Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999983869 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
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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
Ensembl transcript ID ENST00000406226
Genbank transcript ID NM_001198595
UniProt peptide Q9Y6Q2
alteration type single base exchange
alteration region CDS
DNA changes c.1821G>T
cDNA.2016G>T
g.53072G>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 increased53075wt: 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  not conserved  ENSPTRG00000011911  607ACLGSLHELESEPVIQVT
Mmulatta  no alignment  ENSMMUG00000030838  n/a
Fcatus  no homologue    
Mmusculus  no alignment  ENSMUSG00000024154  n/a
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
start (aa)end (aa)featuredetails 
409712DOMAINMHD.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2208 / 2208
position (AA) of stopcodon in wt / mu AA sequence 736 / 736
position of stopcodon in wt / mu cDNA 2403 / 2403
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 196 / 196
chromosome 2
strand 1
last intron/exon boundary 2329
theoretical NMD boundary in CDS 2083
length of CDS 2208
coding sequence (CDS) position 1821
cDNA position
(for ins/del: last normal base / first normal base)		 2016
gDNA position
(for ins/del: last normal base / first normal base)		 53072
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 QVEIEKKWIK
IDGEDPDKIG DCITQ*
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 QVEIEKKWIK
IDGEDPDKIG DCITQ*
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