Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 0.999999531837482 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • homozygous in TGP or ExAC
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analysed issue analysis result
name of alteration no title
alteration (phys. location) chr3:97365038G>AN/A show variant in all transcripts   IGV
HGNC symbol EPHA6
Ensembl transcript ID ENST00000502694
Genbank transcript ID NM_173655
UniProt peptide N/A
alteration type single base exchange
alteration region intron
DNA changes g.831614G>A
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs301948
databasehomozygous (A/A)heterozygousallele carriers
1000G---
ExAC236328715234
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)0.1180
0.0220.001
(flanking)1.7070.002
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased831615wt: 0.9262 / mu: 0.9697 (marginal change - not scored)wt: GTGCGAGTCCAGCTC
mu: GTGCAAGTCCAGCTC		 GCGA|gtcc
Donor marginally increased831610wt: 0.9416 / mu: 0.9872 (marginal change - not scored)wt: GAGCAGTGCGAGTCC
mu: GAGCAGTGCAAGTCC		 GCAG|tgcg
Donor marginally increased831606wt: 0.8666 / mu: 0.9101 (marginal change - not scored)wt: GTGTGAGCAGTGCGA
mu: GTGTGAGCAGTGCAA		 GTGA|gcag
distance from splice site 2092
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features N/A
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 331 / 331
chromosome 3
strand 1
last intron/exon boundary 1291
theoretical NMD boundary in CDS 910
length of CDS 1005
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)		 831614
chromosomal position
(for ins/del: last normal base / first normal base)		 97365038
original gDNA sequence snippet AAAGCTTGTGTGAGCAGTGCGAGTCCAGCTCTGGTTATGGT
altered gDNA sequence snippet AAAGCTTGTGTGAGCAGTGCAAGTCCAGCTCTGGTTATGGT
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MKDSPFQVTK LYWLNEKWDF IASASDMAAE QGQILVIATA AVGGFTLLVI LTLFFLITGR
CQWYIKAKMK SEEKRRNHLQ NGHLRFPGIK TYIDPDTYED PSLAVHEFAK EIDPSRIRIE
RVIGAGEFGE VCSGRLKTPG KREIPVAIKT LKGGHMDRQR RDFLREASIM GQFDHPNIIR
LEGVVTKRSF PAIGVEAFCP SFLRAGFLNS IQAPHPVPGG GSLPPRIPAG RPVMIVVEYM
ENGSLDSFLR KHDGHFTVIQ LVGMLRGIAS GMKYLSDMGY VHRDLAARNI LVNSNLVCKV
SDFGLSRVLE DDPEAAYTTT DLFQTLTLNL CYSA*
mutated AA sequence N/A
speed 0.87 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