Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999999996685 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM960046)
  • known disease mutation: rs18178 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr16:30080705G>AN/A show variant in all transcripts   IGV
HGNC symbol ALDOA
Ensembl transcript ID ENST00000566897
Genbank transcript ID N/A
UniProt peptide P04075
alteration type single base exchange
alteration region CDS
DNA changes c.619G>A
cDNA.1771G>A
g.16295G>A
AA changes E207K Score: 56 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 207
frameshift no
known variant Reference ID: rs121909534
Allele 'A' was neither found in ExAC nor 1000G.
known disease mutation: rs18178 (pathogenic for HNSHA due to aldolase A deficiency) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM960046)

known disease mutation at this position, please check HGMD for details (HGMD ID CM960046)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960046)
regulatory features H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
PolII, Polymerase, RNA Polymerase II
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me1, Histone, Histone 3 Lysine 9 mono-methylation
H2BK5me1, Histone, Histone 2B Lysine 5 mono-methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
H3K79me2, Histone, Histone 3 Lysine 79 di-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.9170.064
5.8451
(flanking)4.8241
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased16295wt: 0.62 / mu: 0.90wt: TGACCGAGAAGGTAA
mu: TGACCAAGAAGGTAA		 ACCG|agaa
Donor marginally increased16300wt: 0.9670 / mu: 0.9784 (marginal change - not scored)wt: GAGAAGGTAAATGGC
mu: AAGAAGGTAAATGGC		 GAAG|gtaa
Donor gained162910.80mu: TATGTGACCAAGAAG TGTG|acca
distance from splice site 6
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      207DHDLKRCQYVTEKVLAAVYKALSD
mutated  all conserved    207DHDLKRCQYVTKKVLAAVYKALS
Ptroglodytes  all identical  ENSPTRG00000007983  207DHDLKRCQYVTEKVLAAVYKALS
Mmulatta  all identical  ENSMMUG00000000983  207DHDLKRCQYVTEKVLAAVYKALS
Fcatus  all identical  ENSFCAG00000014170  261YVTEKVLAAVYKALS
Mmusculus  all identical  ENSMUSG00000030695  261DHDLKRCQYVTEKVLAAVYKALS
Ggallus  no homologue    
Trubripes  all identical  ENSTRUG00000009525  207DHDLKRCQYVTEKVLAAVYKALS
Drerio  all identical  ENSDARG00000011665  207DHDLKRCQYVTEKVLAAVYKALS
Dmelanogaster  all identical  FBgn0000064  207DHDLDRAQKVTETVLAAVYKALS
Celegans  all identical  T05D4.1  207EHCLARGQKITETVLSYVYHALN
Xtropicalis  all identical  ENSXETG00000020674  221DHDLKRCQYVTEKVLAAVYKALS
protein features
start (aa)end (aa)featuredetails 
199219HELIXlost
223223MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
224226HELIXmight get lost (downstream of altered splice site)
230230ACT_SITESchiff-base intermediate with dihydroxyacetone-P.might get lost (downstream of altered splice site)
235235MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
241241MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
246258HELIXmight get lost (downstream of altered splice site)
267270STRANDmight get lost (downstream of altered splice site)
277289HELIXmight get lost (downstream of altered splice site)
296303STRANDmight get lost (downstream of altered splice site)
304314HELIXmight get lost (downstream of altered splice site)
312312MOD_RESN6-malonyllysine.might get lost (downstream of altered splice site)
318320HELIXmight get lost (downstream of altered splice site)
321338HELIXmight get lost (downstream of altered splice site)
330330MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
339341TURNmight get lost (downstream of altered splice site)
348350STRANDmight get lost (downstream of altered splice site)
354354MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
356356MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
364364SITENecessary for preference for fructose 1,6-bisphosphate over fructose 1- phosphate.might get lost (downstream of altered splice site)
364364MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1095 / 1095
position (AA) of stopcodon in wt / mu AA sequence 365 / 365
position of stopcodon in wt / mu cDNA 2247 / 2247
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 1153 / 1153
chromosome 16
strand 1
last intron/exon boundary 2152
theoretical NMD boundary in CDS 949
length of CDS 1095
coding sequence (CDS) position 619
cDNA position
(for ins/del: last normal base / first normal base)		 1771
gDNA position
(for ins/del: last normal base / first normal base)		 16295
chromosomal position
(for ins/del: last normal base / first normal base)		 30080705
original gDNA sequence snippet AGCGCTGCCAGTATGTGACCGAGAAGGTAAATGGCTACCTG
altered gDNA sequence snippet AGCGCTGCCAGTATGTGACCAAGAAGGTAAATGGCTACCTG
original cDNA sequence snippet AGCGCTGCCAGTATGTGACCGAGAAGGTGCTGGCTGCTGTC
altered cDNA sequence snippet AGCGCTGCCAGTATGTGACCAAGAAGGTGCTGGCTGCTGTC
wildtype AA sequence MPYQYPALTP EQKKELSDIA HRIVAPGKGI LAADESTGSI AKRLQSIGTE NTEENRRFYR
QLLLTADDRV NPCIGGVILF HETLYQKADD GRPFPQVIKS KGGVVGIKVD KGVVPLAGTN
GETTTQGLDG LSERCAQYKK DGADFAKWRC VLKIGEHTPS ALAIMENANV LARYASICQQ
NGIVPIVEPE ILPDGDHDLK RCQYVTEKVL AAVYKALSDH HIYLEGTLLK PNMVTPGHAC
TQKFSHEEIA MATVTALRRT VPPAVTGITF LSGGQSEEEA SINLNAINKC PLLKPWALTF
SYGRALQASA LKAWGGKKEN LKAAQEEYVK RALANSLACQ GKYTPSGQAG AAASESLFVS
NHAY*
mutated AA sequence MPYQYPALTP EQKKELSDIA HRIVAPGKGI LAADESTGSI AKRLQSIGTE NTEENRRFYR
QLLLTADDRV NPCIGGVILF HETLYQKADD GRPFPQVIKS KGGVVGIKVD KGVVPLAGTN
GETTTQGLDG LSERCAQYKK DGADFAKWRC VLKIGEHTPS ALAIMENANV LARYASICQQ
NGIVPIVEPE ILPDGDHDLK RCQYVTKKVL AAVYKALSDH HIYLEGTLLK PNMVTPGHAC
TQKFSHEEIA MATVTALRRT VPPAVTGITF LSGGQSEEEA SINLNAINKC PLLKPWALTF
SYGRALQASA LKAWGGKKEN LKAAQEEYVK RALANSLACQ GKYTPSGQAG AAASESLFVS
NHAY*
speed 0.48 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