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 ENST00000357236
Genbank transcript ID N/A
UniProt peptide Q9NVP4
alteration type single base exchange
alteration region CDS
DNA changes c.718G>A
cDNA.1378G>A
g.51842G>A
AA changes G240S Score: 56 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 240
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      240GRWNLWEASFCGWCGAMLGIPAGC
mutated  not conserved    240GRWNLWEASFCSWCGAMLGIPAG
Ptroglodytes  all identical  ENSPTRG00000013285  354GRWNLWEASFCGWCGAML
Mmulatta  no homologue    
Fcatus  not conserved  ENSFCAG00000006598  268GRRNRPEACFCDWCGATPGI
Mmusculus  not conserved  ENSMUSG00000037259  375GCQNLWEASFCDWCGAMLGISAS
Ggallus  no homologue    
Trubripes  not conserved  ENSTRUG00000012074  350KWLNHHKSRFCSCCGSEPVCAAT
Drerio  not conserved  ENSDARG00000055787  353NRVNHSDARFCDWCGAKPGHKAS
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000013794  370GRVNHSDARFCDWCGAKPSSPIS
protein features
start (aa)end (aa)featuredetails 
211270ZN_FINGDZANK-type 1.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1917 / 1917
position (AA) of stopcodon in wt / mu AA sequence 639 / 639
position of stopcodon in wt / mu cDNA 2577 / 2577
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 661 / 661
chromosome 20
strand -1
last intron/exon boundary 2412
theoretical NMD boundary in CDS 1701
length of CDS 1917
coding sequence (CDS) position 718
cDNA position
(for ins/del: last normal base / first normal base)		 1378
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 MLTLESFQRV HWKSQLMVED QVLDHPPASP RQDTVPFTFK SFLFGHSMEI RPWKRKGRTL
FRRLLFQSPG FAHVSGQKCL TSTEIMRIQR ETDFLKCAHC LAPRPSDPFA RFCQECGSPV
PPIFGCRLPP PEGAQMGLCA ECRSLVPMNT PICVVCEAPL ALQLQPQASL HLKEKVICRA
CGTGNPAHLR YCVTCEGALP SSQESMCSGD KAPPPPTQKG GTISCYRCGR WNLWEASFCG
WCGAMLGIPA GCSVCPKCGA SNHLSARFCG SCGICVKSLV KLSLDRSLAL AAEEPRPFSE
SLNIPLPRSD VGTKRDIGTQ TVGLFYPSGK LLAKKEQELA SQKQRQEKMS DHKPLLTAIS
PGRGYWRRQL DHISAHLRCY AQNNPEFRAL IAEPRMGKLI SATVHEDGCE VSIRLNYSQV
SNKNLYLNKA VNFSDHLLSS AAEGDGGLCG SRSSWVSDYS QSTSDTIEKI KRIKNFKTKT
FQEKKEQLIP ENRLLLKEVG PTGEGRVSVI EQLLDEGADP NCCDEDNRPV ITVAVMNKHH
EAIPVLVQRG ADIDQQWGPL RNTALHEATL LGLAGRESTA TLLGCNASIQ KKNAGGQTAY
DLALNTGDDL VTSLFAAKFG QGLEDQLAQT RSLSLDDC*
mutated AA sequence MLTLESFQRV HWKSQLMVED QVLDHPPASP RQDTVPFTFK SFLFGHSMEI RPWKRKGRTL
FRRLLFQSPG FAHVSGQKCL TSTEIMRIQR ETDFLKCAHC LAPRPSDPFA RFCQECGSPV
PPIFGCRLPP PEGAQMGLCA ECRSLVPMNT PICVVCEAPL ALQLQPQASL HLKEKVICRA
CGTGNPAHLR YCVTCEGALP SSQESMCSGD KAPPPPTQKG GTISCYRCGR WNLWEASFCS
WCGAMLGIPA GCSVCPKCGA SNHLSARFCG SCGICVKSLV KLSLDRSLAL AAEEPRPFSE
SLNIPLPRSD VGTKRDIGTQ TVGLFYPSGK LLAKKEQELA SQKQRQEKMS DHKPLLTAIS
PGRGYWRRQL DHISAHLRCY AQNNPEFRAL IAEPRMGKLI SATVHEDGCE VSIRLNYSQV
SNKNLYLNKA VNFSDHLLSS AAEGDGGLCG SRSSWVSDYS QSTSDTIEKI KRIKNFKTKT
FQEKKEQLIP ENRLLLKEVG PTGEGRVSVI EQLLDEGADP NCCDEDNRPV ITVAVMNKHH
EAIPVLVQRG ADIDQQWGPL RNTALHEATL LGLAGRESTA TLLGCNASIQ KKNAGGQTAY
DLALNTGDDL VTSLFAAKFG QGLEDQLAQT RSLSLDDC*
speed 1.12 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