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 ENST00000393498
Genbank transcript ID N/A
UniProt peptide O15409
alteration type single base exchange
alteration region CDS
DNA changes c.1589G>A
cDNA.1902G>A
g.575749G>A
AA changes R530H Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 530
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      530RRNAATWKNAVRHNLSLHKCFVRV
mutated  not conserved    530RRNAATWKNAVHHNLSLHKCFV
Ptroglodytes  all identical  ENSPTRG00000019608  554RRNAATWKNAVRHNLSLHKCFVR
Mmulatta  all identical  ENSMMUG00000008005  577RRNAATWKNAVRHNLSLHKCFVR
Fcatus  all identical  ENSFCAG00000006921  461RRNAATWKNAVRHNLSLHKCFV
Mmusculus  all identical  ENSMUSG00000029563  577RRNAATWKNAVRHNLSLHKCFVR
Ggallus  all identical  ENSGALG00000009424  467RRNAATWKNAVRHNLSLHKCFVR
Trubripes  all identical  ENSTRUG00000016830  577RRNAATWKNAVRHNLSLHKCFVR
Drerio  all identical  ENSDARG00000005453  519RRNAATWKNAVRHNLS
Dmelanogaster  all identical  FBgn0262477  377RRNAATWKNAIRTNLSLH
Celegans  all identical  F26D12.1  612RRNAATWKNAVRHNLSLHKCF
Xtropicalis  all identical  ENSXETG00000011560  527RRNAATWKNAVRHNLSLH
protein features
start (aa)end (aa)featuredetails 
504594DNA_BINDFork-head.lost
527541HELIXlost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2079 / 2079
position (AA) of stopcodon in wt / mu AA sequence 693 / 693
position of stopcodon in wt / mu cDNA 2392 / 2392
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 314 / 314
chromosome 7
strand 1
last intron/exon boundary 2248
theoretical NMD boundary in CDS 1884
length of CDS 2079
coding sequence (CDS) position 1589
cDNA position
(for ins/del: last normal base / first normal base)		 1902
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 KQRPLQVPVS VAMMTPQVIT PQQMQQILQQ QVLSPQQLQA
LLQQQQAVML QQQQQQQQQQ QQQQQQQQQQ QQQQQQQQQQ QQQQQQQQQH PGKQAKEQQQ
QQQQQQLAAQ QLVFQQQLLQ MQQLQQQQHL LSLQRQGLIS IPPGQAALPV QSLPQAGLSP
AEIQQLWKEV TGVHSMEDNG IKHGGLDLTT NNSSSTTSSN TSKASPPITH HSIVNGQSSV
LSARRDSSSH EETGASHTLY GHGVCKWPGC ESICEDFGQF LKHLNNEHAL DDRSTAQCRV
QMQVVQQLEI QLSKERERLQ AMMTHLHMRP SEPKPSPKPL NLVSSVTMSK NMLETSPQSL
PQTPTTPTAP VTPITQGPSV ITPASVPNVG AIRRRHSDKY NIPMSSEIAP NYEFYKNADV
RPPFTYATLI RQAIMESSDR QLTLNEIYSW FTRTFAYFRR NAATWKNAVR HNLSLHKCFV
RVENVKGAVW TVDEVEYQKR RSQKITGSPT LVKNIPTSLG YGAALNASLQ AALAESSLPL
LSNPGLINNA SSGLLQAVHE DLNGSLDHID SNGNSSPGCS PQPHIHSIHV KEEPVIAEDE
DCPMSLVTTA NHSPELEDDR EIEEEPLSED LE*
mutated AA sequence MMQESATETI SNSSMNQNGM STLSSQLDAG SRDGRSSGDT SSEVSTVELL HLQQQQALQA
ARQLLLQQQT SGLKSPKSSD KQRPLQVPVS VAMMTPQVIT PQQMQQILQQ QVLSPQQLQA
LLQQQQAVML QQQQQQQQQQ QQQQQQQQQQ QQQQQQQQQQ QQQQQQQQQH PGKQAKEQQQ
QQQQQQLAAQ QLVFQQQLLQ MQQLQQQQHL LSLQRQGLIS IPPGQAALPV QSLPQAGLSP
AEIQQLWKEV TGVHSMEDNG IKHGGLDLTT NNSSSTTSSN TSKASPPITH HSIVNGQSSV
LSARRDSSSH EETGASHTLY GHGVCKWPGC ESICEDFGQF LKHLNNEHAL DDRSTAQCRV
QMQVVQQLEI QLSKERERLQ AMMTHLHMRP SEPKPSPKPL NLVSSVTMSK NMLETSPQSL
PQTPTTPTAP VTPITQGPSV ITPASVPNVG AIRRRHSDKY NIPMSSEIAP NYEFYKNADV
RPPFTYATLI RQAIMESSDR QLTLNEIYSW FTRTFAYFRR NAATWKNAVH HNLSLHKCFV
RVENVKGAVW TVDEVEYQKR RSQKITGSPT LVKNIPTSLG YGAALNASLQ AALAESSLPL
LSNPGLINNA SSGLLQAVHE DLNGSLDHID SNGNSSPGCS PQPHIHSIHV KEEPVIAEDE
DCPMSLVTTA NHSPELEDDR EIEEEPLSED LE*
speed 0.72 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