Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999882 (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
 hyperlink
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 ENST00000538442
Genbank transcript ID N/A
UniProt peptide Q29980
alteration type single base exchange
alteration region CDS
DNA changes c.142A>G
cDNA.283A>G
g.10904A>G
AA changes K48E Score: 56 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 48
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      48QGQWAENVLGAKTWDTETEDLTEN
mutated  all conserved    48QGQWAENVLGAETWDTETEDLTE
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  not conserved  ENSXETG00000030689  76LIQ-------------SLRDLFE
protein features
start (aa)end (aa)featuredetails 
23309TOPO_DOMExtracellular (Potential).lost
4651STRANDlost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1056 / 1056
position (AA) of stopcodon in wt / mu AA sequence 352 / 352
position of stopcodon in wt / mu cDNA 1197 / 1197
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 142 / 142
chromosome 6
strand 1
last intron/exon boundary 1070
theoretical NMD boundary in CDS 878
length of CDS 1056
coding sequence (CDS) position 142
cDNA position
(for ins/del: last normal base / first normal base)		 283
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 MVLSQDGSVQ SGFLAEGHLD GQPFLRYDRQ KRRAKPQGQW AENVLGAKTW DTETEDLTEN
GQDLRRTLTH IKDQKGGLHS LQEIRVCEIH EDSSTRGSRH FYYDGELFLS QNLETQESTV
PQSSRAQTLA MNVTNFWKED AMKTKTHYRA MQADCLQKLQ RYLKSGVAIR RTVPPMVNVT
CSEVSEGNIT VTCRASSFYP RNITLTWRQD GVSLSHNTQQ WGDVLPDGNG TYQTWVATRI
RQGEEQRFTC YMEHSGNHGT HPVPSGKALV LQSQRTDFPY VSAAMPCFVI IIILCVPCCK
KKTSAAEGPE LVSLQVLDQH PVGTGDHRDA AQLGFQPLMS ATGSTGSTEG T*
mutated AA sequence MVLSQDGSVQ SGFLAEGHLD GQPFLRYDRQ KRRAKPQGQW AENVLGAETW DTETEDLTEN
GQDLRRTLTH IKDQKGGLHS LQEIRVCEIH EDSSTRGSRH FYYDGELFLS QNLETQESTV
PQSSRAQTLA MNVTNFWKED AMKTKTHYRA MQADCLQKLQ RYLKSGVAIR RTVPPMVNVT
CSEVSEGNIT VTCRASSFYP RNITLTWRQD GVSLSHNTQQ WGDVLPDGNG TYQTWVATRI
RQGEEQRFTC YMEHSGNHGT HPVPSGKALV LQSQRTDFPY VSAAMPCFVI IIILCVPCCK
KKTSAAEGPE LVSLQVLDQH PVGTGDHRDA AQLGFQPLMS ATGSTGSTEG T*
speed 0.79 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