Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: without_aae, prob: 1      (explain)
Summary
  • known disease mutation at this position (HGMD CM003732)
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr9:71687539G>CN/A show variant in all transcripts   IGV
HGNC symbol FXN
Ensembl transcript ID ENST00000396364
Genbank transcript ID NM_001161706
UniProt peptide N/A
alteration type single base exchange
alteration region intron
DNA changes g.37365G>C
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs143396368
databasehomozygous (C/C)heterozygousallele carriers
1000G---
ExAC022

known disease mutation at this position, please check HGMD for details (HGMD ID CM003732)

known disease mutation at this position, please check HGMD for details (HGMD ID CM003732)
known disease mutation at this position, please check HGMD for details (HGMD ID CM003732)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)5.5151
5.5151
(flanking)-0.5570.896
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 increased37356wt: 0.8894 / mu: 0.9265 (marginal change - not scored)wt: ATTTGTTTTGTCTTCCAGTGGACCTAAGCGTTATGACTGGA
mu: ATTTGTTTTGTCTTCCAGTGGACCTAAGCCTTATGACTGGA		 gtgg|ACCT
Donor marginally increased37357wt: 0.9864 / mu: 0.9913 (marginal change - not scored)wt: AGTGGACCTAAGCGT
mu: AGTGGACCTAAGCCT		 TGGA|ccta
distance from splice site 7588
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features N/A
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)		 37365
chromosomal position
(for ins/del: last normal base / first normal base)		 71687539
original gDNA sequence snippet GTCTTCCAGTGGACCTAAGCGTTATGACTGGACTGGGAAAA
altered gDNA sequence snippet GTCTTCCAGTGGACCTAAGCCTTATGACTGGACTGGGAAAA
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 0.93 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