Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 0.99999713900237 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • homozygous in TGP or ExAC
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr12:68720627G>AN/A show variant in all transcripts   IGV
HGNC symbol MDM1
Ensembl transcript ID ENST00000540418
Genbank transcript ID N/A
UniProt peptide N/A
alteration type single base exchange
alteration region intron
DNA changes g.5535C>T
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs962976
databasehomozygous (A/A)heterozygousallele carriers
1000G118810052193
ExAC29833-268992934
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.0110.018
0.0150.012
(flanking)1.8190.014
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 increased5538wt: 0.9756 / mu: 0.9808 (marginal change - not scored)wt: TACTCAAGAAAGAGT
mu: TATTCAAGAAAGAGT		 CTCA|agaa
distance from splice site 1272
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features N/A
length of protein N/A
AA sequence altered N/A
position of stopcodon in wt / mu CDS N/A
position (AA) of stopcodon in wt / mu AA sequence N/A
position of stopcodon in wt / mu cDNA N/A
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 517 / 517
chromosome 12
strand -1
last intron/exon boundary 1709
theoretical NMD boundary in CDS 1142
length of CDS 1305
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 N/A
gDNA position
(for ins/del: last normal base / first normal base)		 5535
chromosomal position
(for ins/del: last normal base / first normal base)		 68720627
original gDNA sequence snippet AGCAGAACAAAAGGATGTTACTCAAGAAAGAGTTCACTCAC
altered gDNA sequence snippet AGCAGAACAAAAGGATGTTATTCAAGAAAGAGTTCACTCAC
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence 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 N/A
speed 0.93 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