Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999934 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr12:68708761C>TN/A show variant in all transcripts   IGV
HGNC symbol MDM1
Ensembl transcript ID ENST00000303145
Genbank transcript ID NM_017440
UniProt peptide Q8TC05
alteration type single base exchange
alteration region CDS
DNA changes c.1466G>A
cDNA.1553G>A
g.17401G>A
AA changes R489H Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 489
frameshift no
known variant Reference ID: rs2306393
databasehomozygous (T/T)heterozygousallele carriers
1000G12389662204
ExAC30254-277412513
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.3090.056
0.2530.047
(flanking)1.4470.044
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased17404wt: 0.8492 / mu: 0.9134 (marginal change - not scored)wt: ACGTGAGAAATCTAA
mu: ACATGAGAAATCTAA		 GTGA|gaaa
Donor marginally increased17402wt: 0.9890 / mu: 0.9921 (marginal change - not scored)wt: GTACGTGAGAAATCT
mu: GTACATGAGAAATCT		 ACGT|gaga
distance from splice site 34
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      489AFMGEQEKLDVREKSKADKMKEGS
mutated  not conserved    489GEQEKLDVHEKSKADKMKEG
Ptroglodytes  not conserved  ENSPTRG00000005196  489GEQEKSDVHEKSKADKMKEG
Mmulatta  not conserved  ENSMMUG00000018725  494AFMGEQEKLDVHEKSKADKMKEG
Fcatus  no alignment  ENSFCAG00000018582  n/a
Mmusculus  not conserved  ENSMUSG00000020212  499TCAVELEKPDT-QTPKADRLTEG
Ggallus  not conserved  ENSGALG00000009905  451EGINEDNRIEGENTCLLNSPAAV
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000045675  484NGMERNERLNSLESESLSSAEEG
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000001452  493AISEEVKRPDRLHSTTTNPSVDG
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2145 / 2145
position (AA) of stopcodon in wt / mu AA sequence 715 / 715
position of stopcodon in wt / mu cDNA 2232 / 2232
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 88 / 88
chromosome 12
strand -1
last intron/exon boundary 2120
theoretical NMD boundary in CDS 1982
length of CDS 2145
coding sequence (CDS) position 1466
cDNA position
(for ins/del: last normal base / first normal base)		 1553
gDNA position
(for ins/del: last normal base / first normal base)		 17401
chromosomal position
(for ins/del: last normal base / first normal base)		 68708761
original gDNA sequence snippet GCAAGAGAAGTTGGATGTACGTGAGAAATCTAAGGCAGATA
altered gDNA sequence snippet GCAAGAGAAGTTGGATGTACATGAGAAATCTAAGGCAGATA
original cDNA sequence snippet GCAAGAGAAGTTGGATGTACGTGAGAAATCTAAGGCAGATA
altered cDNA sequence snippet GCAAGAGAAGTTGGATGTACATGAGAAATCTAAGGCAGATA
wildtype AA sequence MPVRFKGLSE YQRNFLWKKS YLSESCNSSV GRKYPWAGLR SDQLGITKEP SFISKRRVPY
HDPQISKSLE WNGAISESNV VASPEPEAPE TPKSQEAEQK DVTQERVHSL EASRVPKRTR
SHSADSRAEG ASDVENNEGV TNHTPVNENV ELEHSTKVLS ENVDNGLDRL LRKKAGLTVV
PSYNALRNSE YQRQFVWKTS KETAPAFAAN QVFHNKSQFV PPFKGNSVIH ETEYKRNFKG
LSPVKEPKLR NDLRENRNLE TVSPERKSNK IDDRLKLEAE MELKDLHQPK RKLTPWKHQR
LGKVNSEYRA KFLSPAQYLY KAGAWTHVKG NMPNQVKELR EKAEFYRKRV QGTHFSRDHL
NQILSDSNCC WDVSSTTSSE GTVSSNIRAL DLAGDPTSHK TLQKCPSTEP EEKGNIVEEQ
PQKNTTEKLG VSAPTIPVRR RLAWDTENTS EDVQKQPGEK EEEDDNEEEG DRKTGKQAFM
GEQEKLDVRE KSKADKMKEG SDSSVSSEKG GRLPTPKLRE LGGIQRTHHD LTTPAVGGAV
LVSPSKMKPP APEQRKRMTS QDCLETSKND FTKKESRAVS LLTSPAAGIK TVDPLPLRED
SEDNIHKFAE ATLPVSKIPK YPTNPPGQLP SPPHVPSYWH PSRRIQGSLR DPEFQHNVGK
ARMNNLQLPQ HEAFNDEDED RLSEISARSA ASSLRAFQTL ARAKKRKENF WGKT*
mutated AA sequence MPVRFKGLSE YQRNFLWKKS YLSESCNSSV GRKYPWAGLR SDQLGITKEP SFISKRRVPY
HDPQISKSLE WNGAISESNV VASPEPEAPE TPKSQEAEQK DVTQERVHSL EASRVPKRTR
SHSADSRAEG ASDVENNEGV TNHTPVNENV ELEHSTKVLS ENVDNGLDRL LRKKAGLTVV
PSYNALRNSE YQRQFVWKTS KETAPAFAAN QVFHNKSQFV PPFKGNSVIH ETEYKRNFKG
LSPVKEPKLR NDLRENRNLE TVSPERKSNK IDDRLKLEAE MELKDLHQPK RKLTPWKHQR
LGKVNSEYRA KFLSPAQYLY KAGAWTHVKG NMPNQVKELR EKAEFYRKRV QGTHFSRDHL
NQILSDSNCC WDVSSTTSSE GTVSSNIRAL DLAGDPTSHK TLQKCPSTEP EEKGNIVEEQ
PQKNTTEKLG VSAPTIPVRR RLAWDTENTS EDVQKQPGEK EEEDDNEEEG DRKTGKQAFM
GEQEKLDVHE KSKADKMKEG SDSSVSSEKG GRLPTPKLRE LGGIQRTHHD LTTPAVGGAV
LVSPSKMKPP APEQRKRMTS QDCLETSKND FTKKESRAVS LLTSPAAGIK TVDPLPLRED
SEDNIHKFAE ATLPVSKIPK YPTNPPGQLP SPPHVPSYWH PSRRIQGSLR DPEFQHNVGK
ARMNNLQLPQ HEAFNDEDED RLSEISARSA ASSLRAFQTL ARAKKRKENF WGKT*
speed 0.54 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