Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999994400525      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM993561)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr3:15686570T>GN/A show variant in all transcripts   IGV
HGNC symbol BTD
Ensembl transcript ID ENST00000449107
Genbank transcript ID N/A
UniProt peptide P43251
alteration type single base exchange
alteration region CDS
DNA changes c.1213T>G
cDNA.1301T>G
g.43723T>G
AA changes F405V Score: 50 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 405
frameshift no
known variant Reference ID: rs104893686
Allele 'G' was neither found in ExAC nor 1000G.
known disease mutation at this position, please check HGMD for details (HGMD ID CM993561)

known disease mutation at this position, please check HGMD for details (HGMD ID CM993561)
known disease mutation at this position, please check HGMD for details (HGMD ID CM993561)
regulatory features H2BK12ac, Histone, Histone 2B Lysine 12 Acetylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K91ac, Histone, Histone 4 Lysine 91 Acetylation
H3K27ac, Histone, Histone 3 Lysine 27 Acetylation
H3K4me1, Histone, Histone 3 Lysine 4 Mono-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.4950.889
51
(flanking)3.3331
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained437170.88mu: TGTATGACAATGTCA TATG|acaa
distance from splice site 520
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      405PTFHSEMMYDNFTLVPVWGKEGYL
mutated  not conserved    405PTFHSEMMYDNVTLVPVWGKEGY
Ptroglodytes  all identical  ENSPTRG00000014668  403PTFHSEMMYDNFTLVPVWGKEGY
Mmulatta  all identical  ENSMMUG00000020762  299PTFHSEMMYDNFTLVPVWGKEGY
Fcatus  all identical  ENSFCAG00000011306  388PVFHSEMMYDNFTLVPVWGKEGY
Mmusculus  all identical  ENSMUSG00000021900  389PTFHSEMMYDNFTLVPVWGTEGH
Ggallus  all identical  ENSGALG00000011216  377PLFYAEMMYDNFTFVPVWAEKG
Trubripes  all identical  ENSTRUG00000014869  373PVFVSSMMYDPFTFALLNATDG
Drerio  all identical  ENSDARG00000006926  379-SFNSIMMHDNFTL
Dmelanogaster  not conserved  FBgn0040069  347ENYESELLKLD------EGTSGA
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000008991  374SEFQAEMMYDNFTFIPLAAVEGA
protein features
start (aa)end (aa)featuredetails 
402402CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
489489CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1638 / 1638
position (AA) of stopcodon in wt / mu AA sequence 546 / 546
position of stopcodon in wt / mu cDNA 1726 / 1726
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 89 / 89
chromosome 3
strand 1
last intron/exon boundary 554
theoretical NMD boundary in CDS 415
length of CDS 1638
coding sequence (CDS) position 1213
cDNA position
(for ins/del: last normal base / first normal base)		 1301
gDNA position
(for ins/del: last normal base / first normal base)		 43723
chromosomal position
(for ins/del: last normal base / first normal base)		 15686570
original gDNA sequence snippet CTGAGATGATGTATGACAATTTCACCCTGGTCCCTGTCTGG
altered gDNA sequence snippet CTGAGATGATGTATGACAATGTCACCCTGGTCCCTGTCTGG
original cDNA sequence snippet CTGAGATGATGTATGACAATTTCACCCTGGTCCCTGTCTGG
altered cDNA sequence snippet CTGAGATGATGTATGACAATGTCACCCTGGTCCCTGTCTGG
wildtype AA sequence MPEGGGTSRR LLPMQSRFVV CIMSGARSKL ALFLCGCYVV ALGAHTGEES VADHHEAEYY
VAAVYEHPSI LSLNPLALIS RQEALELMNQ NLDIYEQQVM TAAQKDVQII VFPEDGIHGF
NFTRTSIYPF LDFMPSPQVV RWNPCLEPHR FNDTEVLQRL SCMAIRGDMF LVANLGTKEP
CHSSDPRCPK DGRYQFNTNV VFSNNGTLVD RYRKHNLYFE AAFDVPLKVD LITFDTPFAG
RFGIFTCFDI LFFDPAIRVL RDYKVKHVVY PTAWMNQLPL LAAIEIQKAF AVAFGINVLA
ANVHHPVLGM TGSGIHTPLE SFWYHDMENP KSHLIIAQVA KNPVGLIGAE NATGETDPSH
SKFLKILSGD PYCEKDAQEV HCDEATKWNV NAPPTFHSEM MYDNFTLVPV WGKEGYLHVC
SNGLCCYLLY ERPTLSKELY ALGVFDGLHT VHGTYYIQVC ALVRCGGLGF DTCGQEITEA
TGIFEFHLWG NFSTSYIFPL FLTSGMTLEV PDQLGWENDH YFLRKSRLSS GLVTAALYGR
LYERD*
mutated AA sequence MPEGGGTSRR LLPMQSRFVV CIMSGARSKL ALFLCGCYVV ALGAHTGEES VADHHEAEYY
VAAVYEHPSI LSLNPLALIS RQEALELMNQ NLDIYEQQVM TAAQKDVQII VFPEDGIHGF
NFTRTSIYPF LDFMPSPQVV RWNPCLEPHR FNDTEVLQRL SCMAIRGDMF LVANLGTKEP
CHSSDPRCPK DGRYQFNTNV VFSNNGTLVD RYRKHNLYFE AAFDVPLKVD LITFDTPFAG
RFGIFTCFDI LFFDPAIRVL RDYKVKHVVY PTAWMNQLPL LAAIEIQKAF AVAFGINVLA
ANVHHPVLGM TGSGIHTPLE SFWYHDMENP KSHLIIAQVA KNPVGLIGAE NATGETDPSH
SKFLKILSGD PYCEKDAQEV HCDEATKWNV NAPPTFHSEM MYDNVTLVPV WGKEGYLHVC
SNGLCCYLLY ERPTLSKELY ALGVFDGLHT VHGTYYIQVC ALVRCGGLGF DTCGQEITEA
TGIFEFHLWG NFSTSYIFPL FLTSGMTLEV PDQLGWENDH YFLRKSRLSS GLVTAALYGR
LYERD*
speed 0.83 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