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mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999997830803347      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM993651)
  • protein features (might be) affected
  • splice site changes
 hyperlink
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 ENST00000377270
Genbank transcript ID NM_000144
UniProt peptide Q16595
alteration type single base exchange
alteration region CDS
DNA changes c.548A>G
cDNA.1072A>G
g.37419A>G
AA changes H183R Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 183
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      183NWVYSHDGVSLHELLAAELTKALK
mutated  not conserved    183SLRELLAAELTKAL
Ptroglodytes  no homologue    
Mmulatta  all identical  ENSMMUG00000000357  183SLHELLGAELTKAL
Fcatus  all identical  ENSFCAG00000008813  180HQLLTTELTEAL
Mmusculus  all identical  ENSMUSG00000059363  180SLHELLARELTKAL
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000074356  177RWVYTHDAVPLHSLLSKELSIIF
Dmelanogaster  all identical  FBgn0030092  161RWIYKHSGQSLHELLQQEIPGIL
Celegans  not conserved  F59G1.7  113KWTYAHDGEQLDSLLNREFRKIL
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 633 / 633
position (AA) of stopcodon in wt / mu AA sequence 211 / 211
position of stopcodon in wt / mu cDNA 1157 / 1157
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 525 / 525
chromosome 9
strand 1
last intron/exon boundary 1007
theoretical NMD boundary in CDS 432
length of CDS 633
coding sequence (CDS) position 548
cDNA position
(for ins/del: last normal base / first normal base)		 1072
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 SGPKRYDWTG KNWVYSHDGV
SLHELLAAEL TKALKTKLDL SSLAYSGKDA *
mutated AA sequence MWTLGRRAVA GLLASPSPAQ AQTLTRVPRP AELAPLCGRR GLRTDIDATC TPRRASSNQR
GLNQIWNVKK QSVYLMNLRK SGTLGHPGSL DETTYERLAE ETLDSLAEFF EDLADKPYTF
EDYDVSFGSG VLTVKLGGDL GTYVINKQTP NKQIWLSSPS SGPKRYDWTG KNWVYSHDGV
SLRELLAAEL TKALKTKLDL SSLAYSGKDA *
speed 0.76 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