Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.957433947308538 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM993555)
  • known disease mutation: rs1901 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr3:15686118A>GN/A show variant in all transcripts   IGV
HGNC symbol BTD
Ensembl transcript ID ENST00000303498
Genbank transcript ID NM_000060
UniProt peptide P43251
alteration type single base exchange
alteration region CDS
DNA changes c.755A>G
cDNA.864A>G
g.43271A>G
AA changes D252G Score: 94 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 252
frameshift no
known variant Reference ID: rs28934601
databasehomozygous (G/G)heterozygousallele carriers
1000G---
ExAC022

known disease mutation: rs1901 (pathogenic for Biotinidase deficiency|not provided) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM993555)

known disease mutation at this position, please check HGMD for details (HGMD ID CM993555)
known disease mutation at this position, please check HGMD for details (HGMD ID CM993555)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
H3K4me1, Histone, Histone 3 Lysine 4 Mono-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.1230.928
1.3220.935
(flanking)0.040.928
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 increased43279wt: 0.7415 / mu: 0.7826 (marginal change - not scored)wt: TATTGTTCTTTGACCCTGCCATCAGAGTCCTCAGAGACTAC
mu: TATTGTTCTTTGGCCCTGCCATCAGAGTCCTCAGAGACTAC		 gcca|TCAG
Acc increased43270wt: 0.42 / mu: 0.74wt: GCTTTGATATATTGTTCTTTGACCCTGCCATCAGAGTCCTC
mu: GCTTTGATATATTGTTCTTTGGCCCTGCCATCAGAGTCCTC		 tttg|ACCC
Acc marginally increased43277wt: 0.6540 / mu: 0.6668 (marginal change - not scored)wt: TATATTGTTCTTTGACCCTGCCATCAGAGTCCTCAGAGACT
mu: TATATTGTTCTTTGGCCCTGCCATCAGAGTCCTCAGAGACT		 ctgc|CATC
Acc marginally increased43282wt: 0.9233 / mu: 0.9318 (marginal change - not scored)wt: TGTTCTTTGACCCTGCCATCAGAGTCCTCAGAGACTACAAG
mu: TGTTCTTTGGCCCTGCCATCAGAGTCCTCAGAGACTACAAG		 atca|GAGT
Acc marginally increased43266wt: 0.7146 / mu: 0.7205 (marginal change - not scored)wt: ACATGCTTTGATATATTGTTCTTTGACCCTGCCATCAGAGT
mu: ACATGCTTTGATATATTGTTCTTTGGCCCTGCCATCAGAGT		 gttc|TTTG
Acc marginally increased43269wt: 0.7711 / mu: 0.8178 (marginal change - not scored)wt: TGCTTTGATATATTGTTCTTTGACCCTGCCATCAGAGTCCT
mu: TGCTTTGATATATTGTTCTTTGGCCCTGCCATCAGAGTCCT		 cttt|GACC
Acc marginally increased43276wt: 0.4155 / mu: 0.4335 (marginal change - not scored)wt: ATATATTGTTCTTTGACCCTGCCATCAGAGTCCTCAGAGAC
mu: ATATATTGTTCTTTGGCCCTGCCATCAGAGTCCTCAGAGAC		 cctg|CCAT
distance from splice site 296
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      252GIFTCFDILFFDPAIRVLRDYKVK
mutated  not conserved    252GIFTCFDILFFGPAIRVLRDYKV
Ptroglodytes  all identical  ENSPTRG00000014668  252GIFTCFDILFFDPAIRVLRDYKV
Mmulatta  all identical  ENSMMUG00000020762  148GIFTCFDILFFDPAVRLLRDYKV
Fcatus  all identical  ENSFCAG00000011306  237GIFTCFDILFFDPAI
Mmusculus  all identical  ENSMUSG00000021900  238GVFTCFDILFFDPAVRLLRDFEV
Ggallus  all conserved  ENSGALG00000011216  222GMFTCFDILFFEPAVNLIRQYNV
Trubripes  all conserved  ENSTRUG00000014869  221GLITCFDILFQEPTV-ILVEKGV
Drerio  all identical  ENSDARG00000006926  228GMFTCFDILFRDPAVTLVKELGV
Dmelanogaster  not conserved  FBgn0040069  211GHFICFDILFYTPAHQLIVEQGI
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000008991  225GLITCFDILFYKPAVSLVESHMV
protein features
start (aa)end (aa)featuredetails 
57363DOMAINCN hydrolase.lost
349349CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
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 1632 / 1632
position (AA) of stopcodon in wt / mu AA sequence 544 / 544
position of stopcodon in wt / mu cDNA 1741 / 1741
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 110 / 110
chromosome 3
strand 1
last intron/exon boundary 569
theoretical NMD boundary in CDS 409
length of CDS 1632
coding sequence (CDS) position 755
cDNA position
(for ins/del: last normal base / first normal base)		 864
gDNA position
(for ins/del: last normal base / first normal base)		 43271
chromosomal position
(for ins/del: last normal base / first normal base)		 15686118
original gDNA sequence snippet CTTTGATATATTGTTCTTTGACCCTGCCATCAGAGTCCTCA
altered gDNA sequence snippet CTTTGATATATTGTTCTTTGGCCCTGCCATCAGAGTCCTCA
original cDNA sequence snippet CTTTGATATATTGTTCTTTGACCCTGCCATCAGAGTCCTCA
altered cDNA sequence snippet CTTTGATATATTGTTCTTTGGCCCTGCCATCAGAGTCCTCA
wildtype AA sequence MAHAHIQGGR RAKSRFVVCI 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 MAHAHIQGGR RAKSRFVVCI MSGARSKLAL FLCGCYVVAL GAHTGEESVA DHHEAEYYVA
AVYEHPSILS LNPLALISRQ EALELMNQNL DIYEQQVMTA AQKDVQIIVF PEDGIHGFNF
TRTSIYPFLD FMPSPQVVRW NPCLEPHRFN DTEVLQRLSC MAIRGDMFLV ANLGTKEPCH
SSDPRCPKDG RYQFNTNVVF SNNGTLVDRY RKHNLYFEAA FDVPLKVDLI TFDTPFAGRF
GIFTCFDILF FGPAIRVLRD 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*
speed 0.86 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