Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999982260582115 (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
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr11:119052826C>AN/A show variant in all transcripts   IGV
HGNC symbol NLRX1
Ensembl transcript ID ENST00000409109
Genbank transcript ID N/A
UniProt peptide Q86UT6
alteration type single base exchange
alteration region CDS
DNA changes c.2378C>A
cDNA.2965C>A
g.15550C>A
AA changes A793E Score: 107 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 793
frameshift no
known variant Reference ID: rs4245191
databasehomozygous (A/A)heterozygousallele carriers
1000G12639212184
ExAC21342-991711425
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)3.5820.214
1.0430.163
(flanking)-2.9960
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 increased15550wt: 0.9325 / mu: 0.9672 (marginal change - not scored)wt: GACGGCGGCAGGTGT
mu: GACGGAGGCAGGTGT		 CGGC|ggca
Donor marginally increased15542wt: 0.8048 / mu: 0.8109 (marginal change - not scored)wt: AACCCGCTGACGGCG
mu: AACCCGCTGACGGAG		 CCCG|ctga
Donor gained155450.42mu: CCGCTGACGGAGGCA GCTG|acgg
distance from splice site 24
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      793TTLRLSNNPLTAAGVAVLMEGLAG
mutated  not conserved    793TTLRLSNNPLTEAGVAVLMEGLA
Ptroglodytes  all identical  ENSPTRG00000004374  793TTLRLSNNPLTAAGVAVLMEGLA
Mmulatta  all identical  ENSMMUG00000012189  790TTLRLSNNPLMAAGVALLMEGLA
Fcatus  not conserved  ENSFCAG00000001167  725THLSLLHTGLGDEGLELLATQLD
Mmusculus  all identical  ENSMUSG00000032109  793TTLRLSNNPLTAAGVGLLMDGLA
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000073724  814KSLQLCDNYLSDSGISHLLEALS
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
556974REGIONRequired for the repression of MAVS- induced interferon signaling.lost
778801REPEATLRR 4.lost
792804HELIXlost
811813STRANDmight get lost (downstream of altered splice site)
811834REPEATLRR 5.might get lost (downstream of altered splice site)
820830HELIXmight get lost (downstream of altered splice site)
831833HELIXmight get lost (downstream of altered splice site)
835857REPEATLRR 6.might get lost (downstream of altered splice site)
839841STRANDmight get lost (downstream of altered splice site)
849861HELIXmight get lost (downstream of altered splice site)
862885REPEATLRR 7.might get lost (downstream of altered splice site)
867869STRANDmight get lost (downstream of altered splice site)
877885HELIXmight get lost (downstream of altered splice site)
895897STRANDmight get lost (downstream of altered splice site)
907920HELIXmight get lost (downstream of altered splice site)
926945HELIXmight get lost (downstream of altered splice site)
950969HELIXmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2928 / 2928
position (AA) of stopcodon in wt / mu AA sequence 976 / 976
position of stopcodon in wt / mu cDNA 3515 / 3515
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 588 / 588
chromosome 11
strand 1
last intron/exon boundary 3194
theoretical NMD boundary in CDS 2556
length of CDS 2928
coding sequence (CDS) position 2378
cDNA position
(for ins/del: last normal base / first normal base)		 2965
gDNA position
(for ins/del: last normal base / first normal base)		 15550
chromosomal position
(for ins/del: last normal base / first normal base)		 119052826
original gDNA sequence snippet GTCCAACAACCCGCTGACGGCGGCAGGTGTTGCCGTGCTAA
altered gDNA sequence snippet GTCCAACAACCCGCTGACGGAGGCAGGTGTTGCCGTGCTAA
original cDNA sequence snippet GTCCAACAACCCGCTGACGGCGGCAGGTGTTGCCGTGCTAA
altered cDNA sequence snippet GTCCAACAACCCGCTGACGGAGGCAGGTGTTGCCGTGCTAA
wildtype AA sequence MRWGHHLPRA SWGSGFRRAL QRPDDRIPFL IHWSWPLQGE RPFGPPRAFI RHHGSSVDSA
PPPGRHGRLF PSASATEAIQ RHRRNLAEWF SRLPREERQF GPTFALDTVH VDPVIRESTP
DELLRPPAEL ALEHQPPQAG LPPLALSQLF NPDACGRRVQ TVVLYGTVGT GKSTLVRKMV
LDWCYGRLPA FELLIPFSCE DLSSLGPAPA SLCQLVAQRY TPLKEVLPLM AAAGSHLLFV
LHGLEHLNLD FRLAGTGLCS DPEEPQEPAA IIVNLLRKYM LPQASILVTT RPSAIGRIPS
KYVGRYGEIC GFSDTNLQKL YFQLRLNQPY CGYAVGGSGV SATPAQRDHL VQMLSRNLEG
HHQIAAACFL PSYCWLVCAT LHFLHAPTPA GQTLTSIYTS FLRLNFSGET LDSTDPSNLS
LMAYAARTMG KLAYEGVSSR KTYFSEEDVC GCLEAGIRTE EEFQLLHIFR RDALRFFLAP
CVEPGRAGTF VFTVPAMQEY LAALYIVLGL RKTTLQKVGK EVAELVGRVG EDVSLVLGIM
AKLLPLRALP LLFNLIKVVP RVFGRMVGKS REAVAQAMVL EMFREEDYYN DDVLDQMGAS
ILGVEGPRRH PDEPPEDEVF ELFPMFMGGL LSAHNRAVLA QLGCPIKNLD ALENAQAIKK
KLGKLGRQVL PPSELLDHLF FHYEFQNQRF SAEVLSSLRQ LNLAGVRMTP VKCTVVAAVL
GSGRHALDEV NLASCQLDPA GLRTLLPVFL RARKLGLQLN SLGPEACKDL RDLLLHDQCQ
ITTLRLSNNP LTAAGVAVLM EGLAGNTSVT HLSLLHTGLG DEGLELLAAQ LDRNRQLQEL
NVAYNGAGDT AALALARAAR EHPSLELLHL YFNELSSEGR QVLRDLGGAA EGGARVVVSL
TEGTAVSEYW SVILSEVQRN LNSWDRARVQ RHLELLLRDL EDSRGATLNP WRKAQLLRVE
GEVRALLEQL GSSGS*
mutated AA sequence MRWGHHLPRA SWGSGFRRAL QRPDDRIPFL IHWSWPLQGE RPFGPPRAFI RHHGSSVDSA
PPPGRHGRLF PSASATEAIQ RHRRNLAEWF SRLPREERQF GPTFALDTVH VDPVIRESTP
DELLRPPAEL ALEHQPPQAG LPPLALSQLF NPDACGRRVQ TVVLYGTVGT GKSTLVRKMV
LDWCYGRLPA FELLIPFSCE DLSSLGPAPA SLCQLVAQRY TPLKEVLPLM AAAGSHLLFV
LHGLEHLNLD FRLAGTGLCS DPEEPQEPAA IIVNLLRKYM LPQASILVTT RPSAIGRIPS
KYVGRYGEIC GFSDTNLQKL YFQLRLNQPY CGYAVGGSGV SATPAQRDHL VQMLSRNLEG
HHQIAAACFL PSYCWLVCAT LHFLHAPTPA GQTLTSIYTS FLRLNFSGET LDSTDPSNLS
LMAYAARTMG KLAYEGVSSR KTYFSEEDVC GCLEAGIRTE EEFQLLHIFR RDALRFFLAP
CVEPGRAGTF VFTVPAMQEY LAALYIVLGL RKTTLQKVGK EVAELVGRVG EDVSLVLGIM
AKLLPLRALP LLFNLIKVVP RVFGRMVGKS REAVAQAMVL EMFREEDYYN DDVLDQMGAS
ILGVEGPRRH PDEPPEDEVF ELFPMFMGGL LSAHNRAVLA QLGCPIKNLD ALENAQAIKK
KLGKLGRQVL PPSELLDHLF FHYEFQNQRF SAEVLSSLRQ LNLAGVRMTP VKCTVVAAVL
GSGRHALDEV NLASCQLDPA GLRTLLPVFL RARKLGLQLN SLGPEACKDL RDLLLHDQCQ
ITTLRLSNNP LTEAGVAVLM EGLAGNTSVT HLSLLHTGLG DEGLELLAAQ LDRNRQLQEL
NVAYNGAGDT AALALARAAR EHPSLELLHL YFNELSSEGR QVLRDLGGAA EGGARVVVSL
TEGTAVSEYW SVILSEVQRN LNSWDRARVQ RHLELLLRDL EDSRGATLNP WRKAQLLRVE
GEVRALLEQL GSSGS*
speed 0.43 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