Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 0.999999975415389 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • 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) chr6:54002231A>CN/A show variant in all transcripts   IGV
HGNC symbol MLIP
Ensembl transcript ID ENST00000370876
Genbank transcript ID N/A
UniProt peptide Q5VWP3
alteration type single base exchange
alteration region intron
DNA changes g.207452A>C
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs2754779
databasehomozygous (C/C)heterozygousallele carriers
1000G3248791203
ExAC28719472234
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.1590.028
-0.2730.002
(flanking)-0.8830.002
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased207443wt: 0.85 / mu: 0.94wt: ACTTGACCAAAAAGA
mu: ACTTGACCAAAAAGC		 TTGA|ccaa
Donor marginally increased207445wt: 0.9134 / mu: 0.9168 (marginal change - not scored)wt: TTGACCAAAAAGAAA
mu: TTGACCAAAAAGCAA		 GACC|aaaa
distance from splice site 12568
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
355355CONFLICTN -> T (in Ref. 3; AAH09010).might get lost (downstream of altered splice site)
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 47 / 47
chromosome 6
strand 1
last intron/exon boundary 746
theoretical NMD boundary in CDS 649
length of CDS 705
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)		 207452
chromosomal position
(for ins/del: last normal base / first normal base)		 54002231
original gDNA sequence snippet GCTCACACTTGACCAAAAAGAAAAGCAGACCCCACCCACGC
altered gDNA sequence snippet GCTCACACTTGACCAAAAAGCAAAGCAGACCCCACCCACGC
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MCSWYLGFEC SSKSNDYLTL NAGSQQERDQ AKLTCPSEVS GTILQEREFE ANKLQGMQQS
DLFKAEYVLI VDSEGEDEAA SRKVEQGPPG GIGTAAVRPK SLAISSSLVS DVVRPKTQGT
DLKTSSHPEM LHGMAPQQKH GQTPTTLPRA AGRETKYANL SSPSSTVSES QLTKPGVIRP
VPVKSRILLK KEEEVYEPNP FSKYLEDNSD LFSEQLSHPM VAIPEHEALD SKEQ*
mutated AA sequence N/A
speed 0.72 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