Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999994663033      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM012596)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr17:4859921G>AN/A show variant in all transcripts   IGV
HGNC symbol ENO3
Ensembl transcript ID ENST00000518175
Genbank transcript ID N/A
UniProt peptide P13929
alteration type single base exchange
alteration region CDS
DNA changes c.1121G>A
cDNA.1193G>A
g.8535G>A
AA changes G374E Score: 98 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 374
frameshift no
known variant Reference ID: rs121918404
databasehomozygous (A/A)heterozygousallele carriers
1000G---
ExAC02727

known disease mutation at this position, please check HGMD for details (HGMD ID CM012596)

known disease mutation at this position, please check HGMD for details (HGMD ID CM012596)
known disease mutation at this position, please check HGMD for details (HGMD ID CM012596)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
Gene Associated, Regulatory Feature, Gene associated regulatory feature
CTCF, Transcription Factor, CCCTC-binding factor
DNase1, Open Chromatin, DNase1 Hypersensitive Site
phyloP / phastCons
PhyloPPhastCons
(flanking)5.4991
3.9031
(flanking)-0.220.967
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 increased8533wt: 0.9408 / mu: 0.9842 (marginal change - not scored)wt: CGCTCTGGGGAGACT
mu: CGCTCTGAGGAGACT		 CTCT|gggg
Donor gained85300.39mu: CACCGCTCTGAGGAG CCGC|tctg
Donor gained85350.67mu: CTCTGAGGAGACTGA CTGA|ggag
distance from splice site 54
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      374NGWGVMVSHRSGETEDTFIADLVV
mutated  not conserved    374NGWGVMVSHRSEETEDTFIADLV
Ptroglodytes  all identical  ENSPTRG00000008617  374NGWGVMVSHRSGETEDTFIADLV
Mmulatta  all identical  ENSMMUG00000012040  234NGWGVMVSHRSGETEDTF
Fcatus  all identical  ENSFCAG00000001731  374NGWGVMVSHRSGETEDTFIADLV
Mmusculus  all identical  ENSMUSG00000060600  374NGWGVMVSHRSGETEDTFIADLV
Ggallus  no homologue    
Trubripes  all identical  ENSTRUG00000000959  267SGWGVMVSHRSGETEDTFISDLV
Drerio  all identical  ENSDARG00000039007  408NGWGVMVSHRSGETEDTFIADLV
Dmelanogaster  all identical  FBgn0000579  442NGWGTMVSHRSGETEDSFIGDLV
Celegans  all identical  T21B10.2  406NGWGVMVSHRSGETEDTFIADLV
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
370373REGIONSubstrate binding (By similarity).might get lost (downstream of altered splice site)
380388HELIXmight get lost (downstream of altered splice site)
391394STRANDmight get lost (downstream of altered splice site)
394394BINDINGSubstrate (By similarity).might get lost (downstream of altered splice site)
401417HELIXmight get lost (downstream of altered splice site)
418420HELIXmight get lost (downstream of altered splice site)
425427HELIXmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1305 / 1305
position (AA) of stopcodon in wt / mu AA sequence 435 / 435
position of stopcodon in wt / mu cDNA 1377 / 1377
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 73 / 73
chromosome 17
strand 1
last intron/exon boundary 1308
theoretical NMD boundary in CDS 1185
length of CDS 1305
coding sequence (CDS) position 1121
cDNA position
(for ins/del: last normal base / first normal base)		 1193
gDNA position
(for ins/del: last normal base / first normal base)		 8535
chromosomal position
(for ins/del: last normal base / first normal base)		 4859921
original gDNA sequence snippet GATGGTGAGCCACCGCTCTGGGGAGACTGAGGACACATTCA
altered gDNA sequence snippet GATGGTGAGCCACCGCTCTGAGGAGACTGAGGACACATTCA
original cDNA sequence snippet GATGGTGAGCCACCGCTCTGGGGAGACTGAGGACACATTCA
altered cDNA sequence snippet GATGGTGAGCCACCGCTCTGAGGAGACTGAGGACACATTCA
wildtype AA sequence MAMQKIFARE ILDSRGNPTV EVDLHTAKGR FRAAVPSGAS TGIYEALELR DGDKGRYLGK
GVLKAVENIN NTLGPALLQK KLSVVDQEKV DKFMIELDGT ENKSKFGANA ILGVSLAVCK
AGAAEKGVPL YRHIADLAGN PDLILPVPAF NVINGGSHAG NKLAMQEFMI LPVGASSFKE
AMRIGAEVYH HLKGVIKAKY GKDATNVGDE GGFAPNILEN NEALELLKTA IQAAGYPDKV
VIGMDVAASE FYRNGKYDLD FKSPDDPARH ITGEKLGELY KSFIKNYPVV SIEDPFDQDD
WATWTSFLSG VNIQIVGDDL TVTNPKRIAQ AVEKKACNCL LLKVNQIGSV TESIQACKLA
QSNGWGVMVS HRSGETEDTF IADLVVGLCT GQIKTGAPCR SERLAKYNQL MRIEEALGDK
AIFAGRKFRN PKAK*
mutated AA sequence MAMQKIFARE ILDSRGNPTV EVDLHTAKGR FRAAVPSGAS TGIYEALELR DGDKGRYLGK
GVLKAVENIN NTLGPALLQK KLSVVDQEKV DKFMIELDGT ENKSKFGANA ILGVSLAVCK
AGAAEKGVPL YRHIADLAGN PDLILPVPAF NVINGGSHAG NKLAMQEFMI LPVGASSFKE
AMRIGAEVYH HLKGVIKAKY GKDATNVGDE GGFAPNILEN NEALELLKTA IQAAGYPDKV
VIGMDVAASE FYRNGKYDLD FKSPDDPARH ITGEKLGELY KSFIKNYPVV SIEDPFDQDD
WATWTSFLSG VNIQIVGDDL TVTNPKRIAQ AVEKKACNCL LLKVNQIGSV TESIQACKLA
QSNGWGVMVS HRSEETEDTF IADLVVGLCT GQIKTGAPCR SERLAKYNQL MRIEEALGDK
AIFAGRKFRN PKAK*
speed 0.61 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