Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: without_aae, prob: 1      (explain)
Summary
  • known disease mutation at this position (HGMD CM993650)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr9:71687590T>AN/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.37416T>A
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs149335881
Allele 'A' was neither found in ExAC nor 1000G.
known disease mutation at this position, please check HGMD for details (HGMD ID CM993650)

known disease mutation at this position, please check HGMD for details (HGMD ID CM993650)
known disease mutation at this position, please check HGMD for details (HGMD ID CM993650)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)3.7681
4.4721
(flanking)0.3311
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased37419wt: 0.2729 / mu: 0.2831 (marginal change - not scored)wt: CCACGACGGCGTGTCCCTCCATGAGCTGCTGGCCGCAGAGC
mu: CCACGACGGCGTGTCCCACCATGAGCTGCTGGCCGCAGAGC		 tcca|TGAG
Donor increased37417wt: 0.48 / mu: 0.74wt: TCCCTCCATGAGCTG
mu: TCCCACCATGAGCTG		 CCTC|catg
Donor increased37415wt: 0.48 / mu: 0.61wt: TGTCCCTCCATGAGC
mu: TGTCCCACCATGAGC		 TCCC|tcca
distance from splice site 7639
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)		 37416
chromosomal position
(for ins/del: last normal base / first normal base)		 71687590
original gDNA sequence snippet CTCCCACGACGGCGTGTCCCTCCATGAGCTGCTGGCCGCAG
altered gDNA sequence snippet CTCCCACGACGGCGTGTCCCACCATGAGCTGCTGGCCGCAG
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 0.07 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