Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999877981582491 (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
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analysed issue analysis result
name of alteration no title
alteration (phys. location) chr20:18395988C>TN/A show variant in all transcripts   IGV
HGNC symbol DZANK1
Ensembl transcript ID ENST00000329494
Genbank transcript ID N/A
UniProt peptide Q9NVP4
alteration type single base exchange
alteration region CDS
DNA changes c.1066G>A
cDNA.1275G>A
g.51842G>A
AA changes G356S Score: 56 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 356
frameshift no
known variant Reference ID: rs6035037
databasehomozygous (T/T)heterozygousallele carriers
1000G1898731062
ExAC51152253727652
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)0.4891
1.6580.999
(flanking)-0.1320.993
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased51843wt: 0.5329 / mu: 0.5578 (marginal change - not scored)wt: CTGGGAGGCGTCCTTCTGCGGCTGGTGTGGAGCCATGGTGG
mu: CTGGGAGGCGTCCTTCTGCAGCTGGTGTGGAGCCATGGTGG		 gcgg|CTGG
distance from splice site 18
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      356GRWNLWEASFCGWCGAMLGIPAGC
mutated  not conserved    356GRWNLWEASFCSWCGA
Ptroglodytes  all identical  ENSPTRG00000013285  354GRWNLWEASFCGWCGA
Mmulatta  no homologue    
Fcatus  not conserved  ENSFCAG00000006598  268GRRNRPEACFCDWCGATPGISAC
Mmusculus  not conserved  ENSMUSG00000037259  375GCQNLWEASFCDWCGAMLGISAS
Ggallus  no homologue    
Trubripes  not conserved  ENSTRUG00000012074  347CSCCGSEPVCAAT
Drerio  not conserved  ENSDARG00000055787  353NRVNHSDARFCDWCGAKPGHKAS
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000013794  370GRVNHSDARFCDWCGAKPSSPIS
protein features
start (aa)end (aa)featuredetails 
339387ZN_FINGDZANK-type 2.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2193 / 2193
position (AA) of stopcodon in wt / mu AA sequence 731 / 731
position of stopcodon in wt / mu cDNA 2402 / 2402
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 210 / 210
chromosome 20
strand -1
last intron/exon boundary 2237
theoretical NMD boundary in CDS 1977
length of CDS 2193
coding sequence (CDS) position 1066
cDNA position
(for ins/del: last normal base / first normal base)		 1275
gDNA position
(for ins/del: last normal base / first normal base)		 51842
chromosomal position
(for ins/del: last normal base / first normal base)		 18395988
original gDNA sequence snippet TCTGGGAGGCGTCCTTCTGCGGCTGGTGTGGAGCCATGGTG
altered gDNA sequence snippet TCTGGGAGGCGTCCTTCTGCAGCTGGTGTGGAGCCATGGTG
original cDNA sequence snippet TCTGGGAGGCGTCCTTCTGCGGCTGGTGTGGAGCCATGCTC
altered cDNA sequence snippet TCTGGGAGGCGTCCTTCTGCAGCTGGTGTGGAGCCATGCTC
wildtype AA sequence MTAGSVCVPQ IIPLRVPQPG KANHEIDNNT LLEMKSDTPD VNIYYTLDGS KPEFLKRIGY
GENNTFKYIK PITLPDGKIQ VKAIAVSKDC RQSGIVTKVF HVDYEPPNIV SPEDNVENVL
KDSSRQAREF KNGFVGSKLK KKYKNSENQR SWNVNLRKFP ESPLEIPAYG GGSGSRPPTR
QSQSPGFAHV SGQKCLTSTE IMRIQRETDF LKCAHCLAPR PSDPFARFCQ ECGSPVPPIF
GCRLPPPEGA QMGLCAECRS LVPMNTPICV VCEAPLALQL QPQASLHLKE KVICRACGTG
NPAHLRYCVT CEGALPSSQE SMCSGDKAPP PPTQKGGTIS CYRCGRWNLW EASFCGWCGA
MLGIPAGCSV CPKCGASNHL SARFCGSCGI CVKSLVKLSL DRSLALAAEE PRPFSESLNI
PLPRSDVGTK RDIGTQTVGL FYPSGKLLAK KEQELASQKQ RQEKMSDHKP LLTAISPGRG
YWRRQLDHIS AHLRCYAQNN PEFRALIAEP RMGKLISATV HEDGCEVSIR LNYSQVSNKV
RKLRLREVKQ PASSKGTKLA GRPLIKNFKT KTFQEKKEQL IPENRLLLKE VGPTGEGRVS
VIEQLLDEGA DPNCCDEDNR PVITVAVMNK HHEAIPVLVQ RGADIDQQWG PLRNTALHEA
TLLGLAGRES TATLLGCNAS IQKKNAGGQT AYDLALNTGD DLVTSLFAAK FGQGLEDQLA
QTRSLSLDDC *
mutated AA sequence MTAGSVCVPQ IIPLRVPQPG KANHEIDNNT LLEMKSDTPD VNIYYTLDGS KPEFLKRIGY
GENNTFKYIK PITLPDGKIQ VKAIAVSKDC RQSGIVTKVF HVDYEPPNIV SPEDNVENVL
KDSSRQAREF KNGFVGSKLK KKYKNSENQR SWNVNLRKFP ESPLEIPAYG GGSGSRPPTR
QSQSPGFAHV SGQKCLTSTE IMRIQRETDF LKCAHCLAPR PSDPFARFCQ ECGSPVPPIF
GCRLPPPEGA QMGLCAECRS LVPMNTPICV VCEAPLALQL QPQASLHLKE KVICRACGTG
NPAHLRYCVT CEGALPSSQE SMCSGDKAPP PPTQKGGTIS CYRCGRWNLW EASFCSWCGA
MLGIPAGCSV CPKCGASNHL SARFCGSCGI CVKSLVKLSL DRSLALAAEE PRPFSESLNI
PLPRSDVGTK RDIGTQTVGL FYPSGKLLAK KEQELASQKQ RQEKMSDHKP LLTAISPGRG
YWRRQLDHIS AHLRCYAQNN PEFRALIAEP RMGKLISATV HEDGCEVSIR LNYSQVSNKV
RKLRLREVKQ PASSKGTKLA GRPLIKNFKT KTFQEKKEQL IPENRLLLKE VGPTGEGRVS
VIEQLLDEGA DPNCCDEDNR PVITVAVMNK HHEAIPVLVQ RGADIDQQWG PLRNTALHEA
TLLGLAGRES TATLLGCNAS IQKKNAGGQT AYDLALNTGD DLVTSLFAAK FGQGLEDQLA
QTRSLSLDDC *
speed 0.46 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