Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999972 (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 CM1314936)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr6:31379817T>CN/A show variant in all transcripts   IGV
HGNC symbol MICA
Ensembl transcript ID ENST00000399172
Genbank transcript ID N/A
UniProt peptide Q29983
alteration type single base exchange
alteration region CDS
DNA changes c.578T>C
cDNA.672T>C
g.12257T>C
AA changes I193T Score: 89 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 193
frameshift no
known variant Reference ID: rs1140700
databasehomozygous (C/C)heterozygousallele carriers
1000G91010972007
ExAC14124451918643

known disease mutation at this position, please check HGMD for details (HGMD ID CM1314936)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.5580
-0.9310
(flanking)-1.1810
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased12249wt: 0.44 / mu: 0.49wt: GCTTCCAGCTTCTATCCCCGGAATATCATACTGACCTGGCG
mu: GCTTCCAGCTTCTATCCCCGGAATATCACACTGACCTGGCG		 ccgg|AATA
Acc marginally increased12248wt: 0.8416 / mu: 0.8431 (marginal change - not scored)wt: GGCTTCCAGCTTCTATCCCCGGAATATCATACTGACCTGGC
mu: GGCTTCCAGCTTCTATCCCCGGAATATCACACTGACCTGGC		 cccg|GAAT
distance from splice site 94
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      193CRASSFYPRNIILTWRQDGVSLSH
mutated  not conserved    193CRASSFYPRNITLTWRQDGVSLS
Ptroglodytes  not conserved  ENSPTRG00000017957  236CWASSFYPRNITLTWR
Mmulatta  not conserved  ENSMMUG00000006609  236CRASGFYPGNITLTWRQD
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  228CRVYGFYPRDVEVKWIK
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 870 / 870
position (AA) of stopcodon in wt / mu AA sequence 290 / 290
position of stopcodon in wt / mu cDNA 964 / 964
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 95 / 95
chromosome 6
strand 1
last intron/exon boundary 994
theoretical NMD boundary in CDS 849
length of CDS 870
coding sequence (CDS) position 578
cDNA position
(for ins/del: last normal base / first normal base)		 672
gDNA position
(for ins/del: last normal base / first normal base)		 12257
chromosomal position
(for ins/del: last normal base / first normal base)		 31379817
original gDNA sequence snippet CTTCTATCCCCGGAATATCATACTGACCTGGCGTCAGGATG
altered gDNA sequence snippet CTTCTATCCCCGGAATATCACACTGACCTGGCGTCAGGATG
original cDNA sequence snippet CTTCTATCCCCGGAATATCATACTGACCTGGCGTCAGGATG
altered cDNA sequence snippet CTTCTATCCCCGGAATATCACACTGACCTGGCGTCAGGATG
wildtype AA sequence MGLGPVFLLL AGIFPFAPPG AAAEPHSLRY NLTVLSWDGS VQSGFLAEVH LDGQPFLRYD
RQKCRAKPQG QWAEDVLGNK TWDRETRDLT GNGKDLRMTL AHIKDQKEVP QSSRAQTLAM
NVRNFLKEDA MKTKTHYHAM HADCLQELRR YLESGVVLRR TVPPMVNVTR SEASEGNITV
TCRASSFYPR NIILTWRQDG VSLSHDTQQW GDVLPDGNGT YQTWVATRIC RGEEQRFTCY
MEHSGNHSTH PVPSGKVLVL QSHWQTFHVS AVAAGCCYFC YYYFLCPLL*
mutated AA sequence MGLGPVFLLL AGIFPFAPPG AAAEPHSLRY NLTVLSWDGS VQSGFLAEVH LDGQPFLRYD
RQKCRAKPQG QWAEDVLGNK TWDRETRDLT GNGKDLRMTL AHIKDQKEVP QSSRAQTLAM
NVRNFLKEDA MKTKTHYHAM HADCLQELRR YLESGVVLRR TVPPMVNVTR SEASEGNITV
TCRASSFYPR NITLTWRQDG VSLSHDTQQW GDVLPDGNGT YQTWVATRIC RGEEQRFTCY
MEHSGNHSTH PVPSGKVLVL QSHWQTFHVS AVAAGCCYFC YYYFLCPLL*
speed 0.73 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