Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999959889863094 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM981388)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr7:150696111T>GN/A show variant in all transcripts   IGV
HGNC symbol NOS3
Ensembl transcript ID ENST00000484524
Genbank transcript ID NM_001160111
UniProt peptide P29474
alteration type single base exchange
alteration region CDS
DNA changes c.894T>G
cDNA.894T>G
g.8029T>G
AA changes D298E Score: 45 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 298
frameshift no
known variant Reference ID: rs1799983
databasehomozygous (G/G)heterozygousallele carriers
1000G17376512388
ExAC---

known disease mutation at this position, please check HGMD for details (HGMD ID CM981388)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)4.4981
-0.0730.967
(flanking)0.7790.978
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased8033wt: 0.65 / mu: 0.77wt: ATCCCCCAGAACTCT
mu: AGCCCCCAGAACTCT		 CCCC|caga
Donor marginally increased8023wt: 0.9213 / mu: 0.9981 (marginal change - not scored)wt: GCCCCAGATGATCCC
mu: GCCCCAGATGAGCCC		 CCCA|gatg
Donor increased8021wt: 0.20 / mu: 0.33wt: AGGCCCCAGATGATC
mu: AGGCCCCAGATGAGC		 GCCC|caga
distance from splice site 63
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      298DVLPLLLQAPDDPPELFLLPPELV
mutated  all conserved    298DVLPLLLQAPDEPP
Ptroglodytes  all conserved  ENSPTRG00000019868  298DVLPLLLQAPDEPP
Mmulatta  all conserved  ENSMMUG00000020437  293DVLPLLLQAPDEPP
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000028978  297DVLPLLLQAPDEPPELFTLPPEM
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000011979  250LPLLLQANGDDPKLFEIPPEL
protein features
start (aa)end (aa)featuredetails 
98486REGIONInteraction with NOSIP.lost
301303STRANDmight get lost (downstream of altered splice site)
307309HELIXmight get lost (downstream of altered splice site)
312314STRANDmight get lost (downstream of altered splice site)
321326HELIXmight get lost (downstream of altered splice site)
329332STRANDmight get lost (downstream of altered splice site)
340343STRANDmight get lost (downstream of altered splice site)
346349STRANDmight get lost (downstream of altered splice site)
359363HELIXmight get lost (downstream of altered splice site)
365368HELIXmight get lost (downstream of altered splice site)
370373TURNmight get lost (downstream of altered splice site)
376382HELIXmight get lost (downstream of altered splice site)
390392HELIXmight get lost (downstream of altered splice site)
394413HELIXmight get lost (downstream of altered splice site)
414414CONFLICTK -> R (in Ref. 10; BAF85617).might get lost (downstream of altered splice site)
420438HELIXmight get lost (downstream of altered splice site)
445448HELIXmight get lost (downstream of altered splice site)
451453STRANDmight get lost (downstream of altered splice site)
454456HELIXmight get lost (downstream of altered splice site)
458461HELIXmight get lost (downstream of altered splice site)
470474STRANDmight get lost (downstream of altered splice site)
489489CONFLICTG -> S (in Ref. 18; AAD14336).might get lost (downstream of altered splice site)
491510REGIONCalmodulin-binding (Potential).might get lost (downstream of altered splice site)
495495MOD_RESPhosphothreonine; by AMPK (By similarity).might get lost (downstream of altered splice site)
497505HELIXmight get lost (downstream of altered splice site)
520703DOMAINFlavodoxin-like.might get lost (downstream of altered splice site)
567567CONFLICTV -> W (in Ref. 5; CAA53950).might get lost (downstream of altered splice site)
633633MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
649680NP_BINDFMN (By similarity).might get lost (downstream of altered splice site)
7561002DOMAINFAD-binding FR-type.might get lost (downstream of altered splice site)
793804NP_BINDFAD (By similarity).might get lost (downstream of altered splice site)
935945NP_BINDFAD (By similarity).might get lost (downstream of altered splice site)
10101028NP_BINDNADP (By similarity).might get lost (downstream of altered splice site)
11081123NP_BINDNADP (By similarity).might get lost (downstream of altered splice site)
11501150CONFLICTR -> RQ (in Ref. 6; BAA05652).might get lost (downstream of altered splice site)
11751175MOD_RESPhosphothreonine (By similarity).might get lost (downstream of altered splice site)
11771177MOD_RESPhosphoserine; by AMPK (By similarity).might get lost (downstream of altered splice site)
11941194CONFLICTD -> E (in Ref. 5; CAA53950).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1890 / 1890
position (AA) of stopcodon in wt / mu AA sequence 630 / 630
position of stopcodon in wt / mu cDNA 1890 / 1890
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 7
strand 1
last intron/exon boundary 1753
theoretical NMD boundary in CDS 1702
length of CDS 1890
coding sequence (CDS) position 894
cDNA position
(for ins/del: last normal base / first normal base)		 894
gDNA position
(for ins/del: last normal base / first normal base)		 8029
chromosomal position
(for ins/del: last normal base / first normal base)		 150696111
original gDNA sequence snippet CTGCTGCAGGCCCCAGATGATCCCCCAGAACTCTTCCTTCT
altered gDNA sequence snippet CTGCTGCAGGCCCCAGATGAGCCCCCAGAACTCTTCCTTCT
original cDNA sequence snippet CTGCTGCAGGCCCCAGATGATCCCCCAGAACTCTTCCTTCT
altered cDNA sequence snippet CTGCTGCAGGCCCCAGATGAGCCCCCAGAACTCTTCCTTCT
wildtype AA sequence MGNLKSVAQE PGPPCGLGLG LGLGLCGKQG PATPAPEPSR APASLLPPAP EHSPPSSPLT
QPPEGPKFPR VKNWEVGSIT YDTLSAQAQQ DGPCTPRRCL GSLVFPRKLQ GRPSPGPPAP
EQLLSQARDF INQYYSSIKR SGSQAHEQRL QEVEAEVAAT GTYQLRESEL VFGAKQAWRN
APRCVGRIQW GKLQVFDARD CRSAQEMFTY ICNHIKYATN RGNLRSAITV FPQRCPGRGD
FRIWNSQLVR YAGYRQQDGS VRGDPANVEI TELCIQHGWT PGNGRFDVLP LLLQAPDDPP
ELFLLPPELV LEVPLEHPTL EWFAALGLRW YALPAVSNML LEIGGLEFPA APFSGWYMST
EIGTRNLCDP HRYNILEDVA VCMDLDTRTT SSLWKDKAAV EINVAVLHSY QLAKVTIVDH
HAATASFMKH LENEQKARGG CPADWAWIVP PISGSLTPVF HQEMVNYFLS PAFRYQPDPW
KGSAAKGTGI TRKKTFKEVA NAVKISASLM GTVMAKRVKA TILYGSETGR AQSYAQQLGR
LFRKAFDPRV LCMDEYDVVS LEHETLVLVV TSTFGNGDPP ENGEGLTLWP RLECSSTITA
HCSLNLLDSS NPPTSTSQVV GTTGACHDA*
mutated AA sequence MGNLKSVAQE PGPPCGLGLG LGLGLCGKQG PATPAPEPSR APASLLPPAP EHSPPSSPLT
QPPEGPKFPR VKNWEVGSIT YDTLSAQAQQ DGPCTPRRCL GSLVFPRKLQ GRPSPGPPAP
EQLLSQARDF INQYYSSIKR SGSQAHEQRL QEVEAEVAAT GTYQLRESEL VFGAKQAWRN
APRCVGRIQW GKLQVFDARD CRSAQEMFTY ICNHIKYATN RGNLRSAITV FPQRCPGRGD
FRIWNSQLVR YAGYRQQDGS VRGDPANVEI TELCIQHGWT PGNGRFDVLP LLLQAPDEPP
ELFLLPPELV LEVPLEHPTL EWFAALGLRW YALPAVSNML LEIGGLEFPA APFSGWYMST
EIGTRNLCDP HRYNILEDVA VCMDLDTRTT SSLWKDKAAV EINVAVLHSY QLAKVTIVDH
HAATASFMKH LENEQKARGG CPADWAWIVP PISGSLTPVF HQEMVNYFLS PAFRYQPDPW
KGSAAKGTGI TRKKTFKEVA NAVKISASLM GTVMAKRVKA TILYGSETGR AQSYAQQLGR
LFRKAFDPRV LCMDEYDVVS LEHETLVLVV TSTFGNGDPP ENGEGLTLWP RLECSSTITA
HCSLNLLDSS NPPTSTSQVV GTTGACHDA*
speed 1.10 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