Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999011 (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) chr6:31379115G>AN/A show variant in all transcripts   IGV
HGNC symbol MICA
Ensembl transcript ID ENST00000364810
Genbank transcript ID NM_001177519
UniProt peptide Q29983
alteration type single base exchange
alteration region CDS
DNA changes c.592G>A
cDNA.995G>A
g.11555G>A
AA changes G198S Score: 56 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 198
frameshift no
known variant Reference ID: rs1131896
databasehomozygous (A/A)heterozygousallele carriers
1000G32410821406
ExAC25071202914536
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)-0.2160
-1.3910
(flanking)1.1160.001
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased11555wt: 0.9886 / mu: 0.9983 (marginal change - not scored)wt: AATCCGGCGTAGTCC
mu: AATCCAGCGTAGTCC		 TCCG|gcgt
Donor marginally increased11552wt: 0.4788 / mu: 0.5483 (marginal change - not scored)wt: TAGAATCCGGCGTAG
mu: TAGAATCCAGCGTAG		 GAAT|ccgg
distance from splice site 22
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      198CLQELRRYLESGVVLRRTVPPMVN
mutated  not conserved    198CLQELRRYLESSVVLRRTVPPMV
Ptroglodytes  all identical  ENSPTRG00000017957  198CRQKLKRYLESGVVLRRTVPPMV
Mmulatta  not conserved  ENSMMUG00000006609  198CLKKLRRYQKSRVAVRRTVPPMV
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  196CVSHLKLYLPYLKKDLEKKVPPKV
protein features
start (aa)end (aa)featuredetails 
24307TOPO_DOMExtracellular (Potential).lost
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 1402 / 1402
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 404 / 404
chromosome 6
strand 1
last intron/exon boundary 1432
theoretical NMD boundary in CDS 978
length of CDS 999
coding sequence (CDS) position 592
cDNA position
(for ins/del: last normal base / first normal base)		 995
gDNA position
(for ins/del: last normal base / first normal base)		 11555
chromosomal position
(for ins/del: last normal base / first normal base)		 31379115
original gDNA sequence snippet TACGGCGATATCTAGAATCCGGCGTAGTCCTGAGGAGAACA
altered gDNA sequence snippet TACGGCGATATCTAGAATCCAGCGTAGTCCTGAGGAGAACA
original cDNA sequence snippet TACGGCGATATCTAGAATCCGGCGTAGTCCTGAGGAGAACA
altered cDNA sequence snippet TACGGCGATATCTAGAATCCAGCGTAGTCCTGAGGAGAACA
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 LRRYLESSVV LRRTVPPMVN VTRSEASEGN ITVTCRASSF YPRNIILTWR
QDGVSLSHDT QQWGDVLPDG NGTYQTWVAT RICRGEEQRF TCYMEHSGNH STHPVPSGKV
LVLQSHWQTF HVSAVAAGCC YFCYYYFLCP LL*
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