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 ENST00000543010
Genbank transcript ID NM_001174081
UniProt peptide Q9NX02
alteration type single base exchange
alteration region CDS
DNA changes c.3155C>A
cDNA.3298C>A
g.47735C>A
AA changes A1052E Score: 107 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1052
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      1052LIIDTEKHHPWAERPSSHDFMI*
mutated  not conserved    1052LIIDTEKHHPWEERPSSHDFMI
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 3189 / 3189
position (AA) of stopcodon in wt / mu AA sequence 1063 / 1063
position of stopcodon in wt / mu cDNA 3332 / 3332
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 144 / 144
chromosome 19
strand 1
last intron/exon boundary 3194
theoretical NMD boundary in CDS 3000
length of CDS 3189
coding sequence (CDS) position 3155
cDNA position
(for ins/del: last normal base / first normal base)		 3298
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 AQAFTETKGN VICLGKEVFK GKKPDKDNRC RYILKTKFRE MWKSWPGDSK
EVQVMAERYK MLIPFSNPRV LPGPFSYTVV LYGPAGLGKT TLAQKLMLDW AEDNLIHKFK
YAFYLSCREL SRLGPCSFAE LVFRDWPELQ DDIPHILAQA RKILFVIDGF DELGAAPGAL
IEDICGDWEK KKPVPVLLGS LLNRVMLPKA ALLVTTRPRA LRDLRILAEE PIYIRVEGFL
EEDRRAYFLR HFGDEDQAMR AFELMRSNAA LFQLGSAPAV CWIVCTTLKL QMEKGEDPVP
TCLTRTGLFL RFLCSRFPQG AQLRGALRTL SLLAAQGLWA QTSVLHREDL ERLGVQESDL
RLFLDGDILR QDRVSKGCYS FIHLSFQQFL TALFYTLEKE EEEDRDGHTW DIGDVQKLLS
GVERLRNPDL IQAGYYSFGL ANEKRAKELE ATFGCRMSPD IKQELLRCDI SCKGGHSTVT
DLQELLGCLY ESQEEELVKE VMAQFKEISL HLNAVDVVPS SFCVKHCRNL QKMSLQVIKE
NLPENVTASE SDAEVERSQD DQHMLPFWTD LCSIFGSNKD LMGLAINDSF LSASLVRILC
EQIASDTCHL QRVVFKNISP ADAHRNLCLA LRGHKTVTYL TLQGNDQDDM FPALCEVLRH
PECNLRYLGL VSCSATTQQW ADLSLALEVN QSLTCVNLSD NELLDEGAKL LYTTLRHPKC
FLQRLSLENC HLTEANCKDL AAVLVVSREL THLCLAKNPI GNTGVKFLCE GLRYPECKLQ
TLVLWNCDIT SDGCCDLTKL LQEKSSLLCL DLGLNHIGVK GMKFLCEALR KPLCNLRCLW
LWGCSIPPFS CEDLCSALSC NQSLVTLDLG QNPLGSSGVK MLFETLTCSS GTLRTLRLKI
DDFNDELNKL LEEIEEKNPQ LIIDTEKHHP WAERPSSHDF MI*
mutated AA sequence MVSSAQMGFN LQALLEQLSQ DELSKFKYLI TTFSLAHELQ KIPHKEVDKA DGKQLVEILT
THCDSYWVEM ASLQVFEKMH RMDLSERAKD EVREAALKSF NKRKPLSLGI TRKERPPLDV
DEMLERFKTE AQAFTETKGN VICLGKEVFK GKKPDKDNRC RYILKTKFRE MWKSWPGDSK
EVQVMAERYK MLIPFSNPRV LPGPFSYTVV LYGPAGLGKT TLAQKLMLDW AEDNLIHKFK
YAFYLSCREL SRLGPCSFAE LVFRDWPELQ DDIPHILAQA RKILFVIDGF DELGAAPGAL
IEDICGDWEK KKPVPVLLGS LLNRVMLPKA ALLVTTRPRA LRDLRILAEE PIYIRVEGFL
EEDRRAYFLR HFGDEDQAMR AFELMRSNAA LFQLGSAPAV CWIVCTTLKL QMEKGEDPVP
TCLTRTGLFL RFLCSRFPQG AQLRGALRTL SLLAAQGLWA QTSVLHREDL ERLGVQESDL
RLFLDGDILR QDRVSKGCYS FIHLSFQQFL TALFYTLEKE EEEDRDGHTW DIGDVQKLLS
GVERLRNPDL IQAGYYSFGL ANEKRAKELE ATFGCRMSPD IKQELLRCDI SCKGGHSTVT
DLQELLGCLY ESQEEELVKE VMAQFKEISL HLNAVDVVPS SFCVKHCRNL QKMSLQVIKE
NLPENVTASE SDAEVERSQD DQHMLPFWTD LCSIFGSNKD LMGLAINDSF LSASLVRILC
EQIASDTCHL QRVVFKNISP ADAHRNLCLA LRGHKTVTYL TLQGNDQDDM FPALCEVLRH
PECNLRYLGL VSCSATTQQW ADLSLALEVN QSLTCVNLSD NELLDEGAKL LYTTLRHPKC
FLQRLSLENC HLTEANCKDL AAVLVVSREL THLCLAKNPI GNTGVKFLCE GLRYPECKLQ
TLVLWNCDIT SDGCCDLTKL LQEKSSLLCL DLGLNHIGVK GMKFLCEALR KPLCNLRCLW
LWGCSIPPFS CEDLCSALSC NQSLVTLDLG QNPLGSSGVK MLFETLTCSS GTLRTLRLKI
DDFNDELNKL LEEIEEKNPQ LIIDTEKHHP WEERPSSHDF MI*
speed 0.16 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