Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999611329634904 (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) chr6:53883843G>AN/A show variant in all transcripts   IGV
HGNC symbol MLIP
Ensembl transcript ID ENST00000370877
Genbank transcript ID N/A
UniProt peptide Q5VWP3
alteration type single base exchange
alteration region CDS
DNA changes c.17G>A
cDNA.119G>A
g.89064G>A
AA changes R6H Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 6
frameshift no
known variant Reference ID: rs17625497
databasehomozygous (A/A)heterozygousallele carriers
1000G131725856
ExAC42412202226263
regulatory features DNase1, Open Chromatin, DNase1 Hypersensitive Site
phyloP / phastCons
PhyloPPhastCons
(flanking)1.8361
1.3211
(flanking)1.311
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased89065wt: 0.84 / mu: 0.95wt: AAGCGTGAAAAAAGA
mu: AAGCATGAAAAAAGA		 GCGT|gaaa
Donor marginally increased89067wt: 0.9668 / mu: 0.9820 (marginal change - not scored)wt: GCGTGAAAAAAGAAG
mu: GCATGAAAAAAGAAG		 GTGA|aaaa
Donor marginally increased89056wt: 0.9952 / mu: 0.9953 (marginal change - not scored)wt: GAACTTGAAAAGCGT
mu: GAACTTGAAAAGCAT		 ACTT|gaaa
distance from splice site 47
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      6 MELEKREKRSLLNKNLEE
mutated  not conserved    6 MELEKHEKRSLLNKNLEEKLTS
Ptroglodytes  all identical  ENSPTRG00000018294  6 MELEKREKRSLLNKNLEEKLMVSAGGSEAKPLIFTFVPTVRRLPTHTQLADTSKFLVKIP
Mmulatta  not conserved  ENSMMUG00000012781  6 MELEKHEKRSLLNKNLEEKLTVSAGGSEAKPLIFTFVPTVRRLPTHTQLTDTSKFLVKIP
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000032355  6 MEFGKHEPGSSLKRNKNLEEGVTF
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no alignment  ENSDARG00000089920  n/a
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
140REGIONInteraction with LMNA.lost
355355CONFLICTN -> T (in Ref. 3; AAH09010).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 807 / 807
position (AA) of stopcodon in wt / mu AA sequence 269 / 269
position of stopcodon in wt / mu cDNA 909 / 909
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 103 / 103
chromosome 6
strand 1
last intron/exon boundary 904
theoretical NMD boundary in CDS 751
length of CDS 807
coding sequence (CDS) position 17
cDNA position
(for ins/del: last normal base / first normal base)		 119
gDNA position
(for ins/del: last normal base / first normal base)		 89064
chromosomal position
(for ins/del: last normal base / first normal base)		 53883843
original gDNA sequence snippet CAATATGGAACTTGAAAAGCGTGAAAAAAGAAGCTTATTAA
altered gDNA sequence snippet CAATATGGAACTTGAAAAGCATGAAAAAAGAAGCTTATTAA
original cDNA sequence snippet CAATATGGAACTTGAAAAGCGTGAAAAAAGAAGCTTATTAA
altered cDNA sequence snippet CAATATGGAACTTGAAAAGCATGAAAAAAGAAGCTTATTAA
wildtype AA sequence MELEKREKRS LLNKNLEEKL TSKSNDYLTL NAGSQQERDQ AKLTCPSEVS GTILQEREFE
ANKLQGMQQS DLFKAEYVLI VDSEGEDEAA SRKVEQGPPG GIGTAAVRPK SLAISSSLVS
DVVRPKTQGT DLKTSSHPEM LHGMAPQQKH GQALDEPAKT ESVSKDNTLE PPVEHSSDSP
SRSPKTLLGS DTVKTPTTLP RAAGRETKYA NLSSPSSTVS ESQLTKPGVI RPVPVKSRIL
LKKEEEVYEP NPFSKYLEDN SDLFSEQQ*
mutated AA sequence MELEKHEKRS LLNKNLEEKL TSKSNDYLTL NAGSQQERDQ AKLTCPSEVS GTILQEREFE
ANKLQGMQQS DLFKAEYVLI VDSEGEDEAA SRKVEQGPPG GIGTAAVRPK SLAISSSLVS
DVVRPKTQGT DLKTSSHPEM LHGMAPQQKH GQALDEPAKT ESVSKDNTLE PPVEHSSDSP
SRSPKTLLGS DTVKTPTTLP RAAGRETKYA NLSSPSSTVS ESQLTKPGVI RPVPVKSRIL
LKKEEEVYEP NPFSKYLEDN SDLFSEQQ*
speed 1.45 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