Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999998872 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM0910116)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr6:31379109G>AN/A show variant in all transcripts   IGV
HGNC symbol MICA
Ensembl transcript ID ENST00000449934
Genbank transcript ID NM_001177519
UniProt peptide Q29983
alteration type single base exchange
alteration region CDS
DNA changes c.586G>A
cDNA.625G>A
g.11549G>A
AA changes E196K Score: 56 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 196
frameshift no
known variant Reference ID: rs1051794
databasehomozygous (A/A)heterozygousallele carriers
1000G34711321479
ExAC39171477618693

known disease mutation at this position, please check HGMD for details (HGMD ID CM0910116)
regulatory features DNase1, Open Chromatin, DNase1 Hypersensitive Site
Gene Associated, Regulatory Feature, Gene associated regulatory feature
H2BK5me1, Histone, Histone 2B Lysine 5 mono-methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me1, Histone, Histone 3 Lysine 9 mono-methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.1420
-0.3140
(flanking)-0.3860
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased11545wt: 0.32 / mu: 0.93wt: CGATATCTAGAATCC
mu: CGATATCTAAAATCC		 ATAT|ctag
Donor increased11552wt: 0.48 / mu: 0.59wt: TAGAATCCGGCGTAG
mu: TAAAATCCGGCGTAG		 GAAT|ccgg
distance from splice site 28
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      196ADCLQELRRYLESGVVLRRTVPPM
mutated  all conserved    196ADCLQELRRYLKSGVVLRRTVPP
Ptroglodytes  all identical  ENSPTRG00000017957  196ADCRQKLKRYLESGVVLRRTVPP
Mmulatta  all conserved  ENSMMUG00000006609  196ADCLKKLRRYQKSRVAVRRTVPP
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  194HECVSHLKLYLPYLKKDLEKKVPP
protein features
start (aa)end (aa)featuredetails 
24307TOPO_DOMExtracellular (Potential).lost
177196HELIXlost
207296DOMAINIg-like C1-type.might get lost (downstream of altered splice site)
208213STRANDmight get lost (downstream of altered splice site)
210210CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
217233STRANDmight get lost (downstream of altered splice site)
220220CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
225225DISULFIDmight get lost (downstream of altered splice site)
236241STRANDmight get lost (downstream of altered splice site)
248250TURNmight get lost (downstream of altered splice site)
251253STRANDmight get lost (downstream of altered splice site)
260262STRANDmight get lost (downstream of altered splice site)
261261CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
264273STRANDmight get lost (downstream of altered splice site)
277279HELIXmight get lost (downstream of altered splice site)
280286STRANDmight get lost (downstream of altered splice site)
282282DISULFIDmight get lost (downstream of altered splice site)
289294STRANDmight get lost (downstream of altered splice site)
308328TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
329383TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 999 / 999
position (AA) of stopcodon in wt / mu AA sequence 333 / 333
position of stopcodon in wt / mu cDNA 1038 / 1038
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 40 / 40
chromosome 6
strand 1
last intron/exon boundary 1068
theoretical NMD boundary in CDS 978
length of CDS 999
coding sequence (CDS) position 586
cDNA position
(for ins/del: last normal base / first normal base)		 625
gDNA position
(for ins/del: last normal base / first normal base)		 11549
chromosomal position
(for ins/del: last normal base / first normal base)		 31379109
original gDNA sequence snippet AGGAACTACGGCGATATCTAGAATCCGGCGTAGTCCTGAGG
altered gDNA sequence snippet AGGAACTACGGCGATATCTAAAATCCGGCGTAGTCCTGAGG
original cDNA sequence snippet AGGAACTACGGCGATATCTAGAATCCGGCGTAGTCCTGAGG
altered cDNA sequence snippet AGGAACTACGGCGATATCTAAAATCCGGCGTAGTCCTGAGG
wildtype AA sequence MGLGPVFLLL AGIFPFAPPG AAAEPHSLRY NLTVLSWDGS VQSGFLAEVH LDGQPFLRYD
RQKCRAKPQG QWAEDVLGNK TWDRETRDLT GNGKDLRMTL AHIKDQKEGL HSLQEIRVCE
IHEDNSTRSS QHFYYDGELF LSQNLETEEW TVPQSSRAQT LAMNVRNFLK EDAMKTKTHY
HAMHADCLQE LRRYLESGVV LRRTVPPMVN VTRSEASEGN ITVTCRASSF YPRNIILTWR
QDGVSLSHDT QQWGDVLPDG NGTYQTWVAT RICRGEEQRF TCYMEHSGNH STHPVPSGKV
LVLQSHWQTF HVSAVAAGCC YFCYYYFLCP LL*
mutated AA sequence MGLGPVFLLL AGIFPFAPPG AAAEPHSLRY NLTVLSWDGS VQSGFLAEVH LDGQPFLRYD
RQKCRAKPQG QWAEDVLGNK TWDRETRDLT GNGKDLRMTL AHIKDQKEGL HSLQEIRVCE
IHEDNSTRSS QHFYYDGELF LSQNLETEEW TVPQSSRAQT LAMNVRNFLK EDAMKTKTHY
HAMHADCLQE LRRYLKSGVV LRRTVPPMVN VTRSEASEGN ITVTCRASSF YPRNIILTWR
QDGVSLSHDT QQWGDVLPDG NGTYQTWVAT RICRGEEQRF TCYMEHSGNH STHPVPSGKV
LVLQSHWQTF HVSAVAAGCC YFCYYYFLCP LL*
speed 1.35 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