Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999327102243 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM093712)
  • known disease mutation: rs6307 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr19:57746353G>AN/A show variant in all transcripts   IGV
HGNC symbol AURKC
Ensembl transcript ID ENST00000448930
Genbank transcript ID NM_003160
UniProt peptide Q9UQB9
alteration type single base exchange
alteration region CDS
DNA changes c.584G>A
cDNA.739G>A
g.3977G>A
AA changes C195Y Score: 194 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 195
frameshift no
known variant Reference ID: rs121908654
Allele 'A' was neither found in ExAC nor 1000G.
known disease mutation: rs6307 (pathogenic for Infertility associated with multi-tailed spermatozoa and excessive DNA) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM093712)

known disease mutation at this position, please check HGMD for details (HGMD ID CM093712)
known disease mutation at this position, please check HGMD for details (HGMD ID CM093712)
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)3.8661
4.6881
(flanking)1.2171
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased3983wt: 0.8892 / mu: 0.9003 (marginal change - not scored)wt: CATTGGAGTGCTCTGCTATGAGCTGCTGGTGGGATATCCAC
mu: CATTGGAGTGCTCTACTATGAGCTGCTGGTGGGATATCCAC		 atga|GCTG
Donor gained39780.36mu: CTCTACTATGAGCTG CTAC|tatg
distance from splice site 74
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      195EKVDLWCIGVLCYELLVGYPPFES
mutated  not conserved    195EKVDLWCIGVLYYELLVGYPPFE
Ptroglodytes  all identical  ENSPTRG00000011547  229EKVDLWCIGVLCYELLVGYPPFE
Mmulatta  all identical  ENSMMUG00000000929  229EKVDLWCIGVLCYELLVGYPPFE
Fcatus  all identical  ENSFCAG00000002481  227ETVDLWCIGVLCYELLVGNPPFE
Mmusculus  all identical  ENSMUSG00000070837  241EMVDLWCIGVLCYELLVGKPPFE
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000094491  203NPAYVWTIGIMLYEIMHGRLAFN
Dmelanogaster  all identical  FBgn0000147  342KNVDLWSLGVLCFELLVGHAPFY
Celegans  not conserved  K07C11.2  232FNVDIWAIGILLFEMLVGYAPFA
Xtropicalis  all identical  ENSXETG00000009097  196EKVDLWCAGVLCFEFLVGMPPFD
protein features
start (aa)end (aa)featuredetails 
43293DOMAINProtein kinase.lost
193195CONFLICTSLR -> LPE (in Ref. 2; AAC77369).lost
198198MOD_RESPhosphothreonine; by PKA (By similarity).might get lost (downstream of altered splice site)
198198MUTAGENT->A: Impairs kinase activity.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 828 / 828
position (AA) of stopcodon in wt / mu AA sequence 276 / 276
position of stopcodon in wt / mu cDNA 983 / 983
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 156 / 156
chromosome 19
strand 1
last intron/exon boundary 813
theoretical NMD boundary in CDS 607
length of CDS 828
coding sequence (CDS) position 584
cDNA position
(for ins/del: last normal base / first normal base)		 739
gDNA position
(for ins/del: last normal base / first normal base)		 3977
chromosomal position
(for ins/del: last normal base / first normal base)		 57746353
original gDNA sequence snippet GTGGTGCATTGGAGTGCTCTGCTATGAGCTGCTGGTGGGAT
altered gDNA sequence snippet GTGGTGCATTGGAGTGCTCTACTATGAGCTGCTGGTGGGAT
original cDNA sequence snippet GTGGTGCATTGGAGTGCTCTGCTATGAGCTGCTGGTGGGAT
altered cDNA sequence snippet GTGGTGCATTGGAGTGCTCTACTATGAGCTGCTGGTGGGAT
wildtype AA sequence MRRLTVDDFE IGRPLGKGKF GNVYLARLKE SHFIVALKVL FKSQIEKEGL EHQLRREIEI
QAHLQHPNIL RLYNYFHDAR RVYLILEYAP RGELYKELQK SEKLDEQRTA TIIEELADAL
TYCHDKKVIH RDIKPENLLL GFRGEVKIAD FGWSVHTPSL RRKTMCGTLD YLPPEMIEGR
TYDEKVDLWC IGVLCYELLV GYPPFESASH SETYRRILKV DVRFPLSMPL GARDLISRLL
RYQPLERLPL AQILKHPWVQ AHSRRVLPPC AQMAS*
mutated AA sequence MRRLTVDDFE IGRPLGKGKF GNVYLARLKE SHFIVALKVL FKSQIEKEGL EHQLRREIEI
QAHLQHPNIL RLYNYFHDAR RVYLILEYAP RGELYKELQK SEKLDEQRTA TIIEELADAL
TYCHDKKVIH RDIKPENLLL GFRGEVKIAD FGWSVHTPSL RRKTMCGTLD YLPPEMIEGR
TYDEKVDLWC IGVLYYELLV GYPPFESASH SETYRRILKV DVRFPLSMPL GARDLISRLL
RYQPLERLPL AQILKHPWVQ AHSRRVLPPC AQMAS*
speed 1.14 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