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mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.590944651026341      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM993651)
  • protein features (might be) affected
  • splice site changes
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analysed issue analysis result
name of alteration no title
alteration (phys. location) chr9:71687593A>GN/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.556A>G
cDNA.577A>G
g.37419A>G
AA changes M186V Score: 21 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 186
frameshift no
known variant Reference ID: rs144610605
Allele 'G' was neither found in ExAC nor 1000G.
known disease mutation at this position, please check HGMD for details (HGMD ID CM993651)

known disease mutation at this position, please check HGMD for details (HGMD ID CM993651)
known disease mutation at this position, please check HGMD for details (HGMD ID CM993651)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)3.8231
4.4721
(flanking)-0.2080.929
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 increased37422wt: 0.9675 / mu: 0.9721 (marginal change - not scored)wt: CGACGGCGTGTCCCTCCATGAGCTGCTGGCCGCAGAGCTCA
mu: CGACGGCGTGTCCCTCCGTGAGCTGCTGGCCGCAGAGCTCA		 atga|GCTG
Acc increased37418wt: 0.22 / mu: 0.56wt: CCCACGACGGCGTGTCCCTCCATGAGCTGCTGGCCGCAGAG
mu: CCCACGACGGCGTGTCCCTCCGTGAGCTGCTGGCCGCAGAG		 ctcc|ATGA
Acc marginally increased37420wt: 0.5334 / mu: 0.5402 (marginal change - not scored)wt: CACGACGGCGTGTCCCTCCATGAGCTGCTGGCCGCAGAGCT
mu: CACGACGGCGTGTCCCTCCGTGAGCTGCTGGCCGCAGAGCT		 ccat|GAGC
distance from splice site 66
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      186TGCTPTTACPSMSCWPQSSLKP*
mutated  all conserved    186TACPSVSCWPQSSLKP
Ptroglodytes  no homologue    
Mmulatta  no alignment  ENSMMUG00000000357  n/a
Fcatus  no alignment  ENSFCAG00000008813  n/a
Mmusculus  no alignment  ENSMUSG00000059363  n/a
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no alignment  ENSDARG00000074356  n/a
Dmelanogaster  no alignment  FBgn0030092  n/a
Celegans  no alignment  F59G1.7  n/a
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
182194HELIXlost
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 556
cDNA position
(for ins/del: last normal base / first normal base)		 577
gDNA position
(for ins/del: last normal base / first normal base)		 37419
chromosomal position
(for ins/del: last normal base / first normal base)		 71687593
original gDNA sequence snippet CCACGACGGCGTGTCCCTCCATGAGCTGCTGGCCGCAGAGC
altered gDNA sequence snippet CCACGACGGCGTGTCCCTCCGTGAGCTGCTGGCCGCAGAGC
original cDNA sequence snippet CCACGACGGCGTGTCCCTCCATGAGCTGCTGGCCGCAGAGC
altered cDNA sequence snippet CCACGACGGCGTGTCCCTCCGTGAGCTGCTGGCCGCAGAGC
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
EDYDVSFGSG VLTVKLGGDL GTYVINKQTP NKQIWLSSPS RYVVDLSVMT GLGKTGCTPT
TACPSVSCWP QSSLKP*
speed 0.80 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