Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: without_aae, prob: 1 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • known disease mutation at this position (HGMD CM012948)
  • known disease mutation: rs5067 (pathogenic)
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr7:114302130G>AN/A show variant in all transcripts   IGV
HGNC symbol FOXP2
Ensembl transcript ID ENST00000393500
Genbank transcript ID N/A
UniProt peptide N/A
alteration type single base exchange
alteration region 3'UTR
DNA changes cDNA.2408G>A
g.575749G>A
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs121908377
Allele 'A' was neither found in ExAC nor 1000G.
known disease mutation: rs5067 (pathogenic for Speech-language disorder 1) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM012948)

known disease mutation at this position, please check HGMD for details (HGMD ID CM012948)
known disease mutation at this position, please check HGMD for details (HGMD ID CM012948)
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)6.1581
6.1581
(flanking)0.8481
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 11
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 signal is predicted to be ok
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 821 / 821
chromosome 7
strand 1
last intron/exon boundary 2590
theoretical NMD boundary in CDS 1719
length of CDS 1149
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 2408
gDNA position
(for ins/del: last normal base / first normal base)		 575749
chromosomal position
(for ins/del: last normal base / first normal base)		 114302130
original gDNA sequence snippet TCTGCTTTAGAATGCAGTACGTCATAATCTTAGCCTGCACA
altered gDNA sequence snippet TCTGCTTTAGAATGCAGTACATCATAATCTTAGCCTGCACA
original cDNA sequence snippet AACTTGGAAGAATGCAGTACGTCATAATCTTAGCCTGCACA
altered cDNA sequence snippet AACTTGGAAGAATGCAGTACATCATAATCTTAGCCTGCACA
wildtype AA sequence MMTPQVITPQ QMQQILQQQV LSPQQLQALL QQQQAVMLQQ DFLDSGLENF RAALEKNQQL
QEFYKKQQEQ LHLQLLQQQQ QQQQQQQQQQ QQQQQQQQQQ QQQQQQQQQQ QQQQQQHPGK
QAKEQQQQQQ QQQQLAAQQL VFQQQLLQMQ QLQQQQHLLS LQRQGLISIP PGQAALPVQS
LPQAGLSPAE IQQLWKEVTG VHSMEDNGIK HGGLDLTTNN SSSTTSSNTS KASPPITHHS
IVNGQSSVLS ARRDSSSHEE TGASHTLYGH GVCKWPGCES ICEDFGQFLK HLNNEHALDD
RSTAQCRVQM QVVQQLEIQL SKERERLQAM MTHLHMRPSE PKPSPKPNIC KVTYRCIWMF
LRFSNYAEVL LYIPEKLTPV AL*
mutated AA sequence N/A
speed 0.94 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