Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999999999995 (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)
  • protein features (might be) affected
 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 ENST00000408937
Genbank transcript ID NM_001172766
UniProt peptide O15409
alteration type single base exchange
alteration region CDS
DNA changes c.1733G>A
cDNA.2107G>A
g.575749G>A
AA changes R578H Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 578
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      578RRNAATWKNAVRHNLSLHKCFVRV
mutated  not conserved    578RRNAATWKNAVHHNLSLHKCFVR
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  577VRHNLSLHKCFVR
Drerio  all identical  ENSDARG00000005453  519RRNAATWKNAVRHNLSLHKCFVR
Dmelanogaster  all identical  FBgn0262477  377RRNAATWKNAIRTNLSLH
Celegans  all identical  F26D12.1  612RRNAATWKNAVRHNLSLHKCF
Xtropicalis  all identical  ENSXETG00000011560  527RRNAATWKNAVRHNLSLHKCFVR
protein features
start (aa)end (aa)featuredetails 
504594DNA_BINDFork-head.lost
577583HELIXlost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2223 / 2223
position (AA) of stopcodon in wt / mu AA sequence 741 / 741
position of stopcodon in wt / mu cDNA 2597 / 2597
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 375 / 375
chromosome 7
strand 1
last intron/exon boundary 2453
theoretical NMD boundary in CDS 2028
length of CDS 2223
coding sequence (CDS) position 1733
cDNA position
(for ins/del: last normal base / first normal base)		 2107
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 MMQESATETI SNSSMNQNGM STLSSQLDAG SRDGRSSGDT SSEVSTVELL HLQQQQALQA
ARQLLLQQQT SGLKSPKSSD KQRPLQELLP ETKLCICGHS SGDGHPHNTF AVPVSVAMMT
PQVITPQQMQ QILQQQVLSP QQLQALLQQQ QAVMLQQQQL 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 PKPSPKPLNL VSSVTMSKNM LETSPQSLPQ TPTTPTAPVT
PITQGPSVIT PASVPNVGAI RRRHSDKYNI PMSSEIAPNY EFYKNADVRP PFTYATLIRQ
AIMESSDRQL TLNEIYSWFT RTFAYFRRNA ATWKNAVRHN LSLHKCFVRV ENVKGAVWTV
DEVEYQKRRS QKITGSPTLV KNIPTSLGYG AALNASLQAA LAESSLPLLS NPGLINNASS
GLLQAVHEDL NGSLDHIDSN GNSSPGCSPQ PHIHSIHVKE EPVIAEDEDC PMSLVTTANH
SPELEDDREI EEEPLSEDLE *
mutated AA sequence MMQESATETI SNSSMNQNGM STLSSQLDAG SRDGRSSGDT SSEVSTVELL HLQQQQALQA
ARQLLLQQQT SGLKSPKSSD KQRPLQELLP ETKLCICGHS SGDGHPHNTF AVPVSVAMMT
PQVITPQQMQ QILQQQVLSP QQLQALLQQQ QAVMLQQQQL 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 PKPSPKPLNL VSSVTMSKNM LETSPQSLPQ TPTTPTAPVT
PITQGPSVIT PASVPNVGAI RRRHSDKYNI PMSSEIAPNY EFYKNADVRP PFTYATLIRQ
AIMESSDRQL TLNEIYSWFT RTFAYFRRNA ATWKNAVHHN LSLHKCFVRV ENVKGAVWTV
DEVEYQKRRS QKITGSPTLV KNIPTSLGYG AALNASLQAA LAESSLPLLS NPGLINNASS
GLLQAVHEDL NGSLDHIDSN GNSSPGCSPQ PHIHSIHVKE EPVIAEDEDC PMSLVTTANH
SPELEDDREI EEEPLSEDLE *
speed 0.99 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