Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 6.96811860894806e-10 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM070885)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr22:51009953C>TN/A show variant in all transcripts   IGV
HGNC symbol CPT1B
Ensembl transcript ID ENST00000434492
Genbank transcript ID N/A
UniProt peptide Q92523
alteration type single base exchange
alteration region CDS
DNA changes c.976G>A
cDNA.1936G>A
g.7947G>A
AA changes E326K Score: 56 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 326
frameshift no
known variant Reference ID: rs470117
databasehomozygous (T/T)heterozygousallele carriers
1000G33310111344
ExAC111961037521571

known disease mutation at this position, please check HGMD for details (HGMD ID CM070885)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)4.5291
5.4821
(flanking)0.4971
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained79430.54mu: GCGGTCATCAAGAGT GGTC|atca
distance from splice site 10
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      326LQWDIPKQAVIESSYQVAKALADD
mutated  all conserved    326LQWDIPKQAVIKSSYQVAKALAD
Ptroglodytes  all identical  ENSPTRG00000014548  529LQWDIPKQCQAVIESSYQVAKALAD
Mmulatta  all identical  ENSMMUG00000003121  526LQWDIPKQCQAVIESSYQVAKALAD
Fcatus  all identical  ENSFCAG00000010593  526LQWDIPKQCQAVIESSCRVATALAD
Mmusculus  all identical  ENSMUSG00000078937  529LPWDIPEQCREAIENSYQVAKALAD
Ggallus  no homologue    
Trubripes  all identical  ENSTRUG00000011589  527LQWQIPVECKSIIEASYVSAKRIAD
Drerio  all identical  ENSDARG00000058285  527LQWDIPKACQEIIEGSYRIAKGIAD
Dmelanogaster  all identical  FBgn0261862  527LTWDLKPCLAQIEEATIDVTKLIN
Celegans  not conserved  Y46G5A.17  530LKWEIPAPALDQIRKSMEVANALIA
Xtropicalis  all identical  ENSXETG00000015426  527LQWDIPPKCREVIERSYVTAKAIAD
protein features
start (aa)end (aa)featuredetails 
123772TOPO_DOMCytoplasmic (Potential).lost
473473ACT_SITEProton acceptor (By similarity).might get lost (downstream of altered splice site)
555567REGIONCoenzyme A binding (By similarity).might get lost (downstream of altered splice site)
589589BINDINGCarnitine (By similarity).might get lost (downstream of altered splice site)
602602BINDINGCarnitine (By similarity).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1704 / 1704
position (AA) of stopcodon in wt / mu AA sequence 568 / 568
position of stopcodon in wt / mu cDNA 2664 / 2664
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 961 / 961
chromosome 22
strand -1
last intron/exon boundary 2667
theoretical NMD boundary in CDS 1656
length of CDS 1704
coding sequence (CDS) position 976
cDNA position
(for ins/del: last normal base / first normal base)		 1936
gDNA position
(for ins/del: last normal base / first normal base)		 7947
chromosomal position
(for ins/del: last normal base / first normal base)		 51009953
original gDNA sequence snippet GGCAGTGCCAGGCGGTCATCGAGAGTTCCTACCAGGTGGCC
altered gDNA sequence snippet GGCAGTGCCAGGCGGTCATCAAGAGTTCCTACCAGGTGGCC
original cDNA sequence snippet TTCCAAAACAGGCGGTCATCGAGAGTTCCTACCAGGTGGCC
altered cDNA sequence snippet TTCCAAAACAGGCGGTCATCAAGAGTTCCTACCAGGTGGCC
wildtype AA sequence MELLAKEFQD KTAPRLQKYL VLKSWWASNY VSDWWEEYIY LRGRSPLMVN SNYYVMDLVL
IKNTDVQAAR LGNIIHAMIM YRRKLDREEI KPVMALGIVP MCSYQMERMF NTTRIPGKDT
DVLQHLSDSR HVAVYHKGRF FKLWLYEGAR LLKPQDLEMQ FQRILDDPSP PQPGEEKLAA
LTAGGRVEWA QARQAFFSSG KNKAALEAIE RAAFFVALDE ESYSYDPEDE ASLSLYGKAL
LHGNCYNRWF DKSFTLISFK NGQLGLNAEH AWADAPIIGH LWEFVLGTDS FHLGYTETGH
CLGKPNPALA PPTRLQWDIP KQAVIESSYQ VAKALADDVE LYCFQFLPFG KGLIKKCRTS
PDAFVQIALQ LAHFRDRGKF CLTYEASMTR MFREGRTETV RSCTSESTAF VQAMMEGSHT
KADLRDLFQK AAKKHQNMYR LAMTGAGIDR HLFCLYLVSK YLGVSSPFLA EVLSEPWRLS
TSQIPQSQIR MFDPEQHPNH LGAGGGFGPV ADDGYGVSYM IAGENTIFFH ISSKFSSSET
NAQRFGNHIR KALLDIADLF QVPKAYS*
mutated AA sequence MELLAKEFQD KTAPRLQKYL VLKSWWASNY VSDWWEEYIY LRGRSPLMVN SNYYVMDLVL
IKNTDVQAAR LGNIIHAMIM YRRKLDREEI KPVMALGIVP MCSYQMERMF NTTRIPGKDT
DVLQHLSDSR HVAVYHKGRF FKLWLYEGAR LLKPQDLEMQ FQRILDDPSP PQPGEEKLAA
LTAGGRVEWA QARQAFFSSG KNKAALEAIE RAAFFVALDE ESYSYDPEDE ASLSLYGKAL
LHGNCYNRWF DKSFTLISFK NGQLGLNAEH AWADAPIIGH LWEFVLGTDS FHLGYTETGH
CLGKPNPALA PPTRLQWDIP KQAVIKSSYQ VAKALADDVE LYCFQFLPFG KGLIKKCRTS
PDAFVQIALQ LAHFRDRGKF CLTYEASMTR MFREGRTETV RSCTSESTAF VQAMMEGSHT
KADLRDLFQK AAKKHQNMYR LAMTGAGIDR HLFCLYLVSK YLGVSSPFLA EVLSEPWRLS
TSQIPQSQIR MFDPEQHPNH LGAGGGFGPV ADDGYGVSYM IAGENTIFFH ISSKFSSSET
NAQRFGNHIR KALLDIADLF QVPKAYS*
speed 0.47 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