Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999991833671765 (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 ENST00000523826
Genbank transcript ID N/A
UniProt peptide Q149M9
alteration type single base exchange
alteration region CDS
DNA changes c.2186A>G
cDNA.2874A>G
g.69079A>G
AA changes H729R Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 729
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      729LANSASKDYTLHLWNLLSGQEKFT
mutated  not conserved    729SASKDYTLRLWNLLSGQEKF
Ptroglodytes  not conserved  ENSPTRG00000010653  652LAISASKDYTLRLWNLLSGQEKF
Mmulatta  not conserved  ENSMMUG00000018503  908LAISASKDYTLRLWNLLTGQEKF
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000048148  935SASKDHTLRLWSLLSGQEKV
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 
866905REPEATWD 2.might get lost (downstream of altered splice site)
908947REPEATWD 3.might get lost (downstream of altered splice site)
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 4077 / 4077
position (AA) of stopcodon in wt / mu AA sequence 1359 / 1359
position of stopcodon in wt / mu cDNA 4765 / 4765
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 689 / 689
chromosome 19
strand 1
last intron/exon boundary 4464
theoretical NMD boundary in CDS 3725
length of CDS 4077
coding sequence (CDS) position 2186
cDNA position
(for ins/del: last normal base / first normal base)		 2874
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 MVDRLADGCL DADAQNLLSS LKSHITDMHP GVLKTHRLPW SRDLVNPKNK THACYLKELG
EQFVVRANHQ VLTRLRELDT AGQELAWLYQ EIRHHLWQSS EVIQTFCGRQ ELLARLGQQL
RHDDSKQHTP LVLFGPPGIG KTALMCKLAE QMPRLLGHKT VTVLRLLGTS QMSSDARGLL
KSICFQVCLA YGLPLPPAQV LDAHTRVVQF FHTLLHTVSC RNFESLVLLL DAMDDLDSVR
HARRVPWLPL NCPPRVHLIL SACSGALGVL DTLQRVLLDP EAYWEVKPLS GNQGQQMIQL
LLAAARRTLS PVHTDLLWAS LPECGNPGRL RLAFEEARKW ASFTVPVPLA TTAEEATHQL
CTRLEQTHGQ LLVAHVLGYI VSSRHGLSEA ELKDVLSLDD EVLQDVYRDW TPPSKELLRF
PPLLWVRLRR DLGYYLARRP VDGFTLLAIA HRQLVEVVRE RYLSGSERAK RHGVLADFFS
GTWSQGTKKL ITLPLVGKPL NLDRKVAPQP LWFSHTVANL RKLKELPYHL LHSGRLEELK
QEVLGSMSWI SCRGISGGIE DLLDDFDLCA PHLDSPEVGL VREALQLCRP AVELRGMERS
LLYTELLARL HFFATSHPAL VGQLCQQAQS WFQLCAHPVL VPLGGFLQPP GGPLRATLSG
CHKGITAMAW GVEEKLLVIG TQDGIMAVWD MEEQHVIHML TGHTGEVRCV KIFAKGTLAN
SASKDYTLHL WNLLSGQEKF TIWDGGSKNP AEPQIWNLHV DEAHKVVYSA SGSKINAWNL
ETAEPVFHIL GDASDPWMCM AVLASQATLL TVSRDGVVSL WSSATGKLQG KQHMSSIKEE
TPTCAVSVQK QGKLVTGFSN GSISLVSSKG DRLLEKLPDA VRFLVVSEDE SLLAAGFGRS
VRIFLADSRG FRRFMAMDLE HEDMVETAVF GTENNLIITG SLDALIQVWS LSEQGTLLDI
LEGVGAPVSL LARGGALVAS ASPQSSSFKV WDLSDAHRSR VPAPFLDRTG LTAVSHNGSY
VYFPKIGDKN KVTIWDLAEG EEQDSLDTSS EIRCLEVAEQ RKLLFTGLVS GVVLVFPLNS
RQDVICIPPP EARKAINCMS LSKCEDRLAI AYDNIVLVLD ITSGDPCPVI DGPRYTFYTQ
LPETLSSVAI LTDYRVVYSM TNGDLFLYEC ATSKAFPLET HRSRVACVEV SHKEQLVVSG
SEDALLCLWD LQARKWKFEM SYTSSYCRGV QCACFSKDDK YVYVGLKDRS ILVWSVLDGT
LLTVQFVHAV VNRIIPTTSG FIAPTRHGYL IRENFQCLSA KASPQDPLKN FKKAMWMVKS
RQREELVAAA GAPQDLESES AQGNETKSNK CSQVCLIV*
mutated AA sequence MVDRLADGCL DADAQNLLSS LKSHITDMHP GVLKTHRLPW SRDLVNPKNK THACYLKELG
EQFVVRANHQ VLTRLRELDT AGQELAWLYQ EIRHHLWQSS EVIQTFCGRQ ELLARLGQQL
RHDDSKQHTP LVLFGPPGIG KTALMCKLAE QMPRLLGHKT VTVLRLLGTS QMSSDARGLL
KSICFQVCLA YGLPLPPAQV LDAHTRVVQF FHTLLHTVSC RNFESLVLLL DAMDDLDSVR
HARRVPWLPL NCPPRVHLIL SACSGALGVL DTLQRVLLDP EAYWEVKPLS GNQGQQMIQL
LLAAARRTLS PVHTDLLWAS LPECGNPGRL RLAFEEARKW ASFTVPVPLA TTAEEATHQL
CTRLEQTHGQ LLVAHVLGYI VSSRHGLSEA ELKDVLSLDD EVLQDVYRDW TPPSKELLRF
PPLLWVRLRR DLGYYLARRP VDGFTLLAIA HRQLVEVVRE RYLSGSERAK RHGVLADFFS
GTWSQGTKKL ITLPLVGKPL NLDRKVAPQP LWFSHTVANL RKLKELPYHL LHSGRLEELK
QEVLGSMSWI SCRGISGGIE DLLDDFDLCA PHLDSPEVGL VREALQLCRP AVELRGMERS
LLYTELLARL HFFATSHPAL VGQLCQQAQS WFQLCAHPVL VPLGGFLQPP GGPLRATLSG
CHKGITAMAW GVEEKLLVIG TQDGIMAVWD MEEQHVIHML TGHTGEVRCV KIFAKGTLAN
SASKDYTLRL WNLLSGQEKF TIWDGGSKNP AEPQIWNLHV DEAHKVVYSA SGSKINAWNL
ETAEPVFHIL GDASDPWMCM AVLASQATLL TVSRDGVVSL WSSATGKLQG KQHMSSIKEE
TPTCAVSVQK QGKLVTGFSN GSISLVSSKG DRLLEKLPDA VRFLVVSEDE SLLAAGFGRS
VRIFLADSRG FRRFMAMDLE HEDMVETAVF GTENNLIITG SLDALIQVWS LSEQGTLLDI
LEGVGAPVSL LARGGALVAS ASPQSSSFKV WDLSDAHRSR VPAPFLDRTG LTAVSHNGSY
VYFPKIGDKN KVTIWDLAEG EEQDSLDTSS EIRCLEVAEQ RKLLFTGLVS GVVLVFPLNS
RQDVICIPPP EARKAINCMS LSKCEDRLAI AYDNIVLVLD ITSGDPCPVI DGPRYTFYTQ
LPETLSSVAI LTDYRVVYSM TNGDLFLYEC ATSKAFPLET HRSRVACVEV SHKEQLVVSG
SEDALLCLWD LQARKWKFEM SYTSSYCRGV QCACFSKDDK YVYVGLKDRS ILVWSVLDGT
LLTVQFVHAV VNRIIPTTSG FIAPTRHGYL IRENFQCLSA KASPQDPLKN FKKAMWMVKS
RQREELVAAA GAPQDLESES AQGNETKSNK CSQVCLIV*
speed 1.27 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