Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999993 (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) chr19:55512232C>AN/A show variant in all transcripts   IGV
HGNC symbol NLRP2
Ensembl transcript ID ENST00000538819
Genbank transcript ID N/A
UniProt peptide Q9NX02
alteration type single base exchange
alteration region CDS
DNA changes c.3083C>A
cDNA.3169C>A
g.47735C>A
AA changes A1028E Score: 107 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1028
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 increased47735wt: 0.60 / mu: 0.92wt: CTGGGCAGAAAGGCC
mu: CTGGGAAGAAAGGCC		 GGGC|agaa
Donor increased47731wt: 0.26 / mu: 1.00wt: ATCCCTGGGCAGAAA
mu: ATCCCTGGGAAGAAA		 CCCT|gggc
Donor marginally increased47736wt: 0.9590 / mu: 0.9725 (marginal change - not scored)wt: TGGGCAGAAAGGCCT
mu: TGGGAAGAAAGGCCT		 GGCA|gaaa
distance from splice site 105
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1028LIIDTEKHHPWAERPSSHDFMI*
mutated  not conserved    1028TEKHHPWEERPSSHDFMI
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
start (aa)end (aa)featuredetails 
10101033REPEATLRR 8.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3117 / 3117
position (AA) of stopcodon in wt / mu AA sequence 1039 / 1039
position of stopcodon in wt / mu cDNA 3203 / 3203
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 87 / 87
chromosome 19
strand 1
last intron/exon boundary 3065
theoretical NMD boundary in CDS 2928
length of CDS 3117
coding sequence (CDS) position 3083
cDNA position
(for ins/del: last normal base / first normal base)		 3169
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 NKRKPLSLAF TETKGNVICL
GKEVFKGKKP DKDNRCRYIL KTKFREMWKS WPGDSKEVQV MAERYKMLIP FSNPRVLPGP
FSYTVVLYGP AGLGKTTLAQ KLMLDWAEDN LIHKFKYAFY LSCRELSRLG PCSFAELVFR
DWPELQDDIP HILAQARKIL FVIDGFDELG AAPGALIEDI CGDWEKKKPV PVLLGSLLNR
VMLPKAALLV TTRPRALRDL RILAEEPIYI RVEGFLEEDR RAYFLRHFGD EDQAMRAFEL
MRSNAALFQL GSAPAVCWIV CTTLKLQMEK GEDPVPTCLT RTGLFLRFLC SRFPQGAQLR
GALRTLSLLA AQGLWAQTSV LHREDLERLG VQESDLRLFL DGDILRQDRV SKGCYSFIHL
SFQQFLTALF YTLEKEEEED RDGHTWDIGD VQKLLSGVER LRNPDLIQAG YYSFGLANEK
RAKELEATFG CRMSPDIKQE LLRCDISCKG GHSTVTDLQE LLGCLYESQE EELVKEVMAQ
FKEISLHLNA VDVVPSSFCV KHCRNLQKMS LQVIKENLPE NVTASESDAE VERSQDDQHM
LPFWTDLCSI FGSNKDLMGL AINDSFLSAS LVRILCEQIA SDTCHLQRVV FKNISPADAH
RNLCLALRGH KTVTYLTLQG NDQDDMFPAL CEVLRHPECN LRYLGLVSCS ATTQQWADLS
LALEVNQSLT CVNLSDNELL DEGAKLLYTT LRHPKCFLQR LSLENCHLTE ANCKDLAAVL
VVSRELTHLC LAKNPIGNTG VKFLCEGLRY PECKLQTLVL WNCDITSDGC CDLTKLLQEK
SSLLCLDLGL NHIGVKGMKF LCEALRKPLC NLRCLWLWGC SIPPFSCEDL CSALSCNQSL
VTLDLGQNPL GSSGVKMLFE TLTCSSGTLR TLRLKIDDFN DELNKLLEEI EEKNPQLIID
TEKHHPWAER PSSHDFMI*
mutated AA sequence MVSSAQMGFN LQALLEQLSQ DELSKFKYLI TTFSLAHELQ KIPHKEVDKA DGKQLVEILT
THCDSYWVEM ASLQVFEKMH RMDLSERAKD EVREAALKSF NKRKPLSLAF TETKGNVICL
GKEVFKGKKP DKDNRCRYIL KTKFREMWKS WPGDSKEVQV MAERYKMLIP FSNPRVLPGP
FSYTVVLYGP AGLGKTTLAQ KLMLDWAEDN LIHKFKYAFY LSCRELSRLG PCSFAELVFR
DWPELQDDIP HILAQARKIL FVIDGFDELG AAPGALIEDI CGDWEKKKPV PVLLGSLLNR
VMLPKAALLV TTRPRALRDL RILAEEPIYI RVEGFLEEDR RAYFLRHFGD EDQAMRAFEL
MRSNAALFQL GSAPAVCWIV CTTLKLQMEK GEDPVPTCLT RTGLFLRFLC SRFPQGAQLR
GALRTLSLLA AQGLWAQTSV LHREDLERLG VQESDLRLFL DGDILRQDRV SKGCYSFIHL
SFQQFLTALF YTLEKEEEED RDGHTWDIGD VQKLLSGVER LRNPDLIQAG YYSFGLANEK
RAKELEATFG CRMSPDIKQE LLRCDISCKG GHSTVTDLQE LLGCLYESQE EELVKEVMAQ
FKEISLHLNA VDVVPSSFCV KHCRNLQKMS LQVIKENLPE NVTASESDAE VERSQDDQHM
LPFWTDLCSI FGSNKDLMGL AINDSFLSAS LVRILCEQIA SDTCHLQRVV FKNISPADAH
RNLCLALRGH KTVTYLTLQG NDQDDMFPAL CEVLRHPECN LRYLGLVSCS ATTQQWADLS
LALEVNQSLT CVNLSDNELL DEGAKLLYTT LRHPKCFLQR LSLENCHLTE ANCKDLAAVL
VVSRELTHLC LAKNPIGNTG VKFLCEGLRY PECKLQTLVL WNCDITSDGC CDLTKLLQEK
SSLLCLDLGL NHIGVKGMKF LCEALRKPLC NLRCLWLWGC SIPPFSCEDL CSALSCNQSL
VTLDLGQNPL GSSGVKMLFE TLTCSSGTLR TLRLKIDDFN DELNKLLEEI EEKNPQLIID
TEKHHPWEER PSSHDFMI*
speed 0.81 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