Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999572654798605 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • 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 ENST00000252669
Genbank transcript ID NM_030924
UniProt peptide Q5FVE4
alteration type single base exchange
alteration region CDS
DNA changes c.428T>C
cDNA.670T>C
g.21226T>C
AA changes V143A Score: 64 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 143
frameshift no
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
effectgDNA positionscorewt detection 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 42
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      143CVGIYATNSAEVCQYVITHAKVNI
mutated  not conserved    143CVGIYATNSAEACQYVITHAKVN
Ptroglodytes  not conserved  ENSPTRG00000010354  143CVGIYATNSAEACQYVITHAKVN
Mmulatta  not conserved  ENSMMUG00000018937  93CVGIYATNSAEACQYVITHAKVN
Fcatus  not conserved  ENSFCAG00000012505  144XXXXXXXXXXXXXXXXXXXXXXX
Mmusculus  not conserved  ENSMUSG00000024207  139CVGIYATNSAEACQYVIQQANVS
Ggallus  not conserved  ENSGALG00000001749  132AVGIYTTNSPEACHYVAENCSAN
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000004094  251AVGIYTTNSPEACQY
Dmelanogaster  not conserved  FBgn0027348  139IAGIYTTNSADAVQHV
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000021876  202AVGIYTTNSAEACH
protein features
start (aa)end (aa)featuredetails 
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 normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2001 / 2001
position (AA) of stopcodon in wt / mu AA sequence 667 / 667
position of stopcodon in wt / mu cDNA 2243 / 2243
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 243 / 243
chromosome 19
strand 1
last intron/exon boundary 2279
theoretical NMD boundary in CDS 1986
length of CDS 2001
coding sequence (CDS) position 428
cDNA position
(for ins/del: last normal base / first normal base)		 670
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 TGCCACCAACTCTGCCGAGGTTTGTCAATATGTCATCACTC
altered cDNA sequence snippet TGCCACCAACTCTGCCGAGGCTTGTCAATATGTCATCACTC
wildtype AA sequence MTGTPKTQEG AKDLEVDMNK TEVTPRLWTT CRDGEVLLRL SKHGPGHETP MTIPEFFRES
VNRFGTYPAL ASKNGKKWEI LNFNQYYEAC RKAAKSLIKL GLERFHGVGI LGFNSAEWFI
TAVGAILAGG LCVGIYATNS AEVCQYVITH AKVNILLVEN DQQLQKILSI PQSSLEPLKA
IIQYRLPMKK NNNLYSWDDF MELGRSIPDT QLEQVIESQK ANQCAVLIYT SGTTGIPKGV
MLSHDNITWI AGAVTKDFKL TDKHETVVSY LPLSHIAAQM MDIWVPIKIG ALTYFAQADA
LKGTLVSTLK EVKPTVFIGV PQIWEKIHEM VKKNSAKSMG LKKKAFVWAR NIGFKVNSKK
MLGKYNTPVS YRMAKTLVFS KVKTSLGLDH CHSFISGTAP LNQETAEFFL SLDIPIGELY
GLSESSGPHT ISNQNNYRLL SCGKILTGCK NMLFQQNKDG IGEICLWGRH IFMGYLESET
ETTEAIDDEG WLHSGDLGQL DGLGFLYVTG HIKEILITAG GENVPPIPVE TLVKKKIPII
SNAMLVGDKL KFLSMLLTLK CEMNQMSGEP LDKLNFEAIN FCRGLGSQAS TVTEIVKQQD
PLVYKAIQQG INAVNQEAMN NAQRIEKWVI LEKDFSIYGG ELGPMMKLKR HFVAQKYKKQ
IDHMYH*
mutated AA sequence MTGTPKTQEG AKDLEVDMNK TEVTPRLWTT CRDGEVLLRL SKHGPGHETP MTIPEFFRES
VNRFGTYPAL ASKNGKKWEI LNFNQYYEAC RKAAKSLIKL GLERFHGVGI LGFNSAEWFI
TAVGAILAGG LCVGIYATNS AEACQYVITH AKVNILLVEN DQQLQKILSI PQSSLEPLKA
IIQYRLPMKK NNNLYSWDDF MELGRSIPDT QLEQVIESQK ANQCAVLIYT SGTTGIPKGV
MLSHDNITWI AGAVTKDFKL TDKHETVVSY LPLSHIAAQM MDIWVPIKIG ALTYFAQADA
LKGTLVSTLK EVKPTVFIGV PQIWEKIHEM VKKNSAKSMG LKKKAFVWAR NIGFKVNSKK
MLGKYNTPVS YRMAKTLVFS KVKTSLGLDH CHSFISGTAP LNQETAEFFL SLDIPIGELY
GLSESSGPHT ISNQNNYRLL SCGKILTGCK NMLFQQNKDG IGEICLWGRH IFMGYLESET
ETTEAIDDEG WLHSGDLGQL DGLGFLYVTG HIKEILITAG GENVPPIPVE TLVKKKIPII
SNAMLVGDKL KFLSMLLTLK CEMNQMSGEP LDKLNFEAIN FCRGLGSQAS TVTEIVKQQD
PLVYKAIQQG INAVNQEAMN NAQRIEKWVI LEKDFSIYGG ELGPMMKLKR HFVAQKYKKQ
IDHMYH*
speed 0.27 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