Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999823 (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
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analysed issue analysis result
name of alteration no title
alteration (phys. location) chr6:31473561A>GN/A show variant in all transcripts   IGV
HGNC symbol MICB
Ensembl transcript ID ENST00000399150
Genbank transcript ID N/A
UniProt peptide Q29980
alteration type single base exchange
alteration region CDS
DNA changes c.238A>G
cDNA.346A>G
g.10904A>G
AA changes K80E Score: 56 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 80
frameshift no
known variant Reference ID: rs1065075
databasehomozygous (G/G)heterozygousallele carriers
1000G2139911204
ExAC54942177927273
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.4850
-1.2040
(flanking)0.0430
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 88
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      80QGQWAENVLGAKTWDTETEDLTEN
mutated  all conserved    80QGQWAENVLGAETWDTETEDLTE
Ptroglodytes  no homologue    
Mmulatta  not conserved  ENSMMUG00000006609  87QGQWAEAVLG----DQETEDLTE
Fcatus  no homologue    
Mmusculus  no homologue    
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no alignment  ENSXETG00000030689  n/a
protein features
start (aa)end (aa)featuredetails 
23309TOPO_DOMExtracellular (Potential).lost
80101HELIXlost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1023 / 1023
position (AA) of stopcodon in wt / mu AA sequence 341 / 341
position of stopcodon in wt / mu cDNA 1131 / 1131
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 109 / 109
chromosome 6
strand 1
last intron/exon boundary 1004
theoretical NMD boundary in CDS 845
length of CDS 1023
coding sequence (CDS) position 238
cDNA position
(for ins/del: last normal base / first normal base)		 346
gDNA position
(for ins/del: last normal base / first normal base)		 10904
chromosomal position
(for ins/del: last normal base / first normal base)		 31473561
original gDNA sequence snippet CAGAAAATGTCCTGGGAGCTAAGACCTGGGACACAGAGACC
altered gDNA sequence snippet CAGAAAATGTCCTGGGAGCTGAGACCTGGGACACAGAGACC
original cDNA sequence snippet CAGAAAATGTCCTGGGAGCTAAGACCTGGGACACAGAGACC
altered cDNA sequence snippet CAGAAAATGTCCTGGGAGCTGAGACCTGGGACACAGAGACC
wildtype AA sequence MGLGRVLLFL AVAFPFAPPA AAAEPHSLRY NLMVLSQDGS VQSGFLAEGH LDGQPFLRYD
RQKRRAKPQG QWAENVLGAK TWDTETEDLT ENGQDLRRTL THIKDQKGVP QSSRAQTLAM
NVTNFWKEDA MKTKTHYRAM QADCLQKLQR YLKSGVAIRR TVPPMVNVTC SEVSEGNITV
TCRASSFYPR NITLTWRQDG VSLSHNTQQW GDVLPDGNGT YQTWVATRIR QGEEQRFTCY
MEHSGNHGTH PVPSGKALVL QSQRTDFPYV SAAMPCFVII IILCVPCCKK KTSAAEGPEL
VSLQVLDQHP VGTGDHRDAA QLGFQPLMSA TGSTGSTEGT *
mutated AA sequence MGLGRVLLFL AVAFPFAPPA AAAEPHSLRY NLMVLSQDGS VQSGFLAEGH LDGQPFLRYD
RQKRRAKPQG QWAENVLGAE TWDTETEDLT ENGQDLRRTL THIKDQKGVP QSSRAQTLAM
NVTNFWKEDA MKTKTHYRAM QADCLQKLQR YLKSGVAIRR TVPPMVNVTC SEVSEGNITV
TCRASSFYPR NITLTWRQDG VSLSHNTQQW GDVLPDGNGT YQTWVATRIR QGEEQRFTCY
MEHSGNHGTH PVPSGKALVL QSQRTDFPYV SAAMPCFVII IILCVPCCKK KTSAAEGPEL
VSLQVLDQHP VGTGDHRDAA QLGFQPLMSA TGSTGSTEGT *
speed 0.87 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