Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 1 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM148085)
  • known disease mutation at this position (HGMD CM940821)
  • known disease mutation: rs9272 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr14:55332097T>AN/A show variant in all transcripts   IGV
HGNC symbol GCH1
Ensembl transcript ID ENST00000543643
Genbank transcript ID NM_001024070
UniProt peptide P30793
alteration type single base exchange
alteration region CDS
DNA changes c.401A>T
cDNA.545A>T
g.37474A>T
AA changes D134V Score: 152 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 134
frameshift no
known variant Reference ID: rs104894437
Allele 'A' was neither found in ExAC nor 1000G.
known disease mutation: rs9272 (pathogenic for Dystonia 5) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM940821)

known disease mutation at this position, please check HGMD for details (HGMD ID CM940821)
known disease mutation at this position, please check HGMD for details (HGMD ID CM148085)

known disease mutation at this position, please check HGMD for details (HGMD ID CM940821)
known disease mutation at this position, please check HGMD for details (HGMD ID CM148085)
known disease mutation at this position, please check HGMD for details (HGMD ID CM940821)
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)3.4571
5.0541
(flanking)6.121
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 53
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      134DEDHDEMVIVKDIDMFSMCEHHLV
mutated  not conserved    134DEDHDEMVIVKVIDMFSMCEHHL
Ptroglodytes  all identical  ENSPTRG00000006365  134DEDHDEMVIVKDIDMFSMCEHHL
Mmulatta  all identical  ENSMMUG00000004084  134DEDHDEMVIVKDIDMFSMCEHHL
Fcatus  all identical  ENSFCAG00000008872  19DEDHDEMVIVKDIDMFSMCEHHL
Mmusculus  all identical  ENSMUSG00000037580  125IVKDIDMFSMCEHHL
Ggallus  all identical  ENSGALG00000012200  120DEDHDEMVIVKDIDMFSLCEHHL
Trubripes  all identical  ENSTRUG00000015367  141DEDHDEMVIVKDIDMFSMCEHHL
Drerio  all identical  ENSDARG00000070453  135DEDHDEMVIVKDIDMFSMCEHHL
Dmelanogaster  all identical  FBgn0003162  207DHDEMVVVKDIEMFSMCEHHL
Celegans  all identical  F32G8.6  106DHDEMVIVKDIEMFSLCEHHL
Xtropicalis  all identical  ENSXETG00000012214  131MVIVKDIDMFSMCEHHL
protein features
start (aa)end (aa)featuredetails 
130141STRANDlost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 702 / 702
position (AA) of stopcodon in wt / mu AA sequence 234 / 234
position of stopcodon in wt / mu cDNA 846 / 846
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 145 / 145
chromosome 14
strand -1
last intron/exon boundary 859
theoretical NMD boundary in CDS 664
length of CDS 702
coding sequence (CDS) position 401
cDNA position
(for ins/del: last normal base / first normal base)		 545
gDNA position
(for ins/del: last normal base / first normal base)		 37474
chromosomal position
(for ins/del: last normal base / first normal base)		 55332097
original gDNA sequence snippet TGAGATGGTGATTGTGAAGGACATAGACATGTTTTCCATGT
altered gDNA sequence snippet TGAGATGGTGATTGTGAAGGTCATAGACATGTTTTCCATGT
original cDNA sequence snippet TGAGATGGTGATTGTGAAGGACATAGACATGTTTTCCATGT
altered cDNA sequence snippet TGAGATGGTGATTGTGAAGGTCATAGACATGTTTTCCATGT
wildtype AA sequence MEKGPVRAPA EKPRGARCSN GFPERDPPRP GPSRPAEKPP RPEAKSAQPA DGWKGERPRS
EEDNELNLPN LAAAYSSILS SLGENPQRQG LLKTPWRAAS AMQFFTKGYQ ETISDVLNDA
IFDEDHDEMV IVKDIDMFSM CEHHLVPFVG KVHIGYLPNK QVLGLSKLAR IVEIYSRRLQ
VQERLTKQIA VAITEALRPA GVGVVVEATK SNKYNKGLSP LLSSCHLFVA ILK*
mutated AA sequence MEKGPVRAPA EKPRGARCSN GFPERDPPRP GPSRPAEKPP RPEAKSAQPA DGWKGERPRS
EEDNELNLPN LAAAYSSILS SLGENPQRQG LLKTPWRAAS AMQFFTKGYQ ETISDVLNDA
IFDEDHDEMV IVKVIDMFSM CEHHLVPFVG KVHIGYLPNK QVLGLSKLAR IVEIYSRRLQ
VQERLTKQIA VAITEALRPA GVGVVVEATK SNKYNKGLSP LLSSCHLFVA ILK*
speed 0.79 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