Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999995622769094 (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
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analysed issue analysis result
name of alteration no title
alteration (phys. location) chr1:28209366A>GN/A show variant in all transcripts   IGV
HGNC symbol THEMIS2
Ensembl transcript ID ENST00000373921
Genbank transcript ID NM_001105556
UniProt peptide Q5TEJ8
alteration type single base exchange
alteration region CDS
DNA changes c.1531A>G
cDNA.1535A>G
g.10312A>G
AA changes K511E Score: 56 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 511
frameshift no
known variant Reference ID: rs3766400
databasehomozygous (G/G)heterozygousallele carriers
1000G6629321594
ExAC21689-1061111078
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
PolII, Polymerase, RNA Polymerase II
phyloP / phastCons
PhyloPPhastCons
(flanking)1.4690.925
0.7210.666
(flanking)0.3910.286
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 189
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      511IPPRWLDLTVVKAKGQPDLPEGSL
mutated  all conserved    511IPPRWLDLTVVEAKGQPDLPEGS
Ptroglodytes  no homologue    
Mmulatta  all conserved  ENSMMUG00000018170  511IPPRWLDLTVVEAKGQPDWPEGS
Fcatus  no alignment  ENSFCAG00000003404  n/a
Mmusculus  all conserved  ENSMUSG00000037731  512IPPRWLDLTVVEAEGQPAQVARP
Ggallus  not conserved  ENSGALG00000000731  440IPPQWLDLSLVLTGEPVGTQSPS
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
239514REGIONCABIT 2.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1932 / 1932
position (AA) of stopcodon in wt / mu AA sequence 644 / 644
position of stopcodon in wt / mu cDNA 1936 / 1936
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 5 / 5
chromosome 1
strand 1
last intron/exon boundary 1881
theoretical NMD boundary in CDS 1826
length of CDS 1932
coding sequence (CDS) position 1531
cDNA position
(for ins/del: last normal base / first normal base)		 1535
gDNA position
(for ins/del: last normal base / first normal base)		 10312
chromosomal position
(for ins/del: last normal base / first normal base)		 28209366
original gDNA sequence snippet GGCTGGACCTGACTGTTGTGAAGGCCAAGGGGCAGCCAGAC
altered gDNA sequence snippet GGCTGGACCTGACTGTTGTGGAGGCCAAGGGGCAGCCAGAC
original cDNA sequence snippet GGCTGGACCTGACTGTTGTGAAGGCCAAGGGGCAGCCAGAC
altered cDNA sequence snippet GGCTGGACCTGACTGTTGTGGAGGCCAAGGGGCAGCCAGAC
wildtype AA sequence MEPVPLQDFV RALDPASLPR VLRVCSGVYF EGSIYEISGN ECCLSTGDLI KVTQVRLQKV
VCENPKTSQT MELAPNFQGY FTPLNTPQSY ETLEELVSAT TQSSKQLPTC FMSTHRIVTE
GRVVTEDQLL MLEAVVMHLG IRSARCVLGM EGQQVILHLP LSQKGPFWTW EPSAPRTLLQ
VLQDPALKDL VLTCPTLPWH SLILRPQYEI QAIMHMRRTI VKIPSTLEVD VEDVTASSRH
VHFIKPLLLS EVLAWEGPFP LSMEILEVPE GRPIFLSPWV GSLQKGQRLC VYGLASPPWR
VLASSKGRKV PRHFLVSGGY QGKLRRRPRE FPTAYDLLGA FQPGRPLRVV ATKDCEGERE
ENPEFTSLAV GDRLEVLGPG QAHGAQGSDV DVLVCQRLSD QAGEDEEEEC KEEAESPERV
LLPFHFPGSF VEEMSDSRRY SLADLTAQFS LPCEVKVVAK DTSHPTDPLT SFLGLRLEEK
ITEPFLVVSL DSEPGMCFEI PPRWLDLTVV KAKGQPDLPE GSLPIATVEE LTDTFYYRLR
KLPACEIQAP PPRPPKNQGL SKQRRHSSEG GVKSSQVLGL QQHARLPKPK AKTLPEFIKD
GSSTYSKIPA HRKGHRPAKP QRQDLDDDEH DYEEILEQFQ KTI*
mutated AA sequence MEPVPLQDFV RALDPASLPR VLRVCSGVYF EGSIYEISGN ECCLSTGDLI KVTQVRLQKV
VCENPKTSQT MELAPNFQGY FTPLNTPQSY ETLEELVSAT TQSSKQLPTC FMSTHRIVTE
GRVVTEDQLL MLEAVVMHLG IRSARCVLGM EGQQVILHLP LSQKGPFWTW EPSAPRTLLQ
VLQDPALKDL VLTCPTLPWH SLILRPQYEI QAIMHMRRTI VKIPSTLEVD VEDVTASSRH
VHFIKPLLLS EVLAWEGPFP LSMEILEVPE GRPIFLSPWV GSLQKGQRLC VYGLASPPWR
VLASSKGRKV PRHFLVSGGY QGKLRRRPRE FPTAYDLLGA FQPGRPLRVV ATKDCEGERE
ENPEFTSLAV GDRLEVLGPG QAHGAQGSDV DVLVCQRLSD QAGEDEEEEC KEEAESPERV
LLPFHFPGSF VEEMSDSRRY SLADLTAQFS LPCEVKVVAK DTSHPTDPLT SFLGLRLEEK
ITEPFLVVSL DSEPGMCFEI PPRWLDLTVV EAKGQPDLPE GSLPIATVEE LTDTFYYRLR
KLPACEIQAP PPRPPKNQGL SKQRRHSSEG GVKSSQVLGL QQHARLPKPK AKTLPEFIKD
GSSTYSKIPA HRKGHRPAKP QRQDLDDDEH DYEEILEQFQ KTI*
speed 1.21 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