Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999984031 (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) chr12:68720627G>AN/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.308C>T
cDNA.349C>T
g.5535C>T
AA changes T103I Score: 89 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 103
frameshift no
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 175
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      103PKSQEAEQKDVTQERVHSLEASRV
mutated  not conserved    103PKSQEAEQKDVIQERVHSLEASR
Ptroglodytes  all identical  ENSPTRG00000005196  103PKSQEAEQKDVTQERVHSLEASR
Mmulatta  all identical  ENSMMUG00000018725  103PKSQEAEQKDVTQERVDSLEASR
Fcatus  no alignment  ENSFCAG00000018582  n/a
Mmusculus  not conserved  ENSMUSG00000020212  103PKPQEAEQGEDANQEAVLSLEASR
Ggallus  not conserved  ENSGALG00000009905  100AESLAEHSNDVNQENTETPEGPR
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000045675  100LRATSAERQ------VTPLAPRD
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000001452  101LRL-DLDRESLAEEKLHTPDAPR
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 308
cDNA position
(for ins/del: last normal base / first normal base)		 349
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 AGCAGAACAAAAGGATGTTACTCAAGAAAGAGTTCACTCAC
altered cDNA sequence snippet AGCAGAACAAAAGGATGTTATTCAAGAAAGAGTTCACTCAC
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 DVIQERVHSL 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*
speed 1.30 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