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 ENST00000397172
Genbank transcript ID NM_001195252
UniProt peptide Q7Z2E3
alteration type single base exchange
alteration region CDS
DNA changes c.614T>G
cDNA.617T>G
g.50625T>G
AA changes V205G Score: 109 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 205
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      205AIPSMSHVHLHVISQDFDSPCLKN
mutated  not conserved    205AIPSMSHVHLHGISQDFDSPCLK
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  245AIPSMSHVHLHVISQDFDSPCLK
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 855 / 855
position (AA) of stopcodon in wt / mu AA sequence 285 / 285
position of stopcodon in wt / mu cDNA 858 / 858
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 4 / 4
chromosome 9
strand -1
last intron/exon boundary 704
theoretical NMD boundary in CDS 650
length of CDS 855
coding sequence (CDS) position 614
cDNA position
(for ins/del: last normal base / first normal base)		 617
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 DKKCSRQQVQ
LKAECNKGYV KVKQVGVNPT SIDSVVIGKD QEVKLQPGQV LHMESLGHWS QGLKISMQDP
KMQVYKDEQV VVIKDKYPKA RYHWLVLPWT SISSLKAVAR EHLELLKHMH TVGEKVIVDF
AGSSKLRFRL GYHAIPSMSH VHLHVISQDF DSPCLKNKKH WNSFNTEYFL ESQAVIEMVQ
EAGRVTVRDG MPELLKLPLR CHECQQLLPS IPQLKEHLRK HWTQ*
mutated AA sequence MSNVNLSVSD FWRVMMRVCW LVRQDSRHQR IRLPHLEAVV IGRGPETKIT DKKCSRQQVQ
LKAECNKGYV KVKQVGVNPT SIDSVVIGKD QEVKLQPGQV LHMESLGHWS QGLKISMQDP
KMQVYKDEQV VVIKDKYPKA RYHWLVLPWT SISSLKAVAR EHLELLKHMH TVGEKVIVDF
AGSSKLRFRL GYHAIPSMSH VHLHGISQDF DSPCLKNKKH WNSFNTEYFL ESQAVIEMVQ
EAGRVTVRDG MPELLKLPLR CHECQQLLPS IPQLKEHLRK HWTQ*
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