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 ENST00000339803
Genbank transcript ID N/A
UniProt peptide Q149M9
alteration type single base exchange
alteration region CDS
DNA changes c.2399A>G
cDNA.2399A>G
g.69079A>G
AA changes H800R Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 800
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      800LANSASKDYTLHLWNLLSGQEKFT
mutated  not conserved    800LANSASKDYTLRLWNLLSGQEKF
Ptroglodytes  not conserved  ENSPTRG00000010653  652LAISASKDYTLRLWNLLSGQEKF
Mmulatta  not conserved  ENSMMUG00000018503  908ISASKDYTLRLWNLLTGQEKF
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 
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 4290 / 4290
position (AA) of stopcodon in wt / mu AA sequence 1430 / 1430
position of stopcodon in wt / mu cDNA 4290 / 4290
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 3989
theoretical NMD boundary in CDS 3938
length of CDS 4290
coding sequence (CDS) position 2399
cDNA position
(for ins/del: last normal base / first normal base)		 2399
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 MDSQFHMAGE ASQSWLKAKE KQRGTSYMVA VIEWEIERSL LSSEDREQGA TVFLREIQDL
HKHILEDCAL RMVDRLADGC LDADAQNLLS SLKSHITDMH PGVLKTHRLP WSRDLVNPKN
KTHACYLKEL GEQFVVRANH QVLTRLRELD TAGQELAWLY QEIRHHLWQS SEVIQTFCGR
QELLARLGQQ LRHDDSKQHT PLVLFGPPGI GKTALMCKLA EQMPRLLGHK TVTVLRLLGT
SQMSSDARGL LKSICFQVCL AYGLPLPPAQ VLDAHTRVVQ FFHTLLHTVS CRNFESLVLL
LDAMDDLDSV RHARRVPWLP LNCPPRVHLI LSACSGALGV LDTLQRVLLD PEAYWEVKPL
SGNQGQQMIQ LLLAAARRTL SPVHTDLLWA SLPECGNPGR LRLAFEEARK WASFTVPVPL
ATTAEEATHQ LCTRLEQTHG QLLVAHVLGY IVSSRHGLSE AELKDVLSLD DEVLQDVYRD
WTPPSKELLR FPPLLWVRLR RDLGYYLARR PVDGFTLLAI AHRQLVEVVR ERYLSGSERA
KRHGVLADFF SGTWSQGTKK LITLPLVGKP LNLDRKVAPQ PLWFSHTVAN LRKLKELPYH
LLHSGRLEEL KQEVLGSMSW ISCRGISGGI EDLLDDFDLC APHLDSPEVG LVREALQLCR
PAVELRGMER SLLYTELLAR LHFFATSHPA LVGQLCQQAQ SWFQLCAHPV LVPLGGFLQP
PGGPLRATLS GCHKGITAMA WGVEEKLLVI GTQDGIMAVW DMEEQHVIHM LTGHTGEVRC
VKIFAKGTLA NSASKDYTLH LWNLLSGQEK FTIWDGGSKN PAEPQIWNLH VDEAHKVVYS
ASGSKINAWN LETAEPVFHI LGDASDPWMC MAVLASQATL LTVSRDGVVS LWSSATGKLQ
GKQHMSSIKE ETPTCAVSVQ KQGKLVTGFS NGSISLVSSK GDRLLEKLPD AVRFLVVSED
ESLLAAGFGR SVRIFLADSR GFRRFMAMDL EHEDMVETAV FGTENNLIIT GSLDALIQVW
SLSEQGTLLD ILEGVGAPVS LLARGGALVA SASPQSSSFK VWDLSDAHRS RVPAPFLDRT
GLTAVSHNGS YVYFPKIGDK NKVTIWDLAE GEEQDSLDTS SEIRCLEVAE QRKLLFTGLV
SGVVLVFPLN SRQDVICIPP PEARKAINCM SLSKCEDRLA IAYDNIVLVL DITSGDPCPV
IDGPRYTFYT QLPETLSSVA ILTDYRVVYS MTNGDLFLYE CATSKAFPLE THRSRVACVE
VSHKEQLVVS GSEDALLCLW DLQARKWKFE MSYTSSYCRG VQCACFSKDD KYVYVGLKDR
SILVWSVLDG TLLTVQFVHA VVNRIIPTTS GFIAPTRHGY LIRENFQCLS AKASPQDPLK
NFKKAMWMVK SRQREELVAA AGAPQDLESE SAQGNETKSN KCSQVCLIV*
mutated AA sequence MDSQFHMAGE ASQSWLKAKE KQRGTSYMVA VIEWEIERSL LSSEDREQGA TVFLREIQDL
HKHILEDCAL RMVDRLADGC LDADAQNLLS SLKSHITDMH PGVLKTHRLP WSRDLVNPKN
KTHACYLKEL GEQFVVRANH QVLTRLRELD TAGQELAWLY QEIRHHLWQS SEVIQTFCGR
QELLARLGQQ LRHDDSKQHT PLVLFGPPGI GKTALMCKLA EQMPRLLGHK TVTVLRLLGT
SQMSSDARGL LKSICFQVCL AYGLPLPPAQ VLDAHTRVVQ FFHTLLHTVS CRNFESLVLL
LDAMDDLDSV RHARRVPWLP LNCPPRVHLI LSACSGALGV LDTLQRVLLD PEAYWEVKPL
SGNQGQQMIQ LLLAAARRTL SPVHTDLLWA SLPECGNPGR LRLAFEEARK WASFTVPVPL
ATTAEEATHQ LCTRLEQTHG QLLVAHVLGY IVSSRHGLSE AELKDVLSLD DEVLQDVYRD
WTPPSKELLR FPPLLWVRLR RDLGYYLARR PVDGFTLLAI AHRQLVEVVR ERYLSGSERA
KRHGVLADFF SGTWSQGTKK LITLPLVGKP LNLDRKVAPQ PLWFSHTVAN LRKLKELPYH
LLHSGRLEEL KQEVLGSMSW ISCRGISGGI EDLLDDFDLC APHLDSPEVG LVREALQLCR
PAVELRGMER SLLYTELLAR LHFFATSHPA LVGQLCQQAQ SWFQLCAHPV LVPLGGFLQP
PGGPLRATLS GCHKGITAMA WGVEEKLLVI GTQDGIMAVW DMEEQHVIHM LTGHTGEVRC
VKIFAKGTLA NSASKDYTLR LWNLLSGQEK FTIWDGGSKN PAEPQIWNLH VDEAHKVVYS
ASGSKINAWN LETAEPVFHI LGDASDPWMC MAVLASQATL LTVSRDGVVS LWSSATGKLQ
GKQHMSSIKE ETPTCAVSVQ KQGKLVTGFS NGSISLVSSK GDRLLEKLPD AVRFLVVSED
ESLLAAGFGR SVRIFLADSR GFRRFMAMDL EHEDMVETAV FGTENNLIIT GSLDALIQVW
SLSEQGTLLD ILEGVGAPVS LLARGGALVA SASPQSSSFK VWDLSDAHRS RVPAPFLDRT
GLTAVSHNGS YVYFPKIGDK NKVTIWDLAE GEEQDSLDTS SEIRCLEVAE QRKLLFTGLV
SGVVLVFPLN SRQDVICIPP PEARKAINCM SLSKCEDRLA IAYDNIVLVL DITSGDPCPV
IDGPRYTFYT QLPETLSSVA ILTDYRVVYS MTNGDLFLYE CATSKAFPLE THRSRVACVE
VSHKEQLVVS GSEDALLCLW DLQARKWKFE MSYTSSYCRG VQCACFSKDD KYVYVGLKDR
SILVWSVLDG TLLTVQFVHA VVNRIIPTTS GFIAPTRHGY LIRENFQCLS AKASPQDPLK
NFKKAMWMVK SRQREELVAA AGAPQDLESE SAQGNETKSN KCSQVCLIV*
speed 0.96 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