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
 hyperlink
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 ENST00000262547
Genbank transcript ID NM_001099407
UniProt peptide Q9NVP4
alteration type single base exchange
alteration region CDS
DNA changes c.1060G>A
cDNA.1269G>A
g.51842G>A
AA changes G354S Score: 56 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 354
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      354GRWNLWEASFCGWCGAMLGIPAGC
mutated  not conserved    354GRWNLWEASFCSWCGAML
Ptroglodytes  all identical  ENSPTRG00000013285  354GRWNLWEASFCGWCGAML
Mmulatta  no homologue    
Fcatus  not conserved  ENSFCAG00000006598  268GRRNRPEACFCDWCGATPGISAC
Mmusculus  not conserved  ENSMUSG00000037259  375GCQNLWEASFCDWCGAMLGISAS
Ggallus  no homologue    
Trubripes  not conserved  ENSTRUG00000012074  347KWLNHHKSRFCSCCGSEPVCAAT
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 2259 / 2259
position (AA) of stopcodon in wt / mu AA sequence 753 / 753
position of stopcodon in wt / mu cDNA 2468 / 2468
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 2303
theoretical NMD boundary in CDS 2043
length of CDS 2259
coding sequence (CDS) position 1060
cDNA position
(for ins/del: last normal base / first normal base)		 1269
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
KDSSRQEFKN GFVGSKLKKK YKNSENQRSW NVNLRKFPES PLEIPAYGGG SGSRPPTRQS
QSPGFAHVSG QKCLTSTEIM RIQRETDFLK CAHCLAPRPS DPFARFCQEC GSPVPPIFGC
RLPPPEGAQM GLCAECRSLV PMNTPICVVC EAPLALQLQP QASLHLKEKV ICRACGTGNP
AHLRYCVTCE GALPSSQESM CSGDKAPPPP TQKGGTISCY RCGRWNLWEA SFCGWCGAML
GIPAGCSVCP KCGASNHLSA RFCGSCGICV KSLVKLSLDR SLALAAEEPR PFSESLNIPL
PRSDVGTKRD IGTQTVGLFY PSGKLLAKKE QELASQKQRQ EKMSDHKPLL TAISPGRGYW
RRQLDHISAH LRCYAQNNPE FRALIAEPRM GKLISATVHE DGCEVSIRLN YSQVSNKNLY
LNKAVNFSDH LLSSAAEGDG GLCGSRSSWV SDYSQSTSDT IEKIKRIKNF KTKTFQEKKE
QLIPENRLLL KEVGPTGEGR VSVIEQLLDE GADPNCCDED NRPVITVAVM NKHHEAIPVL
VQRGADIDQQ WGPLRNTALH EATLLGLAGR ESTATLLGCN ASIQKKNAGG QTAYDLALNT
GDDLVTSLFA AKFGQGLEDQ LAQTRSLSLD DC*
mutated AA sequence MTAGSVCVPQ IIPLRVPQPG KANHEIDNNT LLEMKSDTPD VNIYYTLDGS KPEFLKRIGY
GENNTFKYIK PITLPDGKIQ VKAIAVSKDC RQSGIVTKVF HVDYEPPNIV SPEDNVENVL
KDSSRQEFKN GFVGSKLKKK YKNSENQRSW NVNLRKFPES PLEIPAYGGG SGSRPPTRQS
QSPGFAHVSG QKCLTSTEIM RIQRETDFLK CAHCLAPRPS DPFARFCQEC GSPVPPIFGC
RLPPPEGAQM GLCAECRSLV PMNTPICVVC EAPLALQLQP QASLHLKEKV ICRACGTGNP
AHLRYCVTCE GALPSSQESM CSGDKAPPPP TQKGGTISCY RCGRWNLWEA SFCSWCGAML
GIPAGCSVCP KCGASNHLSA RFCGSCGICV KSLVKLSLDR SLALAAEEPR PFSESLNIPL
PRSDVGTKRD IGTQTVGLFY PSGKLLAKKE QELASQKQRQ EKMSDHKPLL TAISPGRGYW
RRQLDHISAH LRCYAQNNPE FRALIAEPRM GKLISATVHE DGCEVSIRLN YSQVSNKNLY
LNKAVNFSDH LLSSAAEGDG GLCGSRSSWV SDYSQSTSDT IEKIKRIKNF KTKTFQEKKE
QLIPENRLLL KEVGPTGEGR VSVIEQLLDE GADPNCCDED NRPVITVAVM NKHHEAIPVL
VQRGADIDQQ WGPLRNTALH EATLLGLAGR ESTATLLGCN ASIQKKNAGG QTAYDLALNT
GDDLVTSLFA AKFGQGLEDQ LAQTRSLSLD DC*
speed 1.11 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