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 ENST00000376222
Genbank transcript ID N/A
UniProt peptide Q29983
alteration type single base exchange
alteration region CDS
DNA changes c.178G>A
cDNA.1330G>A
g.11555G>A
AA changes G60S Score: 56 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 60
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      60CLQELRRYLESGVVLRRTVPPMVN
mutated  not conserved    60CLQELRRYLESSVVLRRTVPPMV
Ptroglodytes  all identical  ENSPTRG00000017957  197CRQKLKRYLESGVVLR
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  190CVSHLKLYLPYLKKDLEKKVPPKV
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 585 / 585
position (AA) of stopcodon in wt / mu AA sequence 195 / 195
position of stopcodon in wt / mu cDNA 1737 / 1737
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 1153 / 1153
chromosome 6
strand 1
last intron/exon boundary 1767
theoretical NMD boundary in CDS 564
length of CDS 585
coding sequence (CDS) position 178
cDNA position
(for ins/del: last normal base / first normal base)		 1330
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 MGQRDQGLDR ERKGPQDDPG SYQGPERRNF LKEDAMKTKT HYHAMHADCL QELRRYLESG
VVLRRTVPPM VNVTRSEASE GNITVTCRAS SFYPRNIILT WRQDGVSLSH DTQQWGDVLP
DGNGTYQTWV ATRICRGEEQ RFTCYMEHSG NHSTHPVPSG KVLVLQSHWQ TFHVSAVAAG
CCYFCYYYFL CPLL*
mutated AA sequence MGQRDQGLDR ERKGPQDDPG SYQGPERRNF LKEDAMKTKT HYHAMHADCL QELRRYLESS
VVLRRTVPPM VNVTRSEASE GNITVTCRAS SFYPRNIILT WRQDGVSLSH DTQQWGDVLP
DGNGTYQTWV ATRICRGEEQ RFTCYMEHSG NHSTHPVPSG KVLVLQSHWQ TFHVSAVAAG
CCYFCYYYFL CPLL*
speed 1.06 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