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 ENST00000537859
Genbank transcript ID NM_001174082
UniProt peptide Q9NX02
alteration type single base exchange
alteration region CDS
DNA changes c.3089C>A
cDNA.3231C>A
g.47735C>A
AA changes A1030E Score: 107 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1030
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      1030LIIDTEKHHPWAERPSSHDFMI*
mutated  not conserved    1030IDTEKHHPWEERPSSHDFMI
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 3123 / 3123
position (AA) of stopcodon in wt / mu AA sequence 1041 / 1041
position of stopcodon in wt / mu cDNA 3265 / 3265
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 143 / 143
chromosome 19
strand 1
last intron/exon boundary 3127
theoretical NMD boundary in CDS 2934
length of CDS 3123
coding sequence (CDS) position 3089
cDNA position
(for ins/del: last normal base / first normal base)		 3231
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 AQDKDNRCRY ILKTKFREMW KSWPGDSKEV QVMAERYKML IPFSNPRVLP
GPFSYTVVLY GPAGLGKTTL AQKLMLDWAE DNLIHKFKYA FYLSCRELSR LGPCSFAELV
FRDWPELQDD IPHILAQARK ILFVIDGFDE LGAAPGALIE DICGDWEKKK PVPVLLGSLL
NRVMLPKAAL LVTTRPRALR DLRILAEEPI YIRVEGFLEE DRRAYFLRHF GDEDQAMRAF
ELMRSNAALF QLGSAPAVCW IVCTTLKLQM EKGEDPVPTC LTRTGLFLRF LCSRFPQGAQ
LRGALRTLSL LAAQGLWAQT SVLHREDLER LGVQESDLRL FLDGDILRQD RVSKGCYSFI
HLSFQQFLTA LFYTLEKEEE EDRDGHTWDI GDVQKLLSGV ERLRNPDLIQ AGYYSFGLAN
EKRAKELEAT FGCRMSPDIK QELLRCDISC KGGHSTVTDL QELLGCLYES QEEELVKEVM
AQFKEISLHL NAVDVVPSSF CVKHCRNLQK MSLQVIKENL PENVTASESD AEVERSQDDQ
HMLPFWTDLC SIFGSNKDLM GLAINDSFLS ASLVRILCEQ IASDTCHLQR VVFKNISPAD
AHRNLCLALR GHKTVTYLTL QGNDQDDMFP ALCEVLRHPE CNLRYLGLVS CSATTQQWAD
LSLALEVNQS LTCVNLSDNE LLDEGAKLLY TTLRHPKCFL QRLSLENCHL TEANCKDLAA
VLVVSRELTH LCLAKNPIGN TGVKFLCEGL RYPECKLQTL VLWNCDITSD GCCDLTKLLQ
EKSSLLCLDL GLNHIGVKGM KFLCEALRKP LCNLRCLWLW GCSIPPFSCE DLCSALSCNQ
SLVTLDLGQN PLGSSGVKML FETLTCSSGT LRTLRLKIDD FNDELNKLLE EIEEKNPQLI
IDTEKHHPWA ERPSSHDFMI *
mutated AA sequence MVSSAQMGFN LQALLEQLSQ DELSKFKYLI TTFSLAHELQ KIPHKEVDKA DGKQLVEILT
THCDSYWVEM ASLQVFEKMH RMDLSERAKD EVREAALKSF NKRKPLSLGI TRKERPPLDV
DEMLERFKTE AQDKDNRCRY ILKTKFREMW KSWPGDSKEV QVMAERYKML IPFSNPRVLP
GPFSYTVVLY GPAGLGKTTL AQKLMLDWAE DNLIHKFKYA FYLSCRELSR LGPCSFAELV
FRDWPELQDD IPHILAQARK ILFVIDGFDE LGAAPGALIE DICGDWEKKK PVPVLLGSLL
NRVMLPKAAL LVTTRPRALR DLRILAEEPI YIRVEGFLEE DRRAYFLRHF GDEDQAMRAF
ELMRSNAALF QLGSAPAVCW IVCTTLKLQM EKGEDPVPTC LTRTGLFLRF LCSRFPQGAQ
LRGALRTLSL LAAQGLWAQT SVLHREDLER LGVQESDLRL FLDGDILRQD RVSKGCYSFI
HLSFQQFLTA LFYTLEKEEE EDRDGHTWDI GDVQKLLSGV ERLRNPDLIQ AGYYSFGLAN
EKRAKELEAT FGCRMSPDIK QELLRCDISC KGGHSTVTDL QELLGCLYES QEEELVKEVM
AQFKEISLHL NAVDVVPSSF CVKHCRNLQK MSLQVIKENL PENVTASESD AEVERSQDDQ
HMLPFWTDLC SIFGSNKDLM GLAINDSFLS ASLVRILCEQ IASDTCHLQR VVFKNISPAD
AHRNLCLALR GHKTVTYLTL QGNDQDDMFP ALCEVLRHPE CNLRYLGLVS CSATTQQWAD
LSLALEVNQS LTCVNLSDNE LLDEGAKLLY TTLRHPKCFL QRLSLENCHL TEANCKDLAA
VLVVSRELTH LCLAKNPIGN TGVKFLCEGL RYPECKLQTL VLWNCDITSD GCCDLTKLLQ
EKSSLLCLDL GLNHIGVKGM KFLCEALRKP LCNLRCLWLW GCSIPPFSCE DLCSALSCNQ
SLVTLDLGQN PLGSSGVKML FETLTCSSGT LRTLRLKIDD FNDELNKLLE EIEEKNPQLI
IDTEKHHPWE ERPSSHDFMI *
speed 1.28 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