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mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999999925542      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM1010110)
  • known disease mutation at this position (HGMD CP005275)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr18:55217985A>CN/A show variant in all transcripts   IGV
HGNC symbol FECH
Ensembl transcript ID ENST00000262093
Genbank transcript ID NM_000140
UniProt peptide P22830
alteration type single base exchange
alteration region CDS
DNA changes c.1231T>G
cDNA.1383T>G
g.36020T>G
AA changes C411G Score: 159 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 411
frameshift no
known variant Reference ID: rs146899669
databasehomozygous (C/C)heterozygousallele carriers
1000G---
ExAC022

known disease mutation at this position, please check HGMD for details (HGMD ID CP005275)

known disease mutation at this position, please check HGMD for details (HGMD ID CP005275)
known disease mutation at this position, please check HGMD for details (HGMD ID CM1010110)

known disease mutation at this position, please check HGMD for details (HGMD ID CP005275)
known disease mutation at this position, please check HGMD for details (HGMD ID CM1010110)
known disease mutation at this position, please check HGMD for details (HGMD ID CP005275)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)5.7481
4.7591
(flanking)3.9661
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 increased36016wt: 0.5367 / mu: 0.5496 (marginal change - not scored)wt: TGTCCGCTCTGTGTCAATCCTGTCTGCAGGGAGACTAAATC
mu: TGTCCGCTCTGTGTCAATCCTGTCGGCAGGGAGACTAAATC		 tcct|GTCT
Acc marginally increased36015wt: 0.2609 / mu: 0.3020 (marginal change - not scored)wt: CTGTCCGCTCTGTGTCAATCCTGTCTGCAGGGAGACTAAAT
mu: CTGTCCGCTCTGTGTCAATCCTGTCGGCAGGGAGACTAAAT		 atcc|TGTC
Donor gained360190.31mu: CCTGTCGGCAGGGAG TGTC|ggca
distance from splice site 94
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      411TLSCPLCVNPVCRETKSFFTSQQL
mutated  not conserved    411TLSCPLCVNPVGRETKSFFTS
Ptroglodytes  no homologue    
Mmulatta  all identical  ENSMMUG00000022568  417TLSCPLCVNPVCRET
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000024588  410SLNCPLCVNPVCRKTKSFFTS
Ggallus  all identical  ENSGALG00000003066  401TLCCPLCVNPVCRETKAFFTNQQ
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000003462  397TLRCPLCVNPTCAQTKAFFSSQK
Dmelanogaster  all identical  FBgn0024891  371LMRCPMCSNPKCRESKSWY
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000020888  405TLRCPMCVNPVCGEAKSFFTKQQ
protein features
start (aa)end (aa)featuredetails 
410419HELIXlost
411411METALIron-sulfur (2Fe-2S).lost
411411MUTAGENC->H,S: Loss of activity.lost
417417MUTAGENF->L: Decreased activity.might get lost (downstream of altered splice site)
417417MUTAGENF->Y,W: Greatly reduced activity.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1272 / 1272
position (AA) of stopcodon in wt / mu AA sequence 424 / 424
position of stopcodon in wt / mu cDNA 1424 / 1424
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 153 / 153
chromosome 18
strand -1
last intron/exon boundary 1290
theoretical NMD boundary in CDS 1087
length of CDS 1272
coding sequence (CDS) position 1231
cDNA position
(for ins/del: last normal base / first normal base)		 1383
gDNA position
(for ins/del: last normal base / first normal base)		 36020
chromosomal position
(for ins/del: last normal base / first normal base)		 55217985
original gDNA sequence snippet CGCTCTGTGTCAATCCTGTCTGCAGGGAGACTAAATCCTTC
altered gDNA sequence snippet CGCTCTGTGTCAATCCTGTCGGCAGGGAGACTAAATCCTTC
original cDNA sequence snippet CGCTCTGTGTCAATCCTGTCTGCAGGGAGACTAAATCCTTC
altered cDNA sequence snippet CGCTCTGTGTCAATCCTGTCGGCAGGGAGACTAAATCCTTC
wildtype AA sequence MRSLGANMAA ALRAAGVLLR DPLASSSWRV CQPWRWKSGA AAAAVTTETA QHAQGAKPQV
QPQKRKPKTG ILMLNMGGPE TLGDVHDFLL RLFLDRDLMT LPIQNKLAPF IAKRRTPKIQ
EQYRRIGGGS PIKIWTSKQG EGMVKLLDEL SPNTAPHKYY IGFRYVHPLT EEAIEEMERD
GLERAIAFTQ YPQYSCSTTG SSLNAIYRYY NQVGRKPTMK WSTIDRWPTH HLLIQCFADH
ILKELDHFPL EKRSEVVILF SAHSLPMSVV NRGDPYPQEV SATVQKVMER LEYCNPYRLV
WQSKVGPMPW LGPQTDESIK GLCERGRKNI LLVPIAFTSD HIETLYELDI EYSQVLAKEC
GVENIRRAES LNGNPLFSKA LADLVHSHIQ SNELCSKQLT LSCPLCVNPV CRETKSFFTS
QQL*
mutated AA sequence MRSLGANMAA ALRAAGVLLR DPLASSSWRV CQPWRWKSGA AAAAVTTETA QHAQGAKPQV
QPQKRKPKTG ILMLNMGGPE TLGDVHDFLL RLFLDRDLMT LPIQNKLAPF IAKRRTPKIQ
EQYRRIGGGS PIKIWTSKQG EGMVKLLDEL SPNTAPHKYY IGFRYVHPLT EEAIEEMERD
GLERAIAFTQ YPQYSCSTTG SSLNAIYRYY NQVGRKPTMK WSTIDRWPTH HLLIQCFADH
ILKELDHFPL EKRSEVVILF SAHSLPMSVV NRGDPYPQEV SATVQKVMER LEYCNPYRLV
WQSKVGPMPW LGPQTDESIK GLCERGRKNI LLVPIAFTSD HIETLYELDI EYSQVLAKEC
GVENIRRAES LNGNPLFSKA LADLVHSHIQ SNELCSKQLT LSCPLCVNPV GRETKSFFTS
QQL*
speed 1.14 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