Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 2.82102899869664e-40 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr19:6156483T>CN/A show variant in all transcripts   IGV
HGNC symbol ACSBG2
Ensembl transcript ID ENST00000588485
Genbank transcript ID N/A
UniProt peptide Q5FVE4
alteration type single base exchange
alteration region intron
DNA changes g.21226T>C
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs4807840
databasehomozygous (C/C)heterozygousallele carriers
1000G12999682267
ExAC30689-286112078
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)4.130.995
4.1450.996
(flanking)-0.910.609
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites splice site change before start ATG (at aa -17) |
effectgDNA positionscoredetection sequence  exon-intron border
Donor marginally increased21218wt: 0.9859 / mu: 0.9930 (marginal change - not scored)wt: AACTCTGCCGAGGTT
mu: AACTCTGCCGAGGCT		 CTCT|gccg
Donor increased21223wt: 0.73 / mu: 0.86wt: TGCCGAGGTTTGTCA
mu: TGCCGAGGCTTGTCA		 CCGA|ggtt
distance from splice site 4677
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
7171CONFLICTA -> P (in Ref. 4; AAQ89126).might get lost (downstream of altered splice site)
230238NP_BINDATP (By similarity).might get lost (downstream of altered splice site)
332332CONFLICTK -> E (in Ref. 1; AAG49398).might get lost (downstream of altered splice site)
418423NP_BINDATP (By similarity).might get lost (downstream of altered splice site)
496496BINDINGATP (By similarity).might get lost (downstream of altered splice site)
511511MUTAGENH->R: Results in a shift of the pH optimum to a more acidic pH without affecting substrate specificity.might get lost (downstream of altered splice site)
595595CONFLICTI -> M (in Ref. 2; CAE12156/CAE12157 and 3; CAB66788).might get lost (downstream of altered splice site)
624624BINDINGATP (By similarity).might get lost (downstream of altered splice site)
length of protein N/A
AA sequence altered N/A
position of stopcodon in wt / mu CDS N/A
position (AA) of stopcodon in wt / mu AA sequence N/A
position of stopcodon in wt / mu cDNA N/A
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 582 / 582
chromosome 19
strand 1
last intron/exon boundary 2057
theoretical NMD boundary in CDS 1425
length of CDS 1440
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 N/A
gDNA position
(for ins/del: last normal base / first normal base)		 21226
chromosomal position
(for ins/del: last normal base / first normal base)		 6156483
original gDNA sequence snippet TGCCACCAACTCTGCCGAGGTTTGTCAATATGTCATCACTC
altered gDNA sequence snippet TGCCACCAACTCTGCCGAGGCTTGTCAATATGTCATCACTC
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MKKNNNLYSW DDFMELGRSI PDTQLEQVIE SQKANQCAVL IYTSGTTGIP KGVMLSHDNI
TWIAGAVTKD FKLTDKHETV VSYLPLSHIA AQMMDIWVPI KIGALTYFAQ ADALKGTLVS
TLKEVKPTVF IGVPQIWEKI HEMVKKNSAK SMGLKKKAFV WARNIGFKVN SKKMLGKYNT
PVSYRMAKTL VFSKVKTSLG LDHCHSFISG TAPLNQETAE FFLSLDIPIG ELYGLSESSG
PHTISNQNNY RLLSCGKILT GCKNMLFQQN KDGIGEICLW GRHIFMGYLE SETETTEAID
DEGWLHSGDL GQLDGLGFLY VTGHIKEILI TAGGENVPPI PVETLVKKKI PIISNAMLVG
DKLKFLSMLL TLKCEMNQMS GEPLDKLNFE AINFCRGLGS QASTVTEIVK QQDPLVYKAI
QQGINAVNQE AMNNAQRIEK WVILEKDFSI YGGELGPMMK LKRHFVAQKY KKQIDHMYH*
mutated AA sequence N/A
speed 0.12 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