCATGAGCTGCTGGCCGCAGAGC		 tcca|TGAG
distance from splice site 7638
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
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 N/A
AA sequence altered N/A
position of stopcodon in wt / mu CDS N/A
position (AA) of stopcodon in wt / mu AA sequence N/A
position of stopcodon in wt / mu cDNA N/A
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 221 / 221
chromosome 9
strand 1
last intron/exon boundary 703
theoretical NMD boundary in CDS 432
length of CDS 516
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 N/A
gDNA position
(for ins/del: last normal base / first normal base)		 37415
chromosomal position
(for ins/del: last normal base / first normal base)		 71687589
original gDNA sequence snippet ACTCCCACGACGGCGTGTCCCTCCATGAGCTGCTGGCCGCA
altered gDNA sequence snippet ACTCCCACGACGGCGTGTCCTTCCATGAGCTGCTGGCCGCA
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MWTLGRRAVA GLLASPSPAQ AQTLTRVPRP AELAPLCGRR GLRTDIDATC TPRRASSNQR
GLNQIWNVKK QSVYLMNLRK SGTLGHPGSL DETTYERLAE ETLDSLAEFF EDLADKPYTF
EDYDVSFGSG VLTVKLGGDL GTYVINKQTP NKQIWLSSPS RLTWLLWLFH P*
mutated AA sequence N/A
speed 0.96 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