Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.99826573701328 (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) chr2:48807796A>CN/A show variant in all transcripts   IGV
HGNC symbol STON1-GTF2A1L
Ensembl transcript ID ENST00000394754
Genbank transcript ID NM_172311
UniProt peptide N/A
alteration type single base exchange
alteration region CDS
DNA changes c.24A>C
cDNA.138A>C
g.50733A>C
AA changes K8N Score: 94 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 8
frameshift no
known variant Reference ID: rs17039250
databasehomozygous (C/C)heterozygousallele carriers
1000G29710781375
ExAC65461967526221
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.9041
0.7251
(flanking)4.4581
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 increased50731wt: 0.3125 / mu: 0.3144 (marginal change - not scored)wt: CAGGCAAATGGGTCA
mu: CAGGCAACTGGGTCA		 GGCA|aatg
distance from splice site 71
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      8 MCSTNPGKWVTFDDDPAVQS
mutated  not conserved    8 MCSTNPGNWVTFDDDPAVQSSQ
Ptroglodytes  no homologue    
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  no homologue    
Ggallus  not conserved  ENSGALG00000009092  8 MCSTNPANWVTFDDEPLFQSPQ
Trubripes  not conserved  ENSTRUG00000013959  8 MCSTNHSNWVTFEDDNTPFSSPQ
Drerio  no alignment  ENSDARG00000063670  n/a
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000022658  8 MFSAKPESWVTFDDENLFQPGQ
protein features N/A
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3549 / 3549
position (AA) of stopcodon in wt / mu AA sequence 1183 / 1183
position of stopcodon in wt / mu cDNA 3663 / 3663
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 115 / 115
chromosome 2
strand 1
last intron/exon boundary 3556
theoretical NMD boundary in CDS 3391
length of CDS 3549
coding sequence (CDS) position 24
cDNA position
(for ins/del: last normal base / first normal base)		 138
gDNA position
(for ins/del: last normal base / first normal base)		 50733
chromosomal position
(for ins/del: last normal base / first normal base)		 48807796
original gDNA sequence snippet TGCTCCACAAATCCAGGCAAATGGGTCACCTTTGATGATGA
altered gDNA sequence snippet TGCTCCACAAATCCAGGCAACTGGGTCACCTTTGATGATGA
original cDNA sequence snippet TGCTCCACAAATCCAGGCAAATGGGTCACCTTTGATGATGA
altered cDNA sequence snippet TGCTCCACAAATCCAGGCAACTGGGTCACCTTTGATGATGA
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
IVCQYDKIHR SKNKWKFYLK DGVMCFGGRD YVFAKAIGDA EW*
mutated AA sequence MCSTNPGNWV 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
IVCQYDKIHR SKNKWKFYLK DGVMCFGGRD YVFAKAIGDA EW*
speed 0.46 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