Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999999999983 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM012897)
  • known disease mutation: rs4428 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr9:32974542A>CN/A show variant in all transcripts   IGV
HGNC symbol APTX
Ensembl transcript ID ENST00000476858
Genbank transcript ID NM_001195250
UniProt peptide Q7Z2E3
alteration type single base exchange
alteration region CDS
DNA changes c.668T>G
cDNA.705T>G
g.50625T>G
AA changes V223G Score: 109 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 223
frameshift no
known variant Reference ID: rs121908132
Allele 'C' was neither found in ExAC nor 1000G.
known disease mutation: rs4428 (pathogenic for Ataxia-oculomotor apraxia type 1) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM012897)

known disease mutation at this position, please check HGMD for details (HGMD ID CM012897)
known disease mutation at this position, please check HGMD for details (HGMD ID CM012897)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.1410.981
4.4511
(flanking)5.3721
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 18
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      223AIPSMSHVHLHVISQDFDSPCLKN
mutated  not conserved    223AIPSMSHVHLHGISQDFDSPCLK
Ptroglodytes  all identical  ENSPTRG00000020850  263AIPSMSHVHLHVISQDFDSPCLK
Mmulatta  all identical  ENSMMUG00000007724  291AIPSMSHVHLHVISQDFDSPCLK
Fcatus  all identical  ENSFCAG00000008728  277AIPSMSHVHLHVISQDFDSPCLK
Mmusculus  all identical  ENSMUSG00000028411  263AIPSMSHVHLHVISQDFDSPCLK
Ggallus  all identical  ENSGALG00000001954  287AIPSMSQLHLHVISQDFDSPALK
Trubripes  all identical  ENSTRUG00000009794  277AIPSMSHVHLHVISQDFDSPCLK
Drerio  all identical  ENSDARG00000027143  245VHLHVISQDFDSPCLK
Dmelanogaster  all identical  FBgn0038704  99AEPSMQRLHLHVISKDFVSTSLK
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000024143  268AIPSMSHVHLHVISQDFDSPCLK
protein features
start (aa)end (aa)featuredetails 
182287DOMAINHIT.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 909 / 909
position (AA) of stopcodon in wt / mu AA sequence 303 / 303
position of stopcodon in wt / mu cDNA 946 / 946
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 38 / 38
chromosome 9
strand -1
last intron/exon boundary 792
theoretical NMD boundary in CDS 704
length of CDS 909
coding sequence (CDS) position 668
cDNA position
(for ins/del: last normal base / first normal base)		 705
gDNA position
(for ins/del: last normal base / first normal base)		 50625
chromosomal position
(for ins/del: last normal base / first normal base)		 32974542
original gDNA sequence snippet TAGCCATGTACATCTTCATGTGATCAGCCAGGATTTTGATT
altered gDNA sequence snippet TAGCCATGTACATCTTCATGGGATCAGCCAGGATTTTGATT
original cDNA sequence snippet GAGCCATGTACATCTTCATGTGATCAGCCAGGATTTTGATT
altered cDNA sequence snippet GAGCCATGTACATCTTCATGGGATCAGCCAGGATTTTGATT
wildtype AA sequence MSNVNLSVSD FWRVMMRVCW LVRQDSRHQR IRLPHLEAVV IGRGPETKIT DKKCSRQQEF
EEEAKNPGLE THRKRKRSGN SDSIERDAAQ EAEAGTGLEP GSNSGQCSVP LKKGKDAPIK
KESLGHWSQG LKISMQDPKM QVYKDEQVVV IKDKYPKARY HWLVLPWTSI SSLKAVAREH
LELLKHMHTV GEKVIVDFAG SSKLRFRLGY HAIPSMSHVH LHVISQDFDS PCLKNKKHWN
SFNTEYFLES QAVIEMVQEA GRVTVRDGMP ELLKLPLRCH ECQQLLPSIP QLKEHLRKHW
TQ*
mutated AA sequence MSNVNLSVSD FWRVMMRVCW LVRQDSRHQR IRLPHLEAVV IGRGPETKIT DKKCSRQQEF
EEEAKNPGLE THRKRKRSGN SDSIERDAAQ EAEAGTGLEP GSNSGQCSVP LKKGKDAPIK
KESLGHWSQG LKISMQDPKM QVYKDEQVVV IKDKYPKARY HWLVLPWTSI SSLKAVAREH
LELLKHMHTV GEKVIVDFAG SSKLRFRLGY HAIPSMSHVH LHGISQDFDS PCLKNKKHWN
SFNTEYFLES QAVIEMVQEA GRVTVRDGMP ELLKLPLRCH ECQQLLPSIP QLKEHLRKHW
TQ*
speed 0.45 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