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
hyperlink
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 ENST00000389672
Genbank transcript ID NM_001080448
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 8112
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 39 / 39
chromosome 3
strand 1
last intron/exon boundary 3317
theoretical NMD boundary in CDS 3228
length of CDS 3393
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 MQFPSPPAAR SSPAPQAASS SEAAAPATGQ PGPSCPVPGT SRRGRPGTPP AGRVEEEEEE
EEEDVDKDPH PTQNTCLRCR HFSLRERKRE PRRTMGGCEV REFLLQFGFF LPLLTAWPGD
CSHVSNNQVV LLDTTTVLGE LGWKTYPLNG WDAITEMDEH NRPIHTYQVC NVMEPNQNNW
LRTNWISRDA AQKIYVEMKF TLRDCNSIPW VLGTCKETFN LFYMESDESH GIKFKPNQYT
KIDTIAADES FTQMDLGDRI LKLNTEIREV GPIERKGFYL AFQDIGACIA LVSVRVFYKK
CPFTVRNLAM FPDTIPRVDS SSLVEVRGSC VKSAEERDTP KLYCGADGDW LVPLGRCICS
TGYEEIEGSC HACRPGFYKA FAGNTKCSKC PPHSLTYMEA TSVCQCEKGY FRAEKDPPSM
ACTRPPSAPR NVVFNINETA LILEWSPPSD TGGRKDLTYS VICKKCGLDT SQCEDCGGGL
RFIPRHTGLI NNSVIVLDFV SHVNYTFEIE AMNGVSELSF SPKPFTAITV TTDQDAPSLI
GVVRKDWASQ NSIALSWQAP AFSNGAILDY EIKYYEKEHE QLTYSSTRSK APSVIITGLK
PATKYVFHIR VRTATGYSGY SQKFEFETGD ETSDMAAEQG QILVIATAAV GGFTLLVILT
LFFLITGRCQ WYIKAKMKSE EKRRNHLQNG HLRFPGIKTY IDPDTYEDPS LAVHEFAKEI
DPSRIRIERV IGAGEFGEVC SGRLKTPGKR EIPVAIKTLK GGHMDRQRRD FLREASIMGQ
FDHPNIIRLE GVVTKRSFPA IGVEAFCPSF LRAGFLNSIQ APHPVPGGGS LPPRIPAGRP
VMIVVEYMEN GSLDSFLRKH DGHFTVIQLV GMLRGIASGM KYLSDMGYVH RDLAARNILV
NSNLVCKVSD FGLSRVLEDD PEAAYTTTGG KIPIRWTAPE AIAYRKFSSA SDAWSYGIVM
WEVMSYGERP YWEMSNQDVI LSIEEGYRLP APMGCPASLH QLMLHCWQKE RNHRPKFTDI
VSFLDKLIRN PSALHTLVED ILVMPESPGE VPEYPLFVTV GDWLDSIKMG QYKNNFVAAG
FTTFDLISRM SIDDIRRIGV ILIGHQRRIV SSIQTLRLHM MHIQEKGFHV *
mutated AA sequence N/A
speed 0.60 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