Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999999999813 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM042349)
  • known disease mutation at this position (HGMD CM064006)
  • known disease mutation: rs9292 (pathogenic)
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr14:55312517G>CN/A show variant in all transcripts   IGV
HGNC symbol GCH1
Ensembl transcript ID ENST00000491895
Genbank transcript ID NM_000161
UniProt peptide P30793
alteration type single base exchange
alteration region CDS
DNA changes c.595C>G
cDNA.784C>G
g.57054C>G
AA changes P199A Score: 27 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 199
frameshift no
known variant Reference ID: rs137852633
Allele 'C' was neither found in ExAC nor 1000G.
known disease mutation: rs9292 (pathogenic for Autosomal recessive DOPA responsive dystonia) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM042349)

known disease mutation at this position, please check HGMD for details (HGMD ID CM042349)
known disease mutation at this position, please check HGMD for details (HGMD ID CM064006)

known disease mutation at this position, please check HGMD for details (HGMD ID CM042349)
known disease mutation at this position, please check HGMD for details (HGMD ID CM064006)
known disease mutation at this position, please check HGMD for details (HGMD ID CM042349)

known disease mutation at this position, please check HGMD for details (HGMD ID CM042349)
known disease mutation at this position, please check HGMD for details (HGMD ID CM064006)
known disease mutation at this position, please check HGMD for details (HGMD ID CM042349)
known disease mutation at this position, please check HGMD for details (HGMD ID CM064006)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)6.4241
6.4241
(flanking)-0.4580.627
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 32
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      199QIAVAITEALRPAGVGVVVEATHM
mutated  not conserved    199QIAVAITEALRAAGVGVVVEATH
Ptroglodytes  all identical  ENSPTRG00000006365  199QIAVAITEALRPAGVGVVVEATH
Mmulatta  all identical  ENSMMUG00000004084  199QIAVAITEALRPAGVGVVVEATH
Fcatus  all identical  ENSFCAG00000008872  84QIAVAITEALRPAGVGVVVEATH
Mmusculus  all identical  ENSMUSG00000037580  190VAITEALQPAGVGVVIEATH
Ggallus  all identical  ENSGALG00000012200  185ALQPAGVGVVIEATH
Trubripes  all identical  ENSTRUG00000015367  206QIAVAITEALHPTGVGVVIE
Drerio  all identical  ENSDARG00000070453  200QIAVAITEALQPAGVGVVVEATH
Dmelanogaster  all identical  FBgn0003162  272QIAVAVTQAVQPAGVAVVVEGVH
Celegans  all identical  F32G8.6  171QIATAMVQAVQPSGVAVVIEASH
Xtropicalis  all identical  ENSXETG00000012214  196IAIAITEALHPSGVGVVVEATH
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 753 / 753
position (AA) of stopcodon in wt / mu AA sequence 251 / 251
position of stopcodon in wt / mu cDNA 942 / 942
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 190 / 190
chromosome 14
strand -1
last intron/exon boundary 816
theoretical NMD boundary in CDS 576
length of CDS 753
coding sequence (CDS) position 595
cDNA position
(for ins/del: last normal base / first normal base)		 784
gDNA position
(for ins/del: last normal base / first normal base)		 57054
chromosomal position
(for ins/del: last normal base / first normal base)		 55312517
original gDNA sequence snippet CAATCACGGAAGCCTTGCGGCCTGCTGGAGTCGGGGTAGTG
altered gDNA sequence snippet CAATCACGGAAGCCTTGCGGGCTGCTGGAGTCGGGGTAGTG
original cDNA sequence snippet CAATCACGGAAGCCTTGCGGCCTGCTGGAGTCGGGGTAGTG
altered cDNA sequence snippet CAATCACGGAAGCCTTGCGGGCTGCTGGAGTCGGGGTAGTG
wildtype AA sequence MEKGPVRAPA EKPRGARCSN GFPERDPPRP GPSRPAEKPP RPEAKSAQPA DGWKGERPRS
EEDNELNLPN LAAAYSSILS SLGENPQRQG LLKTPWRAAS AMQFFTKGYQ ETISDVLNDA
IFDEDHDEMV IVKDIDMFSM CEHHLVPFVG KVHIGYLPNK QVLGLSKLAR IVEIYSRRLQ
VQERLTKQIA VAITEALRPA GVGVVVEATH MCMVMRGVQK MNSKTVTSTM LGVFREDPKT
REEFLTLIRS *
mutated AA sequence MEKGPVRAPA EKPRGARCSN GFPERDPPRP GPSRPAEKPP RPEAKSAQPA DGWKGERPRS
EEDNELNLPN LAAAYSSILS SLGENPQRQG LLKTPWRAAS AMQFFTKGYQ ETISDVLNDA
IFDEDHDEMV IVKDIDMFSM CEHHLVPFVG KVHIGYLPNK QVLGLSKLAR IVEIYSRRLQ
VQERLTKQIA VAITEALRAA GVGVVVEATH MCMVMRGVQK MNSKTVTSTM LGVFREDPKT
REEFLTLIRS *
speed 0.97 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