Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999875534016 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM080395)
  • known disease mutation: rs6465 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr9:131303403T>CN/A show variant in all transcripts   IGV
HGNC symbol GLE1
Ensembl transcript ID ENST00000309971
Genbank transcript ID NM_001003722
UniProt peptide Q53GS7
alteration type single base exchange
alteration region CDS
DNA changes c.2051T>C
cDNA.2157T>C
g.36425T>C
AA changes I684T Score: 89 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 684
frameshift no
known variant Reference ID: rs121434409
databasehomozygous (C/C)heterozygousallele carriers
1000G---
ExAC044

known disease mutation: rs6465 (pathogenic for Lethal arthrogryposis with anterior horn cell disease) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM080395)

known disease mutation at this position, please check HGMD for details (HGMD ID CM080395)
known disease mutation at this position, please check HGMD for details (HGMD ID CM080395)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)2.0181
4.4261
(flanking)0.0760.996
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased36420wt: 0.63 / mu: 0.81wt: CACAAGGACATTCCT
mu: CACAAGGACACTCCT		 CAAG|gaca
distance from splice site 23
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      684QFLEKCLQHKDIPVPKGFLTSSFW
mutated  not conserved    684QFLEKCLQHKDTPVPKGFLTSSF
Ptroglodytes  all identical  ENSPTRG00000021431  683QFLEKCLQHKDIPVPKGFLTSSF
Mmulatta  all identical  ENSMMUG00000005989  684QFLEKCLQHKDIPVPKGFLTSSF
Fcatus  all identical  ENSFCAG00000005845  683QFLEKCLQRKEIPVPKGFLTSSF
Mmusculus  all identical  ENSMUSG00000019715  685QFLEKCLQRREIPVPRGFLTTSF
Ggallus  all identical  ENSGALG00000004738  683QFLEESLQKKDIPLPKGFLQPSF
Trubripes  all identical  ENSTRUG00000006713  695NFIEGALRSRTISPPKGQLSAGF
Drerio  all identical  ENSDARG00000043559  703QFLETSLRTKQIPAPKSELGSAF
Dmelanogaster  all identical  FBgn0033316  668MLLAKFLRERQIAQAVGVLPPGF
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
656698REGIONInteraction with NUPL2.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2097 / 2097
position (AA) of stopcodon in wt / mu AA sequence 699 / 699
position of stopcodon in wt / mu cDNA 2203 / 2203
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 107 / 107
chromosome 9
strand 1
last intron/exon boundary 2135
theoretical NMD boundary in CDS 1978
length of CDS 2097
coding sequence (CDS) position 2051
cDNA position
(for ins/del: last normal base / first normal base)		 2157
gDNA position
(for ins/del: last normal base / first normal base)		 36425
chromosomal position
(for ins/del: last normal base / first normal base)		 131303403
original gDNA sequence snippet ATGTTTGCAACACAAGGACATTCCTGTCCCCAAGGGCTTTC
altered gDNA sequence snippet ATGTTTGCAACACAAGGACACTCCTGTCCCCAAGGGCTTTC
original cDNA sequence snippet ATGTTTGCAACACAAGGACATTCCTGTCCCCAAGGGCTTTC
altered cDNA sequence snippet ATGTTTGCAACACAAGGACACTCCTGTCCCCAAGGGCTTTC
wildtype AA sequence MPSEGRCWET LKALRSSDKG RLCYYRDWLL RREDVLEECM SLPKLSSYSG WVVEHVLPHM
QENQPLSETS PSSTSASALD QPSFVPKSPD ASSAFSPASP ATPNGTKGKD ESQHTESMVL
QSSRGIKVEG CVRMYELVHR MKGTEGLRLW QEEQERKVQA LSEMASEQLK RFDEWKELKQ
HKEFQDLREV MEKSSREALG HQEKLKAEHR HRAKILNLKL REAEQQRVKQ AEQERLRKEE
GQIRLRALYA LQEEMLQLSQ QLDASEQHKA LLKVDLAAFQ TRGNQLCSLI SGIIRASSES
SYPTAESQAE AERALREMRD LLMNLGQEIT RACEDKRRQD EEEAQVKLQE AQMQQGPEAH
KEPPAPSQGP GGKQNEDLQV KVQDITMQWY QQLQDASMQC VLTFEGLTNS KDSQAKKIKM
DLQKAATIPV SQISTIAGSK LKEIFDKIHS LLSGKPVQSG GRSVSVTLNP QGLDFVQYKL
AEKFVKQGEE EVASHHEAAF PIAVVASGIW ELHPRVGDLI LAHLHKKCPY SVPFYPTFKE
GMALEDYQRM LGYQVKDSKV EQQDNFLKRM SGMIRLYAAI IQLRWPYGNR QEIHPHGLNH
GWRWLAQILN MEPLSDVTAT LLFDFLEVCG NALMKQYQVQ FWKMLILIKE DYFPRIEAIT
SSGQMGSFIR LKQFLEKCLQ HKDIPVPKGF LTSSFWRS*
mutated AA sequence MPSEGRCWET LKALRSSDKG RLCYYRDWLL RREDVLEECM SLPKLSSYSG WVVEHVLPHM
QENQPLSETS PSSTSASALD QPSFVPKSPD ASSAFSPASP ATPNGTKGKD ESQHTESMVL
QSSRGIKVEG CVRMYELVHR MKGTEGLRLW QEEQERKVQA LSEMASEQLK RFDEWKELKQ
HKEFQDLREV MEKSSREALG HQEKLKAEHR HRAKILNLKL REAEQQRVKQ AEQERLRKEE
GQIRLRALYA LQEEMLQLSQ QLDASEQHKA LLKVDLAAFQ TRGNQLCSLI SGIIRASSES
SYPTAESQAE AERALREMRD LLMNLGQEIT RACEDKRRQD EEEAQVKLQE AQMQQGPEAH
KEPPAPSQGP GGKQNEDLQV KVQDITMQWY QQLQDASMQC VLTFEGLTNS KDSQAKKIKM
DLQKAATIPV SQISTIAGSK LKEIFDKIHS LLSGKPVQSG GRSVSVTLNP QGLDFVQYKL
AEKFVKQGEE EVASHHEAAF PIAVVASGIW ELHPRVGDLI LAHLHKKCPY SVPFYPTFKE
GMALEDYQRM LGYQVKDSKV EQQDNFLKRM SGMIRLYAAI IQLRWPYGNR QEIHPHGLNH
GWRWLAQILN MEPLSDVTAT LLFDFLEVCG NALMKQYQVQ FWKMLILIKE DYFPRIEAIT
SSGQMGSFIR LKQFLEKCLQ HKDTPVPKGF LTSSFWRS*
speed 1.31 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