Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999995 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr19:55512232C>AN/A show variant in all transcripts   IGV
HGNC symbol NLRP2
Ensembl transcript ID ENST00000263437
Genbank transcript ID N/A
UniProt peptide Q9NX02
alteration type single base exchange
alteration region CDS
DNA changes c.3146C>A
cDNA.3225C>A
g.47735C>A
AA changes A1049E Score: 107 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1049
frameshift no
known variant Reference ID: rs1043673
databasehomozygous (A/A)heterozygousallele carriers
1000G30410441348
ExAC83641603924403
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.5430
-0.4350
(flanking)-1.720
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 increased47736wt: 0.9590 / mu: 0.9725 (marginal change - not scored)wt: TGGGCAGAAAGGCCT
mu: TGGGAAGAAAGGCCT		 GGCA|gaaa
Donor increased47735wt: 0.60 / mu: 0.92wt: CTGGGCAGAAAGGCC
mu: CTGGGAAGAAAGGCC		 GGGC|agaa
Donor increased47731wt: 0.26 / mu: 1.00wt: ATCCCTGGGCAGAAA
mu: ATCCCTGGGAAGAAA		 CCCT|gggc
distance from splice site 105
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1049LIIDTEKHHPWAERPSSHDFMI*
mutated  not conserved    1049LIIDTEKHHPWEERPSSHDFMI
Ptroglodytes  not conserved  ENSPTRG00000011480  1052LIIDTEKHHPWEERPSSHDFMI
Mmulatta  not conserved  ENSMMUG00000003115  1051LIIDTEKHDPWKKRPSSHDFMI
Fcatus  no homologue    
Mmusculus  no alignment  ENSMUSG00000035177  n/a
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no alignment  ENSDARG00000088955  n/a
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3180 / 3180
position (AA) of stopcodon in wt / mu AA sequence 1060 / 1060
position of stopcodon in wt / mu cDNA 3259 / 3259
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 80 / 80
chromosome 19
strand 1
last intron/exon boundary 3121
theoretical NMD boundary in CDS 2991
length of CDS 3180
coding sequence (CDS) position 3146
cDNA position
(for ins/del: last normal base / first normal base)		 3225
gDNA position
(for ins/del: last normal base / first normal base)		 47735
chromosomal position
(for ins/del: last normal base / first normal base)		 55512232
original gDNA sequence snippet TGAGAAACATCATCCCTGGGCAGAAAGGCCTTCTTCTCATG
altered gDNA sequence snippet TGAGAAACATCATCCCTGGGAAGAAAGGCCTTCTTCTCATG
original cDNA sequence snippet TGAGAAACATCATCCCTGGGCAGAAAGGCCTTCTTCTCATG
altered cDNA sequence snippet TGAGAAACATCATCCCTGGGAAGAAAGGCCTTCTTCTCATG
wildtype AA sequence MVSSAQMGFN LQALLEQLSQ DELSKFKYLI TTFSLAHELQ KIPHKEVDKA DGKQLVEILT
THCDSYWVEM ASLQVFEKMH RMDLSERAKD EVREAALKSF NKRKPLSLGI TRKERPPLDV
DEMLERFKTE AQETKGNVIC LGKEVFKGKK PDKDNRCRYI LKTKFREMWK SWPGDSKEVQ
VMAERYKMLI PFSNPRVLPG PFSYTVVLYG PAGLGKTTLA QKLMLDWAED NLIHKFKYAF
YLSCRELSRL GPCSFAELVF RDWPELQDDI PHILAQARKI LFVIDGFDEL GAAPGALIED
ICGDWEKKKP VPVLLGSLLN RVMLPKAALL VTTRPRALRD LRILAEEPIY IRVEGFLEED
RRAYFLRHFG DEDQAMRAFE LMRSNAALFQ LGSAPAVCWI VCTTLKLQME KGEDPVPTCL
TRTGLFLRFL CSRFPQGAQL RGALRTLSLL AAQGLWAQTS VLHREDLERL GVQESDLRLF
LDGDILRQDR VSKGCYSFIH LSFQQFLTAL FYTLEKEEEE DRDGHTWDIG DVQKLLSGVE
RLRNPDLIQA GYYSFGLANE KRAKELEATF GCRMSPDIKQ ELLRCDISCK GGHSTVTDLQ
ELLGCLYESQ EEELVKEVMA QFKEISLHLN AVDVVPSSFC VKHCRNLQKM SLQVIKENLP
ENVTASESDA EVERSQDDQH MLPFWTDLCS IFGSNKDLMG LAINDSFLSA SLVRILCEQI
ASDTCHLQRV VFKNISPADA HRNLCLALRG HKTVTYLTLQ GNDQDDMFPA LCEVLRHPEC
NLRYLGLVSC SATTQQWADL SLALEVNQSL TCVNLSDNEL LDEGAKLLYT TLRHPKCFLQ
RLSLENCHLT EANCKDLAAV LVVSRELTHL CLAKNPIGNT GVKFLCEGLR YPECKLQTLV
LWNCDITSDG CCDLTKLLQE KSSLLCLDLG LNHIGVKGMK FLCEALRKPL CNLRCLWLWG
CSIPPFSCED LCSALSCNQS LVTLDLGQNP LGSSGVKMLF ETLTCSSGTL RTLRLKIDDF
NDELNKLLEE IEEKNPQLII DTEKHHPWAE RPSSHDFMI*
mutated AA sequence MVSSAQMGFN LQALLEQLSQ DELSKFKYLI TTFSLAHELQ KIPHKEVDKA DGKQLVEILT
THCDSYWVEM ASLQVFEKMH RMDLSERAKD EVREAALKSF NKRKPLSLGI TRKERPPLDV
DEMLERFKTE AQETKGNVIC LGKEVFKGKK PDKDNRCRYI LKTKFREMWK SWPGDSKEVQ
VMAERYKMLI PFSNPRVLPG PFSYTVVLYG PAGLGKTTLA QKLMLDWAED NLIHKFKYAF
YLSCRELSRL GPCSFAELVF RDWPELQDDI PHILAQARKI LFVIDGFDEL GAAPGALIED
ICGDWEKKKP VPVLLGSLLN RVMLPKAALL VTTRPRALRD LRILAEEPIY IRVEGFLEED
RRAYFLRHFG DEDQAMRAFE LMRSNAALFQ LGSAPAVCWI VCTTLKLQME KGEDPVPTCL
TRTGLFLRFL CSRFPQGAQL RGALRTLSLL AAQGLWAQTS VLHREDLERL GVQESDLRLF
LDGDILRQDR VSKGCYSFIH LSFQQFLTAL FYTLEKEEEE DRDGHTWDIG DVQKLLSGVE
RLRNPDLIQA GYYSFGLANE KRAKELEATF GCRMSPDIKQ ELLRCDISCK GGHSTVTDLQ
ELLGCLYESQ EEELVKEVMA QFKEISLHLN AVDVVPSSFC VKHCRNLQKM SLQVIKENLP
ENVTASESDA EVERSQDDQH MLPFWTDLCS IFGSNKDLMG LAINDSFLSA SLVRILCEQI
ASDTCHLQRV VFKNISPADA HRNLCLALRG HKTVTYLTLQ GNDQDDMFPA LCEVLRHPEC
NLRYLGLVSC SATTQQWADL SLALEVNQSL TCVNLSDNEL LDEGAKLLYT TLRHPKCFLQ
RLSLENCHLT EANCKDLAAV LVVSRELTHL CLAKNPIGNT GVKFLCEGLR YPECKLQTLV
LWNCDITSDG CCDLTKLLQE KSSLLCLDLG LNHIGVKGMK FLCEALRKPL CNLRCLWLWG
CSIPPFSCED LCSALSCNQS LVTLDLGQNP LGSSGVKMLF ETLTCSSGTL RTLRLKIDDF
NDELNKLLEE IEEKNPQLII DTEKHHPWEE RPSSHDFMI*
speed 0.17 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