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 ENST00000383778
Genbank transcript ID N/A
UniProt peptide P43251
alteration type single base exchange
alteration region CDS
DNA changes c.1147T>G
cDNA.1505T>G
g.43723T>G
AA changes F383V Score: 50 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 383
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 634
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      383PTFHSEMMYDNFTLVPVWGKEGYL
mutated  not conserved    383PTFHSEMMYDNVTLVPVWGKEGY
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 1572 / 1572
position (AA) of stopcodon in wt / mu AA sequence 524 / 524
position of stopcodon in wt / mu cDNA 1930 / 1930
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 359 / 359
chromosome 3
strand 1
last intron/exon boundary 758
theoretical NMD boundary in CDS 349
length of CDS 1572
coding sequence (CDS) position 1147
cDNA position
(for ins/del: last normal base / first normal base)		 1505
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 MSGARSKLAL FLCGCYVVAL GAHTGEESVA DHHEAEYYVA AVYEHPSILS LNPLALISRQ
EALELMNQNL DIYEQQVMTA AQKDVQIIVF PEDGIHGFNF TRTSIYPFLD FMPSPQVVRW
NPCLEPHRFN DTEVLQRLSC MAIRGDMFLV ANLGTKEPCH SSDPRCPKDG RYQFNTNVVF
SNNGTLVDRY RKHNLYFEAA FDVPLKVDLI TFDTPFAGRF GIFTCFDILF FDPAIRVLRD
YKVKHVVYPT AWMNQLPLLA AIEIQKAFAV AFGINVLAAN VHHPVLGMTG SGIHTPLESF
WYHDMENPKS HLIIAQVAKN PVGLIGAENA TGETDPSHSK FLKILSGDPY CEKDAQEVHC
DEATKWNVNA PPTFHSEMMY DNFTLVPVWG KEGYLHVCSN GLCCYLLYER PTLSKELYAL
GVFDGLHTVH GTYYIQVCAL VRCGGLGFDT CGQEITEATG IFEFHLWGNF STSYIFPLFL
TSGMTLEVPD QLGWENDHYF LRKSRLSSGL VTAALYGRLY ERD*
mutated AA sequence MSGARSKLAL FLCGCYVVAL GAHTGEESVA DHHEAEYYVA AVYEHPSILS LNPLALISRQ
EALELMNQNL DIYEQQVMTA AQKDVQIIVF PEDGIHGFNF TRTSIYPFLD FMPSPQVVRW
NPCLEPHRFN DTEVLQRLSC MAIRGDMFLV ANLGTKEPCH SSDPRCPKDG RYQFNTNVVF
SNNGTLVDRY RKHNLYFEAA FDVPLKVDLI TFDTPFAGRF GIFTCFDILF FDPAIRVLRD
YKVKHVVYPT AWMNQLPLLA AIEIQKAFAV AFGINVLAAN VHHPVLGMTG SGIHTPLESF
WYHDMENPKS HLIIAQVAKN PVGLIGAENA TGETDPSHSK FLKILSGDPY CEKDAQEVHC
DEATKWNVNA PPTFHSEMMY DNVTLVPVWG KEGYLHVCSN GLCCYLLYER PTLSKELYAL
GVFDGLHTVH GTYYIQVCAL VRCGGLGFDT CGQEITEATG IFEFHLWGNF STSYIFPLFL
TSGMTLEVPD QLGWENDHYF LRKSRLSSGL VTAALYGRLY ERD*
speed 1.05 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