Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999965 (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 ENST00000364810
Genbank transcript ID NM_001177519
UniProt peptide Q29983
alteration type single base exchange
alteration region CDS
DNA changes c.707T>C
cDNA.1110T>C
g.12257T>C
AA changes I236T Score: 89 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 236
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      236CRASSFYPRNIILTWRQDGVSLSH
mutated  not conserved    236CRASSFYPRNITLTWR
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  229CRVYGFYPRDVEVKWIKNGRDEI
protein features
start (aa)end (aa)featuredetails 
24307TOPO_DOMExtracellular (Potential).lost
207296DOMAINIg-like C1-type.lost
217233STRANDmight get lost (downstream of altered splice site)
236241STRANDlost
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 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 707
cDNA position
(for ins/del: last normal base / first normal base)		 1110
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 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 LRRYLESGVV LRRTVPPMVN VTRSEASEGN ITVTCRASSF YPRNITLTWR
QDGVSLSHDT QQWGDVLPDG NGTYQTWVAT RICRGEEQRF TCYMEHSGNH STHPVPSGKV
LVLQSHWQTF HVSAVAAGCC YFCYYYFLCP LL*
speed 1.01 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