Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999996785 (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) chr20:25187213G>AN/A show variant in all transcripts   IGV
HGNC symbol ENTPD6
Ensembl transcript ID ENST00000376652
Genbank transcript ID NM_001247
UniProt peptide O75354
alteration type single base exchange
alteration region CDS
DNA changes c.41G>A
cDNA.204G>A
g.10885G>A
AA changes S14N Score: 46 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 14
frameshift no
known variant Reference ID: rs2076559
databasehomozygous (A/A)heterozygousallele carriers
1000G3139361249
ExAC66921938326075
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me1, Histone, Histone 3 Lysine 9 mono-methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.5880.001
0.0040
(flanking)-0.3340
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased10880wt: 0.26 / mu: 0.96wt: AGAAAAACGAGCTAC
mu: AGAAAAACGAACTAC		 AAAA|acga
Donor marginally increased10877wt: 0.9340 / mu: 0.9578 (marginal change - not scored)wt: TCCAGAAAAACGAGC
mu: TCCAGAAAAACGAAC		 CAGA|aaaa
distance from splice site 14
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      14KGIRYETSRKTSYIFQQPQHGPWQ
mutated  all conserved    14KGIRYETSRKTNYIFQQPQHGPW
Ptroglodytes  all identical  ENSPTRG00000013338  14KGIRYETSRKTSYSFQQPQHGPW
Mmulatta  all identical  ENSMMUG00000011874  14KGIRYETSRKMSYIFQQPQHGPW
Fcatus  all identical  ENSFCAG00000006392  14RDISCETSRKMSCISQQLQHSPQ
Mmusculus  no alignment  ENSMUSG00000033068  n/a
Ggallus  no alignment  ENSGALG00000008563  n/a
Trubripes  no homologue    
Drerio  no alignment  ENSDARG00000008757  n/a
Dmelanogaster  no alignment  FBgn0024947  n/a
Celegans  no alignment  K08H10.4  n/a
Xtropicalis  no alignment  ENSXETG00000012776  n/a
protein features
start (aa)end (aa)featuredetails 
139TOPO_DOMCytoplasmic (Potential).lost
1919CONFLICTMissing (in Ref. 6; AAH25980).might get lost (downstream of altered splice site)
4060TRANSMEMHelical; Signal-anchor for type II membrane protein; (Potential).might get lost (downstream of altered splice site)
61484TOPO_DOMLumenal (Potential).might get lost (downstream of altered splice site)
220220CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
224224ACT_SITEProton acceptor (By similarity).might get lost (downstream of altered splice site)
238238MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
284284CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
325325DISULFIDIn soluble form.might get lost (downstream of altered splice site)
356356DISULFIDIn soluble form.might get lost (downstream of altered splice site)
416416DISULFIDIn soluble form.might get lost (downstream of altered splice site)
430430DISULFIDIn soluble form.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1455 / 1455
position (AA) of stopcodon in wt / mu AA sequence 485 / 485
position of stopcodon in wt / mu cDNA 1618 / 1618
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 164 / 164
chromosome 20
strand 1
last intron/exon boundary 1520
theoretical NMD boundary in CDS 1306
length of CDS 1455
coding sequence (CDS) position 41
cDNA position
(for ins/del: last normal base / first normal base)		 204
gDNA position
(for ins/del: last normal base / first normal base)		 10885
chromosomal position
(for ins/del: last normal base / first normal base)		 25187213
original gDNA sequence snippet TGAAACTTCCAGAAAAACGAGCTACATTTTTCAGGTTTGTC
altered gDNA sequence snippet TGAAACTTCCAGAAAAACGAACTACATTTTTCAGGTTTGTC
original cDNA sequence snippet TGAAACTTCCAGAAAAACGAGCTACATTTTTCAGCAGCCGC
altered cDNA sequence snippet TGAAACTTCCAGAAAAACGAACTACATTTTTCAGCAGCCGC
wildtype AA sequence MKKGIRYETS RKTSYIFQQP QHGPWQTRMR KISNHGSLRV AKVAYPLGLC VGVFIYVAYI
KWHRATATQA FFSITRAAPG ARWGQQAHSP LGTAADGHEV FYGIMFDAGS TGTRVHVFQF
TRPPRETPTL THETFKALKP GLSAYADDVE KSAQGIRELL DVAKQDIPFD FWKATPLVLK
ATAGLRLLPG EKAQKLLQKV KKVFKASPFL VGDDCVSIMN GTDEGVSAWI TINFLTGSLK
TPGGSSVGML DLGGGSTQIA FLPRVEGTLQ ASPPGYLTAL RMFNRTYKLY SYSYLGLGLM
SARLAILGGV EGQPAKDGKE LVSPCLSPSF KGEWEHAEVT YRVSGQKAAA SLHELCAARV
SEVLQNRVHR TEEVKHVDFY AFSYYYDLAA GVGLIDAEKG GSLVVGDFEI AAKYVCRTLE
TQPQSSPFSC MDLTYVSLLL QEFGFPRSKV LKLTRKIDNV ETSWALGAIF HYIDSLNRQK
SPAS*
mutated AA sequence MKKGIRYETS RKTNYIFQQP QHGPWQTRMR KISNHGSLRV AKVAYPLGLC VGVFIYVAYI
KWHRATATQA FFSITRAAPG ARWGQQAHSP LGTAADGHEV FYGIMFDAGS TGTRVHVFQF
TRPPRETPTL THETFKALKP GLSAYADDVE KSAQGIRELL DVAKQDIPFD FWKATPLVLK
ATAGLRLLPG EKAQKLLQKV KKVFKASPFL VGDDCVSIMN GTDEGVSAWI TINFLTGSLK
TPGGSSVGML DLGGGSTQIA FLPRVEGTLQ ASPPGYLTAL RMFNRTYKLY SYSYLGLGLM
SARLAILGGV EGQPAKDGKE LVSPCLSPSF KGEWEHAEVT YRVSGQKAAA SLHELCAARV
SEVLQNRVHR TEEVKHVDFY AFSYYYDLAA GVGLIDAEKG GSLVVGDFEI AAKYVCRTLE
TQPQSSPFSC MDLTYVSLLL QEFGFPRSKV LKLTRKIDNV ETSWALGAIF HYIDSLNRQK
SPAS*
speed 1.16 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