Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.99999999999956 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • 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 ENST00000393489
Genbank transcript ID N/A
UniProt peptide O15409
alteration type single base exchange
alteration region CDS
DNA changes c.1382G>A
cDNA.1764G>A
g.575749G>A
AA changes R461H Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 461
frameshift no
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
speciesmatchgeneaaalignment
Human      461RRNAATWKNAVRHNLSLHKCFVRV
mutated  not conserved    461RRNAATWKNAVHHNLSLHKCFVR
Ptroglodytes  all identical  ENSPTRG00000019608  554RRNAATWKNAVRHNLSLHKCFVR
Mmulatta  all identical  ENSMMUG00000008005  577RRNAATWKNAVRHNLSLHKCFVR
Fcatus  all identical  ENSFCAG00000006921  461RRNAATWKNAVRHNLSLHKCFVR
Mmusculus  all identical  ENSMUSG00000029563  577RRNAATWKNAVRHNLSLHKCFVR
Ggallus  all identical  ENSGALG00000009424  467RRNAATWKNAVRHNLSLHKCFVR
Trubripes  all identical  ENSTRUG00000016830  577AVRHNLSLHKCFVR
Drerio  all identical  ENSDARG00000005453  519RRNAATWKNAVRHNLSLHKCFVR
Dmelanogaster  all identical  FBgn0262477  377RRNAATWKNAIRTNLSLH
Celegans  all identical  F26D12.1  612RRNAATWKNAVRHNLSLHKCF
Xtropicalis  all identical  ENSXETG00000011560  527RRNAATWKNAVRHNLSLHKCFVR
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1872 / 1872
position (AA) of stopcodon in wt / mu AA sequence 624 / 624
position of stopcodon in wt / mu cDNA 2254 / 2254
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 383 / 383
chromosome 7
strand 1
last intron/exon boundary 2110
theoretical NMD boundary in CDS 1677
length of CDS 1872
coding sequence (CDS) position 1382
cDNA position
(for ins/del: last normal base / first normal base)		 1764
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 QQLQEFYKKQ QEQLHLQLLQ
QQQQQQQQQQ QQQQQQQQQQ QQQQQQQQQQ QQQQQQQQQH PGKQAKEQQQ QQQQQQQLAA
QQLVFQQQLL QMQQLQQQQH LLSLQRQGLI SIPPGQAALP VQSLPQAGLS PAEIQQLWKE
VTGVHSMEDN GIKHGGLDLT TNNSSSTTSS NTSKASPPIT HHSIVNGQSS VLSARRDSSS
HEETGASHTL YGHGVCKWPG CESICEDFGQ FLKHLNNEHA LDDRSTAQCR VQMQVVQQLE
IQLSKERERL QAMMTHLHMR PSEPKPSPKP LNLVSSVTMS KNMLETSPQS LPQTPTTPTA
PVTPITQGPS VITPASVPNV GAIRRRHSDK YNIPMSSEIA PNYEFYKNAD VRPPFTYATL
IRQAIMESSD RQLTLNEIYS WFTRTFAYFR RNAATWKNAV RHNLSLHKCF VRVENVKGAV
WTVDEVEYQK RRSQKITGSP TLVKNIPTSL GYGAALNASL QAALAESSLP LLSNPGLINN
ASSGLLQAVH EDLNGSLDHI DSNGNSSPGC SPQPHIHSIH VKEEPVIAED EDCPMSLVTT
ANHSPELEDD REIEEEPLSE DLE*
mutated AA sequence MMTPQVITPQ QMQQILQQQV LSPQQLQALL QQQQAVMLQQ QQLQEFYKKQ QEQLHLQLLQ
QQQQQQQQQQ QQQQQQQQQQ QQQQQQQQQQ QQQQQQQQQH PGKQAKEQQQ QQQQQQQLAA
QQLVFQQQLL QMQQLQQQQH LLSLQRQGLI SIPPGQAALP VQSLPQAGLS PAEIQQLWKE
VTGVHSMEDN GIKHGGLDLT TNNSSSTTSS NTSKASPPIT HHSIVNGQSS VLSARRDSSS
HEETGASHTL YGHGVCKWPG CESICEDFGQ FLKHLNNEHA LDDRSTAQCR VQMQVVQQLE
IQLSKERERL QAMMTHLHMR PSEPKPSPKP LNLVSSVTMS KNMLETSPQS LPQTPTTPTA
PVTPITQGPS VITPASVPNV GAIRRRHSDK YNIPMSSEIA PNYEFYKNAD VRPPFTYATL
IRQAIMESSD RQLTLNEIYS WFTRTFAYFR RNAATWKNAV HHNLSLHKCF VRVENVKGAV
WTVDEVEYQK RRSQKITGSP TLVKNIPTSL GYGAALNASL QAALAESSLP LLSNPGLINN
ASSGLLQAVH EDLNGSLDHI DSNGNSSPGC SPQPHIHSIH VKEEPVIAED EDCPMSLVTT
ANHSPELEDD REIEEEPLSE DLE*
speed 0.58 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