Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.993254196140495 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr20:5933108C>AN/A show variant in all transcripts   IGV
HGNC symbol MCM8
Ensembl transcript ID ENST00000378896
Genbank transcript ID NM_032485
UniProt peptide Q9UJA3
alteration type single base exchange
alteration region CDS
DNA changes c.187C>A
cDNA.564C>A
g.1811C>A
AA changes Q63K Score: 53 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 63
frameshift no
known variant Reference ID: rs236110
databasehomozygous (A/A)heterozygousallele carriers
1000G2348411075
ExAC24071631318720
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me1, Histone, Histone 3 Lysine 9 mono-methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
H3K4me1, Histone, Histone 3 Lysine 4 Mono-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.9550.966
1.1540.939
(flanking)0.9550.873
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 increased1802wt: 0.8855 / mu: 0.9213 (marginal change - not scored)wt: CACAGTTTTTGCTTTCAACAAAGACCCCACAGTCAATGCAG
mu: CACAGTTTTTGCTTTCAACAAAGACCCCAAAGTCAATGCAG		 acaa|AGAC
Acc increased1801wt: 0.31 / mu: 0.42wt: CCACAGTTTTTGCTTTCAACAAAGACCCCACAGTCAATGCA
mu: CCACAGTTTTTGCTTTCAACAAAGACCCCAAAGTCAATGCA		 aaca|AAGA
Donor marginally increased1816wt: 0.8816 / mu: 0.9139 (marginal change - not scored)wt: CAGTCAATGCAGTCA
mu: AAGTCAATGCAGTCA		 GTCA|atgc
Donor marginally increased1812wt: 0.9893 / mu: 0.9941 (marginal change - not scored)wt: CCCACAGTCAATGCA
mu: CCCAAAGTCAATGCA		 CACA|gtca
Donor increased1807wt: 0.60 / mu: 0.98wt: AAGACCCCACAGTCA
mu: AAGACCCCAAAGTCA		 GACC|ccac
Donor increased1813wt: 0.40 / mu: 0.56wt: CCACAGTCAATGCAG
mu: CCAAAGTCAATGCAG		 ACAG|tcaa
distance from splice site 39
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      63TPQFLLSTKTPQSMQSTLDRFIPY
mutated  all conserved    63TPKSMQSTLDRFIP
Ptroglodytes  all identical  ENSPTRG00000013233  63TPQSMQSTLDRFIP
Mmulatta  all identical  ENSMMUG00000013740  63TPQSMQSTLDQLIP
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000027353  61-----QSTLDQFIP
Ggallus  not conserved  ENSGALG00000009195  62ASSRL---VQSTLDQFIP
Trubripes  not conserved  ENSTRUG00000007887  60QRVLSQSTLDVLCP
Drerio  all conserved  ENSDARG00000074326  76-RVTQATLDITCP
Dmelanogaster  not conserved  FBgn0003227  92RPENYAAPEDGLQVQSIAVDNPRA
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000004500  54DPVCFSTAPPKPQLTQTTLDKYIP
protein features
start (aa)end (aa)featuredetails 
402609DOMAINMCM.might get lost (downstream of altered splice site)
454461NP_BINDATP (Potential).might get lost (downstream of altered splice site)
481490COMPBIASThr-rich.might get lost (downstream of altered splice site)
590590CONFLICTV -> A (in Ref. 6; AAI01056).might get lost (downstream of altered splice site)
788788CONFLICTE -> G (in Ref. 6; AAI01055).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2523 / 2523
position (AA) of stopcodon in wt / mu AA sequence 841 / 841
position of stopcodon in wt / mu cDNA 2900 / 2900
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 378 / 378
chromosome 20
strand 1
last intron/exon boundary 2808
theoretical NMD boundary in CDS 2380
length of CDS 2523
coding sequence (CDS) position 187
cDNA position
(for ins/del: last normal base / first normal base)		 564
gDNA position
(for ins/del: last normal base / first normal base)		 1811
chromosomal position
(for ins/del: last normal base / first normal base)		 5933108
original gDNA sequence snippet TGCTTTCAACAAAGACCCCACAGTCAATGCAGTCAACATTG
altered gDNA sequence snippet TGCTTTCAACAAAGACCCCAAAGTCAATGCAGTCAACATTG
original cDNA sequence snippet TGCTTTCAACAAAGACCCCACAGTCAATGCAGTCAACATTG
altered cDNA sequence snippet TGCTTTCAACAAAGACCCCAAAGTCAATGCAGTCAACATTG
wildtype AA sequence MNGEYRGRGF GRGRFQSWKR GRGGGNFSGK WREREHRPDL SKTTGKRTSE QTPQFLLSTK
TPQSMQSTLD RFIPYKGWKL YFSEVYSDSS PLIEKIQAFE KFFTRHIDLY DKDEIERKGS
ILVDFKELTE GGEVTNLIPD IATELRDAPE KTLACMGLAI HQVLTKDLER HAAELQAQEG
LSNDGETMVN VPHIHARVYN YEPLTQLKNV RANYYGKYIA LRGTVVRVSN IKPLCTKMAF
LCAACGEIQS FPLPDGKYSL PTKCPVPVCR GRSFTALRSS PLTVTMDWQS IKIQELMSDD
QREAGRIPRT IECELVHDLV DSCVPGDTVT ITGIVKVSNA EEGSRNKNDK CMFLLYIEAN
SISNSKGQKT KSSEDGCKHG MLMEFSLKDL YAIQEIQAEE NLFKLIVNSL CPVIFGHELV
KAGLALALFG GSQKYADDKN RIPIRGDPHI LVVGDPGLGK SQMLQAACNV APRGVYVCGN
TTTTSGLTVT LSKDSSSGDF ALEAGALVLG DQGICGIDEF DKMGNQHQAL LEAMEQQSIS
LAKAGVVCSL PARTSIIAAA NPVGGHYNKA KTVSENLKMG SALLSRFDLV FILLDTPNEH
HDHLLSEHVI AIRAGKQRTI SSATVARMNS QDSNTSVLEV VSEKPLSERL KVVPGETIDP
IPHQLLRKYI GYARQYVYPR LSTEAARVLQ DFYLELRKQS QRLNSSPITT RQLESLIRLT
EARARLELRE EATKEDAEDI VEIMKYSMLG TYSDEFGNLD FERSQHGSGM SNRSTAKRFI
SALNNVAERT YNNIFQFHQL RQIAKELNIQ VADFENFIGS LNDQGYLLKK GPKVYQLQTM
*
mutated AA sequence MNGEYRGRGF GRGRFQSWKR GRGGGNFSGK WREREHRPDL SKTTGKRTSE QTPQFLLSTK
TPKSMQSTLD RFIPYKGWKL YFSEVYSDSS PLIEKIQAFE KFFTRHIDLY DKDEIERKGS
ILVDFKELTE GGEVTNLIPD IATELRDAPE KTLACMGLAI HQVLTKDLER HAAELQAQEG
LSNDGETMVN VPHIHARVYN YEPLTQLKNV RANYYGKYIA LRGTVVRVSN IKPLCTKMAF
LCAACGEIQS FPLPDGKYSL PTKCPVPVCR GRSFTALRSS PLTVTMDWQS IKIQELMSDD
QREAGRIPRT IECELVHDLV DSCVPGDTVT ITGIVKVSNA EEGSRNKNDK CMFLLYIEAN
SISNSKGQKT KSSEDGCKHG MLMEFSLKDL YAIQEIQAEE NLFKLIVNSL CPVIFGHELV
KAGLALALFG GSQKYADDKN RIPIRGDPHI LVVGDPGLGK SQMLQAACNV APRGVYVCGN
TTTTSGLTVT LSKDSSSGDF ALEAGALVLG DQGICGIDEF DKMGNQHQAL LEAMEQQSIS
LAKAGVVCSL PARTSIIAAA NPVGGHYNKA KTVSENLKMG SALLSRFDLV FILLDTPNEH
HDHLLSEHVI AIRAGKQRTI SSATVARMNS QDSNTSVLEV VSEKPLSERL KVVPGETIDP
IPHQLLRKYI GYARQYVYPR LSTEAARVLQ DFYLELRKQS QRLNSSPITT RQLESLIRLT
EARARLELRE EATKEDAEDI VEIMKYSMLG TYSDEFGNLD FERSQHGSGM SNRSTAKRFI
SALNNVAERT YNNIFQFHQL RQIAKELNIQ VADFENFIGS LNDQGYLLKK GPKVYQLQTM
*
speed 1.09 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