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 ENST00000358276
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 84 / 84
chromosome 6
strand 1
last intron/exon boundary 951
theoretical NMD boundary in CDS 817
length of CDS 873
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 MTSCILSGSI QTTPQVSAGG SEAKPLIFTF VPTVRRLPTH TQLADTSKFL VKIPEESSDK
SPETVNRSKS NDYLTLNAGS QQERDQAKLT CPSEVSGTIL QEREFEANKL QGMQQSDLFK
AEYVLIVDSE GEDEAASRKV EQGPPGGIGT AAVRPKSLAI SSSLVSDVVR PKTQGTDLKT
SSHPEMLHGM APQQKHGQTP TTLPRAAGRE TKYANLSSPS STVSESQLTK PGVIRPVPVK
SRILLKKEEE VYEPNPFSKY LEDNSDLFSE QLSHPMVAIP EHEALDSKEQ *
mutated AA sequence N/A
speed 0.78 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