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mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999999991379      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM002020)
  • known disease mutation at this position (HGMD CX163073)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr9:71687538C>TN/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.493C>T
cDNA.1017C>T
g.37364C>T
AA changes R165C Score: 180 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 165
frameshift no
known variant Reference ID: rs138034837
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation at this position, please check HGMD for details (HGMD ID CX163073)

known disease mutation at this position, please check HGMD for details (HGMD ID CX163073)
known disease mutation at this position, please check HGMD for details (HGMD ID CM002020)

known disease mutation at this position, please check HGMD for details (HGMD ID CX163073)
known disease mutation at this position, please check HGMD for details (HGMD ID CM002020)
known disease mutation at this position, please check HGMD for details (HGMD ID CM002020)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.2931
5.5151
(flanking)5.5151
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 increased37354wt: 0.7657 / mu: 0.7916 (marginal change - not scored)wt: GCATTTGTTTTGTCTTCCAGTGGACCTAAGCGTTATGACTG
mu: GCATTTGTTTTGTCTTCCAGTGGACCTAAGTGTTATGACTG		 cagt|GGAC
Donor marginally increased37357wt: 0.9864 / mu: 0.9958 (marginal change - not scored)wt: AGTGGACCTAAGCGT
mu: AGTGGACCTAAGTGT		 TGGA|ccta
distance from splice site 11
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      165IWLSSPSSGPKRYDWTGKNWVYSH
mutated  not conserved    165IWLSSPSSGPKCYDWTGKNWVYS
Ptroglodytes  no homologue    
Mmulatta  all identical  ENSMMUG00000000357  165IWLSSPSSGPKRYDWTGKNWVYS
Fcatus  all identical  ENSFCAG00000008813  163IWLSSP-SGPKRYDWTGESWVYA
Mmusculus  all identical  ENSMUSG00000059363  162IWLSSPSSGPKRYDWTGKNWVYS
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000074356  159IWLSSPTSGPKRYDWTGERWVYT
Dmelanogaster  all identical  FBgn0030092  143IWLSSPTSGPKRYDFVGTVAAGRWIYK
Celegans  all identical  F59G1.7  95IWLSSPMSGPKRYDLEEEGKWTYA
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
164168STRANDlost
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 493
cDNA position
(for ins/del: last normal base / first normal base)		 1017
gDNA position
(for ins/del: last normal base / first normal base)		 37364
chromosomal position
(for ins/del: last normal base / first normal base)		 71687538
original gDNA sequence snippet TGTCTTCCAGTGGACCTAAGCGTTATGACTGGACTGGGAAA
altered gDNA sequence snippet TGTCTTCCAGTGGACCTAAGTGTTATGACTGGACTGGGAAA
original cDNA sequence snippet CTCCATCCAGTGGACCTAAGCGTTATGACTGGACTGGGAAA
altered cDNA sequence snippet CTCCATCCAGTGGACCTAAGTGTTATGACTGGACTGGGAAA
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 SGPKCYDWTG KNWVYSHDGV
SLHELLAAEL TKALKTKLDL SSLAYSGKDA *
speed 1.34 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