Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999922333 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr2:48809593G>TN/A show variant in all transcripts   IGV
HGNC symbol STON1-GTF2A1L
Ensembl transcript ID ENST00000402114
Genbank transcript ID NM_001198593
UniProt peptide N/A
alteration type single base exchange
alteration region CDS
DNA changes c.1821G>T
cDNA.1932G>T
g.52530G>T
AA changes Q607H Score: 24 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 607
frameshift no
known variant Reference ID: rs3792234
databasehomozygous (T/T)heterozygousallele carriers
1000G41911471566
ExAC13975481718792
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)2.6130.278
-1.9440.008
(flanking)2.4840.273
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased52533wt: 0.2059 / mu: 0.2273 (marginal change - not scored)wt: CAGGAACTTGAATCT
mu: CATGAACTTGAATCT		 GGAA|cttg
distance from splice site 110
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      607KMNRRACLGSLQELESEPVIQVTV
mutated  not conserved    607ACLGSLHELESEPVIQVT
Ptroglodytes  no homologue    
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  no homologue    
Ggallus  not conserved  ENSGALG00000009092  604KMNRRTCLGSLHEIESDPVIQVS
Trubripes  not conserved  ENSTRUG00000013959  571RMNRSMNRNACLGAVSASDSQPVMQVS
Drerio  not conserved  ENSDARG00000063670  362RIHRNTCLGSALEAEAQSVTHAS
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000022658  587NKRTCLGSAYEIESEPVIQVT
protein features N/A
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3477 / 3477
position (AA) of stopcodon in wt / mu AA sequence 1159 / 1159
position of stopcodon in wt / mu cDNA 3588 / 3588
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 112 / 112
chromosome 2
strand 1
last intron/exon boundary 3553
theoretical NMD boundary in CDS 3391
length of CDS 3477
coding sequence (CDS) position 1821
cDNA position
(for ins/del: last normal base / first normal base)		 1932
gDNA position
(for ins/del: last normal base / first normal base)		 52530
chromosomal position
(for ins/del: last normal base / first normal base)		 48809593
original gDNA sequence snippet GCATGTCTGGGGAGTTTACAGGAACTTGAATCTGAACCTGT
altered gDNA sequence snippet GCATGTCTGGGGAGTTTACATGAACTTGAATCTGAACCTGT
original cDNA sequence snippet GCATGTCTGGGGAGTTTACAGGAACTTGAATCTGAACCTGT
altered cDNA sequence snippet GCATGTCTGGGGAGTTTACATGAACTTGAATCTGAACCTGT
wildtype AA sequence MCSTNPGKWV TFDDDPAVQS SQKSKNFPLE NQGVCRPNGL KLNLPGLREF PSGSSSTSST
PLSSPIVDFY FSPGPPSNSP LSTPTKDFPG FPGIPKAGTH VLYPIPESSS DSPLAISGGE
SSLLPTRPTC LSHALLPSDH SCTHPTPKVG LPDEVNPQQA ESLGFQSDDL PQFQYFREDC
AFSSPFWKDE GSDSHFTLDP PGSKKMFSSR NKEMPIDQKS LNKCSLNYIC EKLEHLQSAE
NQDSLRSLSM HCLCAEENAS SFVPHTLFRS QPKSGWSFML RIPEKKNMMS SRQWGPIFLK
VLPGGILQMY YEQGLEKPFK EIQLDPYCRL SEPKVENFSV AGKIHTVKIE HVSYTEKRKY
HSKTEVVHEP DIEQMLKLGS TSYHDFLDFL TTVEEELMKL PAVSKPKKNY EEQEISLEIV
DNFWGKVTKE GKFVESAVIT QIYCLCFVNG NLECFLTLND LELPKRDESY YEKDSEKKGI
DILDYHFHKC VNVQEFEQSR IIKFVPLDAC RFELMRFKTL YNGDNLPFSL KSVVVVQGAY
VELQAFVNMA SLAQRSSYAG SLRSCDNIRI HFPVPSQWIK ALWTMNLQRQ KSLKAKMNRR
ACLGSLQELE SEPVIQVTVG SAKYESAYQA VVWKIDRLPD KNSSLDHPHC LSYKLELGSD
QEIPSDWYPF ATVQFSVPDT CASRTEVRSL GVESDVQPQK HVQQRACYNI QPKLYRSVIE
DVIEGVRNLF AEEGIEEQVL KDLKQLWETK VLQSKATEDF FRNSIQSPLF TLQLPHSLHQ
TLQSSTASLV IPAGRTLPSF TTAELGTSNS SANFTFPGYP IHVPAGVTLQ TVSGHLYKVN
VPIMVTETSG RAGILQHPIQ QVFQQLGQPS VIQTSVPQLN PWSLQATTEK SQRIETVLQQ
PAILPSGPVD RKHLENATSD ILVSPGNEHK IVPEALLCHQ ESSHYISLPG VVFSPQVSQT
NSNVESVLSG SASMAQNLHD ESLSTSPHGA LHQHVTDIQL HILKNRMYGC DSVKQPRNIE
EPSNIPVSEK DSNSQVDLSI RVTDDDIGEI IQVDGSGDTS SNEEIGSTRD ADENEFLGNI
DGGDLKVPEE EADSISNEDS ATNSSDNEDP QVNIVEEDPL NSGDDVSEQD VPDLFDTDNV
IVCQYDKQGD TRVRHGQQ*
mutated AA sequence MCSTNPGKWV TFDDDPAVQS SQKSKNFPLE NQGVCRPNGL KLNLPGLREF PSGSSSTSST
PLSSPIVDFY FSPGPPSNSP LSTPTKDFPG FPGIPKAGTH VLYPIPESSS DSPLAISGGE
SSLLPTRPTC LSHALLPSDH SCTHPTPKVG LPDEVNPQQA ESLGFQSDDL PQFQYFREDC
AFSSPFWKDE GSDSHFTLDP PGSKKMFSSR NKEMPIDQKS LNKCSLNYIC EKLEHLQSAE
NQDSLRSLSM HCLCAEENAS SFVPHTLFRS QPKSGWSFML RIPEKKNMMS SRQWGPIFLK
VLPGGILQMY YEQGLEKPFK EIQLDPYCRL SEPKVENFSV AGKIHTVKIE HVSYTEKRKY
HSKTEVVHEP DIEQMLKLGS TSYHDFLDFL TTVEEELMKL PAVSKPKKNY EEQEISLEIV
DNFWGKVTKE GKFVESAVIT QIYCLCFVNG NLECFLTLND LELPKRDESY YEKDSEKKGI
DILDYHFHKC VNVQEFEQSR IIKFVPLDAC RFELMRFKTL YNGDNLPFSL KSVVVVQGAY
VELQAFVNMA SLAQRSSYAG SLRSCDNIRI HFPVPSQWIK ALWTMNLQRQ KSLKAKMNRR
ACLGSLHELE SEPVIQVTVG SAKYESAYQA VVWKIDRLPD KNSSLDHPHC LSYKLELGSD
QEIPSDWYPF ATVQFSVPDT CASRTEVRSL GVESDVQPQK HVQQRACYNI QPKLYRSVIE
DVIEGVRNLF AEEGIEEQVL KDLKQLWETK VLQSKATEDF FRNSIQSPLF TLQLPHSLHQ
TLQSSTASLV IPAGRTLPSF TTAELGTSNS SANFTFPGYP IHVPAGVTLQ TVSGHLYKVN
VPIMVTETSG RAGILQHPIQ QVFQQLGQPS VIQTSVPQLN PWSLQATTEK SQRIETVLQQ
PAILPSGPVD RKHLENATSD ILVSPGNEHK IVPEALLCHQ ESSHYISLPG VVFSPQVSQT
NSNVESVLSG SASMAQNLHD ESLSTSPHGA LHQHVTDIQL HILKNRMYGC DSVKQPRNIE
EPSNIPVSEK DSNSQVDLSI RVTDDDIGEI IQVDGSGDTS SNEEIGSTRD ADENEFLGNI
DGGDLKVPEE EADSISNEDS ATNSSDNEDP QVNIVEEDPL NSGDDVSEQD VPDLFDTDNV
IVCQYDKQGD TRVRHGQQ*
speed 1.24 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