Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.742605765295972 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM083726)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr1:45797505C>GN/A show variant in all transcripts   IGV
HGNC symbol MUTYH
Ensembl transcript ID ENST00000372104
Genbank transcript ID N/A
UniProt peptide Q9UIF7
alteration type single base exchange
alteration region CDS
DNA changes c.930G>C
cDNA.1123G>C
g.8638G>C
AA changes Q310H Score: 24 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 310
frameshift no
known variant Reference ID: rs3219489
databasehomozygous (G/G)heterozygousallele carriers
1000G28010101290
ExAC42662033324599

known disease mutation at this position, please check HGMD for details (HGMD ID CM083726)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)4.7560.999
-0.0780.335
(flanking)0.0880.335
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased8633wt: 0.63 / mu: 0.72wt: CGTTCCCAGCTCCCAACACTGGACAGTGCCACCTGTGCCTG
mu: CGTTCCCAGCTCCCAACACTGGACACTGCCACCTGTGCCTG		 actg|GACA
Donor marginally increased8639wt: 0.4745 / mu: 0.5174 (marginal change - not scored)wt: GACAGTGCCACCTGT
mu: GACACTGCCACCTGT		 CAGT|gcca
Donor marginally increased8630wt: 0.2529 / mu: 0.3326 (marginal change - not scored)wt: CCAACACTGGACAGT
mu: CCAACACTGGACACT		 AACA|ctgg
Acc gained86460.48mu: CAACACTGGACACTGCCACCTGTGCCTGCCTCCCTCGGAGC acct|GTGC
distance from splice site 17
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      310PDVEECAPNTGQCHLCLPPSEPWD
mutated  not conserved    310VEECAPNTGHCHLCLPPSEPW
Ptroglodytes  all identical  ENSPTRG00000024019  335PDVEECAPNTGQCHLCLPPSEPW
Mmulatta  all identical  ENSMMUG00000020079  335PDVEECALNTGQCQLCLPASEPW
Fcatus  all identical  ENSFCAG00000002222  323PDVEECAPSAGQCQLCAPPTEPW
Mmusculus  all identical  ENSMUSG00000028687  306IEECALNTRQCQLCLTSSSPW
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000074889  301PDIENCM-SAGSCNLC
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000003533  296PIAKDVGDIEDCELGPGLCALCVPTSDPW
protein features
start (aa)end (aa)featuredetails 
304316HELIXlost
330332HELIXmight get lost (downstream of altered splice site)
358360STRANDmight get lost (downstream of altered splice site)
364495DOMAINNudix hydrolase.might get lost (downstream of altered splice site)
366377STRANDmight get lost (downstream of altered splice site)
379388STRANDmight get lost (downstream of altered splice site)
403405STRANDmight get lost (downstream of altered splice site)
410424HELIXmight get lost (downstream of altered splice site)
447456STRANDmight get lost (downstream of altered splice site)
470474STRANDmight get lost (downstream of altered splice site)
475480HELIXmight get lost (downstream of altered splice site)
485495HELIXmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1566 / 1566
position (AA) of stopcodon in wt / mu AA sequence 522 / 522
position of stopcodon in wt / mu cDNA 1759 / 1759
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 194 / 194
chromosome 1
strand -1
last intron/exon boundary 1628
theoretical NMD boundary in CDS 1384
length of CDS 1566
coding sequence (CDS) position 930
cDNA position
(for ins/del: last normal base / first normal base)		 1123
gDNA position
(for ins/del: last normal base / first normal base)		 8638
chromosomal position
(for ins/del: last normal base / first normal base)		 45797505
original gDNA sequence snippet CCAGCTCCCAACACTGGACAGTGCCACCTGTGCCTGCCTCC
altered gDNA sequence snippet CCAGCTCCCAACACTGGACACTGCCACCTGTGCCTGCCTCC
original cDNA sequence snippet TGTGCTCCCAACACTGGACAGTGCCACCTGTGCCTGCCTCC
altered cDNA sequence snippet TGTGCTCCCAACACTGGACACTGCCACCTGTGCCTGCCTCC
wildtype AA sequence MRKPRAAVGS GHRKQAASQE GRQKHAKNNS QAKPSACDGL ARQPEEVVLQ ASVSSYHLFR
DVAEVTAFRG SLLSWYDQEK RDLPWRRRAE DEMDLDRRAY AVWVSEVMLQ QTQVATVINY
YTGWMQKWPT LQDLASASLE EVNQLWAGLG YYSRGRRLQE GARKVVEELG GHMPRTAETL
QQLLPGVGRY TAGAIASIAF GQATGVVDGN VARVLCRVRA IGADPSSTLV SQQLWGLAQQ
LVDPARPGDF NQAAMELGAT VCTPQRPLCS QCPVESLCRA RQRVEQEQLL ASGSLSGSPD
VEECAPNTGQ CHLCLPPSEP WDQTLGVVNF PRKASRKPPR EESSATCVLE QPGALGAQIL
LVQRPNSGLL AGLWEFPSVT WEPSEQLQRK ALLQELQRWA GPLPATHLRH LGEVVHTFSH
IKLTYQVYGL ALEGQTPVTT VPPGARWLTQ EEFHTAAVST AMKKVFRVYQ GQQPGTCMGS
KRSQVSSPCS RKKPRMGQQV LDNFFRSHIS TDAHSLNSAA Q*
mutated AA sequence MRKPRAAVGS GHRKQAASQE GRQKHAKNNS QAKPSACDGL ARQPEEVVLQ ASVSSYHLFR
DVAEVTAFRG SLLSWYDQEK RDLPWRRRAE DEMDLDRRAY AVWVSEVMLQ QTQVATVINY
YTGWMQKWPT LQDLASASLE EVNQLWAGLG YYSRGRRLQE GARKVVEELG GHMPRTAETL
QQLLPGVGRY TAGAIASIAF GQATGVVDGN VARVLCRVRA IGADPSSTLV SQQLWGLAQQ
LVDPARPGDF NQAAMELGAT VCTPQRPLCS QCPVESLCRA RQRVEQEQLL ASGSLSGSPD
VEECAPNTGH CHLCLPPSEP WDQTLGVVNF PRKASRKPPR EESSATCVLE QPGALGAQIL
LVQRPNSGLL AGLWEFPSVT WEPSEQLQRK ALLQELQRWA GPLPATHLRH LGEVVHTFSH
IKLTYQVYGL ALEGQTPVTT VPPGARWLTQ EEFHTAAVST AMKKVFRVYQ GQQPGTCMGS
KRSQVSSPCS RKKPRMGQQV LDNFFRSHIS TDAHSLNSAA Q*
speed 1.17 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