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 ENST00000411698
Genbank transcript ID NM_001205028
UniProt peptide Q8TC05
alteration type single base exchange
alteration region CDS
DNA changes c.1361G>A
cDNA.1402G>A
g.17401G>A
AA changes R454H Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 454
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      454AFMGEQEKLDVREKSKADKMKEGS
mutated  not conserved    454AFMGEQEKLDVHEKSKADKMKEG
Ptroglodytes  not conserved  ENSPTRG00000005196  489AFMGEQEKSDVHEKSKADKMKEG
Mmulatta  not conserved  ENSMMUG00000018725  494AFMGEQEKLDVHEKSKADKMKEG
Fcatus  no alignment  ENSFCAG00000018582  n/a
Mmusculus  not conserved  ENSMUSG00000020212  499TCAVELEKPDT-QTPKADRLTEG
Ggallus  not conserved  ENSGALG00000009905  451AAVVTQNLEKNNEGINEDNRI
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000045675  478NGMERNERLNSLESESLSSAEEG
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000001452  492AISEEVKRPDRLHSTTTNPSVDG
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2040 / 2040
position (AA) of stopcodon in wt / mu AA sequence 680 / 680
position of stopcodon in wt / mu cDNA 2081 / 2081
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 42 / 42
chromosome 12
strand -1
last intron/exon boundary 1969
theoretical NMD boundary in CDS 1877
length of CDS 2040
coding sequence (CDS) position 1361
cDNA position
(for ins/del: last normal base / first normal base)		 1402
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 ENVDNGVFHN KSQFVPPFKG
NSVIHETEYK RNFKGLSPVK EPKLRNDLRE NRNLETVSPE RKSNKIDDRL KLEAEMELKD
LHQPKRKLTP WKHQRLGKVN SEYRAKFLSP AQYLYKAGAW THVKGNMPNQ GSLNAMWYAE
VKELREKAEF YRKRVQGTHF SRDHLNQILS DSNCCWDVSS TTSSEGTVSS NIRALDLAGD
PTSHKTLQKC PSTEPEEKGN IVEEQPQKNT TEKLGVSAPT IPVRRRLAWD TENTSEDVQK
QPGEKEEEDD NEEEGDRKTG KQAFMGEQEK LDVREKSKAD KMKEGSDSSV SSEKGGRLPT
PKLRELGGIQ RTHHDLTTPA VGGAVLVSPS KMKPPAPEQR KRMTSQDCLE TSKNDFTKKE
SRAVSLLTSP AAGIKTVDPL PLREDSEDNI HKFAEATLPV SKIPKYPTNP PGQLPSPPHV
PSYWHPSRRI QGSLRDPEFQ HNVGKARMNN LQLPQHEAFN DEDEDRLSEI SARSAASSLR
AFQTLARAKK RKENFWGKT*
mutated AA sequence MPVRFKGLSE YQRNFLWKKS YLSESCNSSV GRKYPWAGLR SDQLGITKEP SFISKRRVPY
HDPQISKSLE WNGAISESNV VASPEPEAPE TPKSQEAEQK DVTQERVHSL EASRVPKRTR
SHSADSRAEG ASDVENNEGV TNHTPVNENV ELEHSTKVLS ENVDNGVFHN KSQFVPPFKG
NSVIHETEYK RNFKGLSPVK EPKLRNDLRE NRNLETVSPE RKSNKIDDRL KLEAEMELKD
LHQPKRKLTP WKHQRLGKVN SEYRAKFLSP AQYLYKAGAW THVKGNMPNQ GSLNAMWYAE
VKELREKAEF YRKRVQGTHF SRDHLNQILS DSNCCWDVSS TTSSEGTVSS NIRALDLAGD
PTSHKTLQKC PSTEPEEKGN IVEEQPQKNT TEKLGVSAPT IPVRRRLAWD TENTSEDVQK
QPGEKEEEDD NEEEGDRKTG KQAFMGEQEK LDVHEKSKAD KMKEGSDSSV SSEKGGRLPT
PKLRELGGIQ RTHHDLTTPA VGGAVLVSPS KMKPPAPEQR KRMTSQDCLE TSKNDFTKKE
SRAVSLLTSP AAGIKTVDPL PLREDSEDNI HKFAEATLPV SKIPKYPTNP PGQLPSPPHV
PSYWHPSRRI QGSLRDPEFQ HNVGKARMNN LQLPQHEAFN DEDEDRLSEI SARSAASSLR
AFQTLARAKK RKENFWGKT*
speed 0.59 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