Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999970059429052 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • heterozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM970190)
  • known disease mutation: rs1902 (pathogenic)
  • protein features (might be) affected
  • splice site changes
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analysed issue analysis result
name of alteration no title
alteration (phys. location) chr3:15686731A>CN/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.1308A>C
cDNA.1666A>C
g.43884A>C
AA changes Q436H Score: 24 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 436
frameshift no
known variant Reference ID: rs80338685
databasehomozygous (C/C)heterozygousallele carriers
1000G011
ExAC04949

known disease mutation: rs1902 (pathogenic for Intellectual disability|Biotinidase deficiency|not provided) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM970190)

known disease mutation at this position, please check HGMD for details (HGMD ID CM970190)
known disease mutation at this position, please check HGMD for details (HGMD ID CM970190)
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)4.8761
0.4940.995
(flanking)3.4080.994
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 increased43884wt: 0.7932 / mu: 0.7965 (marginal change - not scored)wt: CATGGCACTTACTACATCCAAGTGTGTGCCCTGGTCAGGTG
mu: CATGGCACTTACTACATCCACGTGTGTGCCCTGGTCAGGTG		 ccaa|GTGT
Donor marginally increased43883wt: 0.5745 / mu: 0.6287 (marginal change - not scored)wt: CATCCAAGTGTGTGC
mu: CATCCACGTGTGTGC		 TCCA|agtg
Acc gained438880.56mu: GCACTTACTACATCCACGTGTGTGCCCTGGTCAGGTGTGGG gtgt|GTGC
Acc gained438900.50mu: ACTTACTACATCCACGTGTGTGCCCTGGTCAGGTGTGGGGG gtgt|GCCC
Acc gained438860.53mu: TGGCACTTACTACATCCACGTGTGTGCCCTGGTCAGGTGTG acgt|GTGT
distance from splice site 473
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      436GLHTVHGTYYIQVCALVRCGGLGF
mutated  not conserved    436GLHTVHGTYYIHVCALVRCGGLG
Ptroglodytes  all identical  ENSPTRG00000014668  456GLHTVHGTYYIQVCALVRCGGLG
Mmulatta  all identical  ENSMMUG00000020762  352GLHTVHGTYYIQVCALVRCG
Fcatus  all identical  ENSFCAG00000011306  441GLHTVHGTYYVQVCALVKCGGLG
Mmusculus  all identical  ENSMUSG00000021900  442GLHTVHGTYYIQTCALVKCGGLG
Ggallus  all identical  ENSGALG00000011216  430GLHTVNGIYYVQACALVKCGGLS
Trubripes  all identical  ENSTRUG00000014869  398GTHTVNGRYAVQVCALVRCAGSD
Drerio  all conserved  ENSDARG00000006926  431GLHVVNGVYYLEVCAVVKCAG
Dmelanogaster  all conserved  FBgn0040069  403GWRNENNVDANYIRNCALFTCSGDS
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000008991  425GLHTVHGTYYLQICALVKCGGLE
protein features
start (aa)end (aa)featuredetails 
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 1308
cDNA position
(for ins/del: last normal base / first normal base)		 1666
gDNA position
(for ins/del: last normal base / first normal base)		 43884
chromosomal position
(for ins/del: last normal base / first normal base)		 15686731
original gDNA sequence snippet CATGGCACTTACTACATCCAAGTGTGTGCCCTGGTCAGGTG
altered gDNA sequence snippet CATGGCACTTACTACATCCACGTGTGTGCCCTGGTCAGGTG
original cDNA sequence snippet CATGGCACTTACTACATCCAAGTGTGTGCCCTGGTCAGGTG
altered cDNA sequence snippet CATGGCACTTACTACATCCACGTGTGTGCCCTGGTCAGGTG
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 DNFTLVPVWG KEGYLHVCSN GLCCYLLYER PTLSKELYAL
GVFDGLHTVH GTYYIHVCAL VRCGGLGFDT CGQEITEATG IFEFHLWGNF STSYIFPLFL
TSGMTLEVPD QLGWENDHYF LRKSRLSSGL VTAALYGRLY ERD*
speed 1.03 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