Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 0.999999877455141 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • 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 ENST00000354989
Genbank transcript ID NM_001114089
UniProt peptide O75354
alteration type single base exchange
alteration region intron
DNA changes g.10885G>A
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
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 499
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
139TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
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 N/A
AA sequence altered N/A
position of stopcodon in wt / mu CDS N/A
position (AA) of stopcodon in wt / mu AA sequence N/A
position of stopcodon in wt / mu cDNA N/A
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 173 / 173
chromosome 20
strand 1
last intron/exon boundary 1478
theoretical NMD boundary in CDS 1255
length of CDS 1404
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 N/A
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 N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MQPQHGPWQT RMRKISNHGS LRVAKVAYPL GLCVGVFIYV AYIKWHRATA TQAFFSITRA
APGARWGQQA HSPLGTAADG HEVFYGIMFD AGSTGTRVHV FQFTRPPRET PTLTHETFKA
LKPGLSAYAD DVEKSAQGIR ELLDVAKQDI PFDFWKATPL VLKATAGLRL LPGEKAQKLL
QKVKKVFKAS PFLVGDDCVS IMNGTDEGVS AWITINFLTG SLKTPGGSSV GMLDLGGGST
QIAFLPRVEG TLQASPPGYL TALRMFNRTY KLYSYSYLGL GLMSARLAIL GGVEGQPAKD
GKELVSPCLS PSFKGEWEHA EVTYRVSGQK AAASLHELCA ARVSEVLQNR VHRTEEVKHV
DFYAFSYYYD LAAGVGLIDA EKGGSLVVGD FEIAAKYVCR TLETQPQSSP FSCMDLTYVS
LLLQEFGFPR SKVLKLTRKI DNVETSWALG AIFHYIDSLN RQKSPAS*
mutated AA sequence N/A
speed 0.89 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