Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999999989072      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM012595)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr17:4858392G>AN/A show variant in all transcripts   IGV
HGNC symbol ENO3
Ensembl transcript ID ENST00000519584
Genbank transcript ID NM_001193503
UniProt peptide P13929
alteration type single base exchange
alteration region CDS
DNA changes c.338G>A
cDNA.404G>A
g.7006G>A
AA changes G113D Score: 94 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 113
frameshift no
known variant Reference ID: rs121918403
databasehomozygous (A/A)heterozygousallele carriers
1000G011
ExAC02424

known disease mutation at this position, please check HGMD for details (HGMD ID CM012595)

known disease mutation at this position, please check HGMD for details (HGMD ID CM012595)
known disease mutation at this position, please check HGMD for details (HGMD ID CM012595)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)5.6541
5.6541
(flanking)-0.2350.965
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained70010.83mu: ATCAACGGGGACTCC CAAC|gggg
Donor gained70020.61mu: TCAACGGGGACTCCC AACG|ggga
distance from splice site 23
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      113LPVPAFNVINGGSHAGNKLAMQEF
mutated  not conserved    113LPVPAFNVINGDSHAGNKL
Ptroglodytes  all identical  ENSPTRG00000008617  156LPVPAFNVINGGSHAGNKLAMQE
Mmulatta  all identical  ENSMMUG00000012040  16SPSQAFNVINGGSHAGNKLAMQE
Fcatus  all identical  ENSFCAG00000001731  156LPVPAFNVINGGSHAGNKLAMQE
Mmusculus  all identical  ENSMUSG00000060600  156LPVPAFNVINGGSHAGNKLAMQE
Ggallus  no homologue    
Trubripes  all identical  ENSTRUG00000000959  51LPVPAFNVI-GGSHAGNKLAM
Drerio  all identical  ENSDARG00000039007  190LPVPAFNVINGGSHAGNKLAMQE
Dmelanogaster  all identical  FBgn0000579  223LPVPAFNVINGGSHAGNKLAMQE
Celegans  all identical  T21B10.2  187LPVPAFNVINGGSHAGNKLAMQE
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
108125HELIXlost
130138HELIXmight get lost (downstream of altered splice site)
150154STRANDmight get lost (downstream of altered splice site)
156158HELIXmight get lost (downstream of altered splice site)
158158BINDINGSubstrate (By similarity).might get lost (downstream of altered splice site)
159162STRANDmight get lost (downstream of altered splice site)
167167BINDINGSubstrate (By similarity).might get lost (downstream of altered splice site)
167171STRANDmight get lost (downstream of altered splice site)
178200HELIXmight get lost (downstream of altered splice site)
210210ACT_SITEProton donor (By similarity).might get lost (downstream of altered splice site)
220234HELIXmight get lost (downstream of altered splice site)
237239TURNmight get lost (downstream of altered splice site)
241245STRANDmight get lost (downstream of altered splice site)
245245METALMagnesium (By similarity).might get lost (downstream of altered splice site)
248251HELIXmight get lost (downstream of altered splice site)
259262TURNmight get lost (downstream of altered splice site)
267269HELIXmight get lost (downstream of altered splice site)
273286HELIXmight get lost (downstream of altered splice site)
289293STRANDmight get lost (downstream of altered splice site)
293293BINDINGSubstrate (By similarity).might get lost (downstream of altered splice site)
293293METALMagnesium (By similarity).might get lost (downstream of altered splice site)
301309HELIXmight get lost (downstream of altered splice site)
313318STRANDmight get lost (downstream of altered splice site)
318318METALMagnesium (By similarity).might get lost (downstream of altered splice site)
318318BINDINGSubstrate (By similarity).might get lost (downstream of altered splice site)
319323TURNmight get lost (downstream of altered splice site)
325334HELIXmight get lost (downstream of altered splice site)
338342STRANDmight get lost (downstream of altered splice site)
343343ACT_SITEProton acceptor (By similarity).might get lost (downstream of altered splice site)
344347HELIXmight get lost (downstream of altered splice site)
350362HELIXmight get lost (downstream of altered splice site)
366370STRANDmight get lost (downstream of altered splice site)
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 1176 / 1176
position (AA) of stopcodon in wt / mu AA sequence 392 / 392
position of stopcodon in wt / mu cDNA 1242 / 1242
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 67 / 67
chromosome 17
strand 1
last intron/exon boundary 1173
theoretical NMD boundary in CDS 1056
length of CDS 1176
coding sequence (CDS) position 338
cDNA position
(for ins/del: last normal base / first normal base)		 404
gDNA position
(for ins/del: last normal base / first normal base)		 7006
chromosomal position
(for ins/del: last normal base / first normal base)		 4858392
original gDNA sequence snippet CTTCAATGTGATCAACGGGGGCTCCCATGCTGGAAACAAGC
altered gDNA sequence snippet CTTCAATGTGATCAACGGGGACTCCCATGCTGGAAACAAGC
original cDNA sequence snippet CTTCAATGTGATCAACGGGGGCTCCCATGCTGGAAACAAGC
altered cDNA sequence snippet CTTCAATGTGATCAACGGGGACTCCCATGCTGGAAACAAGC
wildtype AA sequence MAMQKIFARE ILDSRGNPTV EVDLHTAKGR FRAAVPSGAS TGIYEALELR DGDKGRYLGK
AKFGANAILG VSLAVCKAGA AEKGVPLYRH IADLAGNPDL ILPVPAFNVI NGGSHAGNKL
AMQEFMILPV GASSFKEAMR IGAEVYHHLK GVIKAKYGKD ATNVGDEGGF APNILENNEA
LELLKTAIQA AGYPDKVVIG MDVAASEFYR NGKYDLDFKS PDDPARHITG EKLGELYKSF
IKNYPVVSIE DPFDQDDWAT WTSFLSGVNI QIVGDDLTVT NPKRIAQAVE KKACNCLLLK
VNQIGSVTES IQACKLAQSN GWGVMVSHRS GETEDTFIAD LVVGLCTGQI KTGAPCRSER
LAKYNQLMRI EEALGDKAIF AGRKFRNPKA K*
mutated AA sequence MAMQKIFARE ILDSRGNPTV EVDLHTAKGR FRAAVPSGAS TGIYEALELR DGDKGRYLGK
AKFGANAILG VSLAVCKAGA AEKGVPLYRH IADLAGNPDL ILPVPAFNVI NGDSHAGNKL
AMQEFMILPV GASSFKEAMR IGAEVYHHLK GVIKAKYGKD ATNVGDEGGF APNILENNEA
LELLKTAIQA AGYPDKVVIG MDVAASEFYR NGKYDLDFKS PDDPARHITG EKLGELYKSF
IKNYPVVSIE DPFDQDDWAT WTSFLSGVNI QIVGDDLTVT NPKRIAQAVE KKACNCLLLK
VNQIGSVTES IQACKLAQSN GWGVMVSHRS GETEDTFIAD LVVGLCTGQI KTGAPCRSER
LAKYNQLMRI EEALGDKAIF AGRKFRNPKA K*
speed 0.79 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