Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999988969487165 (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) chr19:16899865A>GN/A show variant in all transcripts   IGV
HGNC symbol NWD1
Ensembl transcript ID ENST00000552788
Genbank transcript ID N/A
UniProt peptide Q149M9
alteration type single base exchange
alteration region CDS
DNA changes c.2804A>G
cDNA.2804A>G
g.69079A>G
AA changes H935R Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 935
frameshift no
known variant Reference ID: rs2608738
databasehomozygous (G/G)heterozygousallele carriers
1000G263488751
ExAC164279979639
regulatory features H3K9me3, Histone, Histone 3 Lysine 9 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.1860.85
1.9340.838
(flanking)0.0610.582
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained690730.95mu: TTACACGCTGCGCTT ACAC|gctg
distance from splice site 73
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      935LANSASKDYTLHLWNLLSGQEKFT
mutated  not conserved    935LANSASKDYTLRLWNLLSGQEKF
Ptroglodytes  not conserved  ENSPTRG00000010653  652LAISASKDYTLRLWNLLSGQEKF
Mmulatta  not conserved  ENSMMUG00000018503  908LAISASKDYTLRLWNLLTGQEKF
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000048148  935LAISASKDHTLRLWSLLSGQEKV
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  all conserved  FBgn0038397  1234DYAVAGVRKNLYVWCLQSGQLAKV
Celegans  not conserved  T05C3.2  1361LDHTIKIWNMENIFEK
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
908947REPEATWD 3.lost
956994REPEATWD 4.might get lost (downstream of altered splice site)
994994CONFLICTH -> Y (in Ref. 1; CAH18655).might get lost (downstream of altered splice site)
9981037REPEATWD 5.might get lost (downstream of altered splice site)
10441082REPEATWD 6.might get lost (downstream of altered splice site)
10561056CONFLICTK -> R (in Ref. 1; CAH18655).might get lost (downstream of altered splice site)
10831121REPEATWD 7.might get lost (downstream of altered splice site)
11261165REPEATWD 8.might get lost (downstream of altered splice site)
11411141CONFLICTN -> S (in Ref. 1; CAH18655).might get lost (downstream of altered splice site)
11671207REPEATWD 9.might get lost (downstream of altered splice site)
11711171CONFLICTG -> R (in Ref. 1; CAH18655).might get lost (downstream of altered splice site)
12121251REPEATWD 10.might get lost (downstream of altered splice site)
12531292REPEATWD 11.might get lost (downstream of altered splice site)
13861425REPEATWD 12.might get lost (downstream of altered splice site)
13991399CONFLICTK -> R (in Ref. 1; CAH18655).might get lost (downstream of altered splice site)
14311470REPEATWD 13.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 4695 / 4695
position (AA) of stopcodon in wt / mu AA sequence 1565 / 1565
position of stopcodon in wt / mu cDNA 4695 / 4695
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 1 / 1
chromosome 19
strand 1
last intron/exon boundary 4394
theoretical NMD boundary in CDS 4343
length of CDS 4695
coding sequence (CDS) position 2804
cDNA position
(for ins/del: last normal base / first normal base)		 2804
gDNA position
(for ins/del: last normal base / first normal base)		 69079
chromosomal position
(for ins/del: last normal base / first normal base)		 16899865
original gDNA sequence snippet TTCAAAGGATTACACGCTGCACTTGTGGAACTTACTCTCTG
altered gDNA sequence snippet TTCAAAGGATTACACGCTGCGCTTGTGGAACTTACTCTCTG
original cDNA sequence snippet TTCAAAGGATTACACGCTGCACTTGTGGAACTTACTCTCTG
altered cDNA sequence snippet TTCAAAGGATTACACGCTGCGCTTGTGGAACTTACTCTCTG
wildtype AA sequence MQRGKPCRAL PTLKCQTFCQ RHGLMFEVVD LRWGIRNIEA TDHLTTELCL EEVDRCWKTS
IGPAFVALIG DQYGPCLIPS RIDEKEWEVL RDHLTARPSD LELVARYFQR DENAFPPTYV
LQAPGTGEAC EPEEATLTSV LRSGAQEARR LGLITQEQWQ HYHRSVIEWE IERSLLSSED
REQGATVFLR EIQDLHKHIL EDCALRMVDR LADGCLDADA QNLLSSLKSH ITDMHPGVLK
THRLPWSRDL VNPKNKTHAC YLKELGEQFV VRANHQVLTR LRELDTAGQE LAWLYQEIRH
HLWQSSEVIQ TFCGRQELLA RLGQQLRHDD SKQHTPLVLF GPPGIGKTAL MCKLAEQMPR
LLGHKTVTVL RLLGTSQMSS DARGLLKSIC FQVCLAYGLP LPPAQVLDAH TRVVQFFHTL
LHTVSCRNFE SLVLLLDAMD DLDSVRHARR VPWLPLNCPP RVHLILSACS GALGVLDTLQ
RVLLDPEAYW EVKPLSGNQG QQMIQLLLAA ARRTLSPVHT DLLWASLPEC GNPGRLRLAF
EEARKWASFT VPVPLATTAE EATHQLCTRL EQTHGQLLVA HVLGYIVSSR HGLSEAELKD
VLSLDDEVLQ DVYRDWTPPS KELLRFPPLL WVRLRRDLGY YLARRPVDGF TLLAIAHRQL
VEVVRERYLS GSERAKRHGV LADFFSGTWS QGTKKLITLP LVGKPLNLDR KVAPQPLWFS
HTVANLRKLK ELPYHLLHSG RLEELKQEVL GSMSWISCRG ISGGIEDLLD DFDLCAPHLD
SPEVGLVREA LQLCRPAVEL RGMERSLLYT ELLARLHFFA TSHPALVGQL CQQAQSWFQL
CAHPVLVPLG GFLQPPGGPL RATLSGCHKG ITAMAWGVEE KLLVIGTQDG IMAVWDMEEQ
HVIHMLTGHT GEVRCVKIFA KGTLANSASK DYTLHLWNLL SGQEKFTIWD GGSKNPAEPQ
IWNLHVDEAH KVVYSASGSK INAWNLETAE PVFHILGDAS DPWMCMAVLA SQATLLTVSR
DGVVSLWSSA TGKLQGKQHM SSIKEETPTC AVSVQKQGKL VTGFSNGSIS LVSSKGDRLL
EKLPDAVRFL VVSEDESLLA AGFGRSVRIF LADSRGFRRF MAMDLEHEDM VETAVFGTEN
NLIITGSLDA LIQVWSLSEQ GTLLDILEGV GAPVSLLARG GALVASASPQ SSSFKVWDLS
DAHRSRVPAP FLDRTGLTAV SHNGSYVYFP KIGDKNKVTI WDLAEGEEQD SLDTSSEIRC
LEVAEQRKLL FTGLVSGVVL VFPLNSRQDV ICIPPPEARK AINCMSLSKC EDRLAIAYDN
IVLVLDITSG DPCPVIDGPR YTFYTQLPET LSSVAILTDY RVVYSMTNGD LFLYECATSK
AFPLETHRSR VACVEVSHKE QLVVSGSEDA LLCLWDLQAR KWKFEMSYTS SYCRGVQCAC
FSKDDKYVYV GLKDRSILVW SVLDGTLLTV QFVHAVVNRI IPTTSGFIAP TRHGYLIREN
FQCLSAKASP QDPLKNFKKA MWMVKSRQRE ELVAAAGAPQ DLESESAQGN ETKSNKCSQV
CLIV*
mutated AA sequence MQRGKPCRAL PTLKCQTFCQ RHGLMFEVVD LRWGIRNIEA TDHLTTELCL EEVDRCWKTS
IGPAFVALIG DQYGPCLIPS RIDEKEWEVL RDHLTARPSD LELVARYFQR DENAFPPTYV
LQAPGTGEAC EPEEATLTSV LRSGAQEARR LGLITQEQWQ HYHRSVIEWE IERSLLSSED
REQGATVFLR EIQDLHKHIL EDCALRMVDR LADGCLDADA QNLLSSLKSH ITDMHPGVLK
THRLPWSRDL VNPKNKTHAC YLKELGEQFV VRANHQVLTR LRELDTAGQE LAWLYQEIRH
HLWQSSEVIQ TFCGRQELLA RLGQQLRHDD SKQHTPLVLF GPPGIGKTAL MCKLAEQMPR
LLGHKTVTVL RLLGTSQMSS DARGLLKSIC FQVCLAYGLP LPPAQVLDAH TRVVQFFHTL
LHTVSCRNFE SLVLLLDAMD DLDSVRHARR VPWLPLNCPP RVHLILSACS GALGVLDTLQ
RVLLDPEAYW EVKPLSGNQG QQMIQLLLAA ARRTLSPVHT DLLWASLPEC GNPGRLRLAF
EEARKWASFT VPVPLATTAE EATHQLCTRL EQTHGQLLVA HVLGYIVSSR HGLSEAELKD
VLSLDDEVLQ DVYRDWTPPS KELLRFPPLL WVRLRRDLGY YLARRPVDGF TLLAIAHRQL
VEVVRERYLS GSERAKRHGV LADFFSGTWS QGTKKLITLP LVGKPLNLDR KVAPQPLWFS
HTVANLRKLK ELPYHLLHSG RLEELKQEVL GSMSWISCRG ISGGIEDLLD DFDLCAPHLD
SPEVGLVREA LQLCRPAVEL RGMERSLLYT ELLARLHFFA TSHPALVGQL CQQAQSWFQL
CAHPVLVPLG GFLQPPGGPL RATLSGCHKG ITAMAWGVEE KLLVIGTQDG IMAVWDMEEQ
HVIHMLTGHT GEVRCVKIFA KGTLANSASK DYTLRLWNLL SGQEKFTIWD GGSKNPAEPQ
IWNLHVDEAH KVVYSASGSK INAWNLETAE PVFHILGDAS DPWMCMAVLA SQATLLTVSR
DGVVSLWSSA TGKLQGKQHM SSIKEETPTC AVSVQKQGKL VTGFSNGSIS LVSSKGDRLL
EKLPDAVRFL VVSEDESLLA AGFGRSVRIF LADSRGFRRF MAMDLEHEDM VETAVFGTEN
NLIITGSLDA LIQVWSLSEQ GTLLDILEGV GAPVSLLARG GALVASASPQ SSSFKVWDLS
DAHRSRVPAP FLDRTGLTAV SHNGSYVYFP KIGDKNKVTI WDLAEGEEQD SLDTSSEIRC
LEVAEQRKLL FTGLVSGVVL VFPLNSRQDV ICIPPPEARK AINCMSLSKC EDRLAIAYDN
IVLVLDITSG DPCPVIDGPR YTFYTQLPET LSSVAILTDY RVVYSMTNGD LFLYECATSK
AFPLETHRSR VACVEVSHKE QLVVSGSEDA LLCLWDLQAR KWKFEMSYTS SYCRGVQCAC
FSKDDKYVYV GLKDRSILVW SVLDGTLLTV QFVHAVVNRI IPTTSGFIAP TRHGYLIREN
FQCLSAKASP QDPLKNFKKA MWMVKSRQRE ELVAAAGAPQ DLESESAQGN ETKSNKCSQV
CLIV*
speed 1.34 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