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mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.99999991209933      (explain)
Summary
  • amino acid sequence changed
  • 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 ENST00000377270
Genbank transcript ID NM_000144
UniProt peptide Q16595
alteration type single base exchange
alteration region CDS
DNA changes c.545T>A
cDNA.1069T>A
g.37416T>A
AA changes L182H Score: 99 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 182
frameshift no
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 63
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      182KNWVYSHDGVSLHELLAAELTKAL
mutated  not conserved    182SHHELLAAELTKA
Ptroglodytes  no homologue    
Mmulatta  all identical  ENSMMUG00000000357  182SLHELLGAELTKA
Fcatus  all identical  ENSFCAG00000008813  180ESWVYAHDGVSLHQLLTTELTEA
Mmusculus  all identical  ENSMUSG00000059363  179SLHELLARELTKA
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000074356  176ERWVYTHDAVPLHSLLSKELSII
Dmelanogaster  all identical  FBgn0030092  160TVAAGRWIYKHSGQSLHELLQQEIPGI
Celegans  all identical  F59G1.7  112EGKWTYAHDGEQLDSLLNREFRKI
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 545
cDNA position
(for ins/del: last normal base / first normal base)		 1069
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 CTCCCACGACGGCGTGTCCCTCCATGAGCTGCTGGCCGCAG
altered cDNA sequence snippet CTCCCACGACGGCGTGTCCCACCATGAGCTGCTGGCCGCAG
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
SHHELLAAEL TKALKTKLDL SSLAYSGKDA *
speed 1.05 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