Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999949098044      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM042703)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr9:71687602T>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.557T>G
cDNA.1081T>G
g.37428T>G
AA changes L186R Score: 102 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 186
frameshift no
known variant Reference ID: rs148443992
Allele 'G' was neither found in ExAC nor 1000G.
known disease mutation at this position, please check HGMD for details (HGMD ID CM042703)

known disease mutation at this position, please check HGMD for details (HGMD ID CM042703)
known disease mutation at this position, please check HGMD for details (HGMD ID CM042703)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)3.791
4.4721
(flanking)1.5840.972
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: 0.2815 (marginal change - not scored)wt: CCACGACGGCGTGTCCCTCCATGAGCTGCTGGCCGCAGAGC
mu: CCACGACGGCGTGTCCCTCCATGAGCTGCGGGCCGCAGAGC		 tcca|TGAG
Acc marginally increased37422wt: 0.9675 / mu: 0.9766 (marginal change - not scored)wt: CGACGGCGTGTCCCTCCATGAGCTGCTGGCCGCAGAGCTCA
mu: CGACGGCGTGTCCCTCCATGAGCTGCGGGCCGCAGAGCTCA		 atga|GCTG
Acc increased37420wt: 0.53 / mu: 0.77wt: CACGACGGCGTGTCCCTCCATGAGCTGCTGGCCGCAGAGCT
mu: CACGACGGCGTGTCCCTCCATGAGCTGCGGGCCGCAGAGCT		 ccat|GAGC
Donor gained374220.95mu: CCATGAGCTGCGGGC ATGA|gctg
distance from splice site 75
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      186YSHDGVSLHELLAAELTKALKTKL
mutated  not conserved    186SLHELRAAELTKALKTK
Ptroglodytes  no homologue    
Mmulatta  all identical  ENSMMUG00000000357  186SLHELLGAELTKALKTK
Fcatus  all identical  ENSFCAG00000008813  183HQLLTTELTEALKTE
Mmusculus  all identical  ENSMUSG00000059363  183SLHELLARELTKALNTK
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000074356  180YTHDAVPLHSLLSKELSIIFKTN
Dmelanogaster  all identical  FBgn0030092  164YKHSGQSLHELLQQEIPGILKSQS
Celegans  all identical  F59G1.7  116YAHDGEQLDSLLNREFRKIL
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 557
cDNA position
(for ins/del: last normal base / first normal base)		 1081
gDNA position
(for ins/del: last normal base / first normal base)		 37428
chromosomal position
(for ins/del: last normal base / first normal base)		 71687602
original gDNA sequence snippet CGTGTCCCTCCATGAGCTGCTGGCCGCAGAGCTCACTAAAG
altered gDNA sequence snippet CGTGTCCCTCCATGAGCTGCGGGCCGCAGAGCTCACTAAAG
original cDNA sequence snippet CGTGTCCCTCCATGAGCTGCTGGCCGCAGAGCTCACTAAAG
altered cDNA sequence snippet CGTGTCCCTCCATGAGCTGCGGGCCGCAGAGCTCACTAAAG
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
SLHELRAAEL TKALKTKLDL SSLAYSGKDA *
speed 1.08 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