Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999999593777 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM980002)
  • known disease mutation: rs16216 (pathogenic)
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr16:8862105G>AN/A show variant in all transcripts   IGV
HGNC symbol ABAT
Ensembl transcript ID ENST00000567812
Genbank transcript ID N/A
UniProt peptide P80404
alteration type single base exchange
alteration region CDS
DNA changes c.704G>A
cDNA.966G>A
g.93684G>A
AA changes R235K Score: 26 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 235
frameshift no
known variant Reference ID: rs121434578
Allele 'A' was neither found in ExAC nor 1000G.
known disease mutation: rs16216 (pathogenic for Gamma-aminobutyric acid transaminase deficiency) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM980002)

known disease mutation at this position, please check HGMD for details (HGMD ID CM980002)
known disease mutation at this position, please check HGMD for details (HGMD ID CM980002)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)3.2241
5.9321
(flanking)0.6141
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased93681wt: 0.7211 / mu: 0.7348 (marginal change - not scored)wt: CTTCATGGGCGCGTTCCATGGGAGGACCATGGGTAAGGAGG
mu: CTTCATGGGCGCGTTCCATGGGAAGACCATGGGTAAGGAGG		 atgg|GAGG
Donor marginally increased93679wt: 0.9578 / mu: 0.9984 (marginal change - not scored)wt: TTCCATGGGAGGACC
mu: TTCCATGGGAAGACC		 CCAT|ggga
distance from splice site 9
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      235SILSFMGAFHGRTMGCLATTHSKA
mutated  all conserved    235SILSFMGAFHGKTMGCL
Ptroglodytes  all identical  ENSPTRG00000007746  220SILSFMGAFHGRTMGCLATTHSK
Mmulatta  no homologue    
Fcatus  all identical  ENSFCAG00000001435  220SILSFMGAFHGRTLGCLATTHSK
Mmusculus  all identical  ENSMUSG00000057880  220SILSFMGAFHGRTMGCLATTHSK
Ggallus  all identical  ENSGALG00000007334  220AMLSFMGGFHGRTFGCLATTHSK
Trubripes  all identical  ENSTRUG00000010349  202SILSFMGAFHGRTMGCLATTHSK
Drerio  all identical  ENSDARG00000006031  220SILSFMGAFHGRTLGCLATTHSK
Dmelanogaster  all identical  FBgn0036927  208SILSFKGAFHGRTL
Celegans  all identical  K04D7.3  204SVMGFEGAFHGRSL
Xtropicalis  all identical  ENSXETG00000008691  220SILSFMGGFHGRTMGCLATTHSK
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1548 / 1548
position (AA) of stopcodon in wt / mu AA sequence 516 / 516
position of stopcodon in wt / mu cDNA 1810 / 1810
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 263 / 263
chromosome 16
strand 1
last intron/exon boundary 1689
theoretical NMD boundary in CDS 1376
length of CDS 1548
coding sequence (CDS) position 704
cDNA position
(for ins/del: last normal base / first normal base)		 966
gDNA position
(for ins/del: last normal base / first normal base)		 93684
chromosomal position
(for ins/del: last normal base / first normal base)		 8862105
original gDNA sequence snippet CATGGGCGCGTTCCATGGGAGGACCATGGGTAAGGAGGGAC
altered gDNA sequence snippet CATGGGCGCGTTCCATGGGAAGACCATGGGTAAGGAGGGAC
original cDNA sequence snippet CATGGGCGCGTTCCATGGGAGGACCATGGGTTGCTTAGCGA
altered cDNA sequence snippet CATGGGCGCGTTCCATGGGAAGACCATGGGTTGCTTAGCGA
wildtype AA sequence MWWQHAKGVP VPQGVMASML LAQRLACSFQ HSYRLLVPGS RHISQAAAKV DVEFDYDGPL
MKTEVPGPRS QELMKQLNII QNAEAVHFFC NYEESRGNYL VDVDGNRMLD LYSQISSVPI
GYSHPALLKL IQQPQNASMF VNRPALGILP PENFVEKLRQ SLLSVAPKGM SQLITMACGS
CSNENALKTI FMWYRSKERG QRGFSQEELE TCMINQAPGC PDYSILSFMG AFHGRTMGCL
ATTHSKAIHK IDIPSFDWPI APFPRLKYPL EEFVKENQQE EARCLEEVED LIVKYRKKKK
TVAGIIVEPI QSEGGDNHAS DDFFRKLRDI ARKHGCAFLV DEVQTGGGCT GKFWAHEHWG
LDDPADVMTF SKKMMTGGFF HKEEFRPNAP YRIFNTWLGD PSKNLLLAEV INIIKREDLL
NNAAHAGKAL LTGLLDLQAR YPQFISRVRG RGTFCSFDTP DDSIRNKLIL IARNKGVVLG
GCGDKSIRFR PTLVFRDHHA HLFLNIFSDI LADFK*
mutated AA sequence MWWQHAKGVP VPQGVMASML LAQRLACSFQ HSYRLLVPGS RHISQAAAKV DVEFDYDGPL
MKTEVPGPRS QELMKQLNII QNAEAVHFFC NYEESRGNYL VDVDGNRMLD LYSQISSVPI
GYSHPALLKL IQQPQNASMF VNRPALGILP PENFVEKLRQ SLLSVAPKGM SQLITMACGS
CSNENALKTI FMWYRSKERG QRGFSQEELE TCMINQAPGC PDYSILSFMG AFHGKTMGCL
ATTHSKAIHK IDIPSFDWPI APFPRLKYPL EEFVKENQQE EARCLEEVED LIVKYRKKKK
TVAGIIVEPI QSEGGDNHAS DDFFRKLRDI ARKHGCAFLV DEVQTGGGCT GKFWAHEHWG
LDDPADVMTF SKKMMTGGFF HKEEFRPNAP YRIFNTWLGD PSKNLLLAEV INIIKREDLL
NNAAHAGKAL LTGLLDLQAR YPQFISRVRG RGTFCSFDTP DDSIRNKLIL IARNKGVVLG
GCGDKSIRFR PTLVFRDHHA HLFLNIFSDI LADFK*
speed 1.22 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