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mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999989313495      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM994352)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr9:71679932T>CN/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.463T>C
cDNA.484T>C
g.29758T>C
AA changes W155R Score: 101 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 155
frameshift no
known variant Reference ID: rs138471431
Allele 'C' was neither found in ExAC nor 1000G.
known disease mutation at this position, please check HGMD for details (HGMD ID CM994352)

known disease mutation at this position, please check HGMD for details (HGMD ID CM994352)
known disease mutation at this position, please check HGMD for details (HGMD ID CM994352)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.6241
4.7271
(flanking)5.7261
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased29750wt: 0.9924 / mu: 0.9977 (marginal change - not scored)wt: AAACAAGCAAATCTG
mu: AAACAAGCAAATCCG		 ACAA|gcaa
Donor marginally increased29749wt: 0.7899 / mu: 0.8198 (marginal change - not scored)wt: CAAACAAGCAAATCT
mu: CAAACAAGCAAATCC		 AACA|agca
Donor gained297590.37mu: AATCCGGCTATCTTC TCCG|gcta
distance from splice site 28
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      155VINKQTPNKQIWLSSPSRYVVDLS
mutated  not conserved    155VINKQTPNKQIRLSSPSRYVVDL
Ptroglodytes  no homologue    
Mmulatta  all identical  ENSMMUG00000000357  155VINKQTPNKQIWLSSPS
Fcatus  all identical  ENSFCAG00000008813  153VINKQTPNKQIWLSSPS
Mmusculus  all identical  ENSMUSG00000059363  152VINKQTPNKQIWLSSPS
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000074356  149NKQTPNRQIWLSSPT
Dmelanogaster  all identical  FBgn0030092  133TPNKQIWLSSPT
Celegans  all identical  F59G1.7  85KQIWLSSP
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
153157STRANDlost
159161STRANDmight get lost (downstream of altered splice site)
164168STRANDmight get lost (downstream of altered splice site)
170175STRANDmight get lost (downstream of altered splice site)
175175CONFLICTY -> F (in Ref. 1; AAA98508/AAA98510).might get lost (downstream of altered splice site)
176178TURNmight get lost (downstream of altered splice site)
182194HELIXmight get lost (downstream of altered splice site)
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 463
cDNA position
(for ins/del: last normal base / first normal base)		 484
gDNA position
(for ins/del: last normal base / first normal base)		 29758
chromosomal position
(for ins/del: last normal base / first normal base)		 71679932
original gDNA sequence snippet AGACGCCAAACAAGCAAATCTGGCTATCTTCTCCATCCAGG
altered gDNA sequence snippet AGACGCCAAACAAGCAAATCCGGCTATCTTCTCCATCCAGG
original cDNA sequence snippet AGACGCCAAACAAGCAAATCTGGCTATCTTCTCCATCCAGG
altered cDNA sequence snippet AGACGCCAAACAAGCAAATCCGGCTATCTTCTCCATCCAGG
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 NKQIRLSSPS RYVVDLSVMT GLGKTGCTPT
TACPSMSCWP QSSLKP*
speed 0.95 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