Yum, tasty mutations...

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999988113 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • splice site changes
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr17:72308319G>AN/A show variant in all transcripts   IGV
HGNC symbol DNAI2
Ensembl transcript ID ENST00000579490
Genbank transcript ID N/A
UniProt peptide Q9GZS0
alteration type single base exchange
alteration region CDS
DNA changes c.1843G>A
cDNA.1978G>A
g.37934G>A
AA changes A615T Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS
615
frameshift no
known variant Reference ID: rs1979370
databasehomozygous (A/A)heterozygousallele carriers
1000G14637842247
ExAC---
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.1520
-3.4710
(flanking)0.4140
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased37937wt: 0.52 / mu: 0.70wt: TCTTCGACATCATCTTCGCAGAGCTGAAGAAGAAGGAGGCA
mu: TCTTCGACATCATCTTCACAGAGCTGAAGAAGAAGGAGGCA
 gcag|AGCT
Acc marginally increased37935wt: 0.5100 / mu: 0.5198 (marginal change - not scored)wt: GTTCTTCGACATCATCTTCGCAGAGCTGAAGAAGAAGGAGG
mu: GTTCTTCGACATCATCTTCACAGAGCTGAAGAAGAAGGAGG
 tcgc|AGAG
Donor marginally increased37936wt: 0.4358 / mu: 0.4444 (marginal change - not scored)wt: TTCGCAGAGCTGAAG
mu: TTCACAGAGCTGAAG
 CGCA|gagc
Donor marginally increased37939wt: 0.9132 / mu: 0.9753 (marginal change - not scored)wt: GCAGAGCTGAAGAAG
mu: ACAGAGCTGAAGAAG
 AGAG|ctga
Donor increased37938wt: 0.55 / mu: 0.60wt: CGCAGAGCTGAAGAA
mu: CACAGAGCTGAAGAA
 CAGA|gctg
distance from splice site 51
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      615KAEEEFFDIIFAELKKKEADAIKL
mutated  not conserved    615KAEEEFFDIIFTELKKKEADAIK
Ptroglodytes  all identical  ENSPTRG00000009604  558KAEEEFFDIIFAELKKKEADAIK
Mmulatta  all identical  ENSMMUG00000020974  558RAEEEFFDIIFAELKKKEADAIK
Fcatus  all conserved  ENSFCAG00000004725  558KAEDEFFNIIYSELKKKETEAMK
Mmusculus  all conserved  ENSMUSG00000034706  558KAEEEFFEVIFSELKRKEAEALK
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000074081  561RAEKEFFHIIENERMKE
Dmelanogaster  not conserved  FBgn0036195  559QAASEYFAAVEQERQRR
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000012829  559NAEKDFFEIIEAELKRKEQQERK
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1989 / 1989
position (AA) of stopcodon in wt / mu AA sequence 663 / 663
position of stopcodon in wt / mu cDNA 2124 / 2124
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 136 / 136
chromosome 17
strand 1
last intron/exon boundary 2180
theoretical NMD boundary in CDS 1994
length of CDS 1989
coding sequence (CDS) position 1843
cDNA position
(for ins/del: last normal base / first normal base)
1978
gDNA position
(for ins/del: last normal base / first normal base)
37934
chromosomal position
(for ins/del: last normal base / first normal base)
72308319
original gDNA sequence snippet AGTTCTTCGACATCATCTTCGCAGAGCTGAAGAAGAAGGAG
altered gDNA sequence snippet AGTTCTTCGACATCATCTTCACAGAGCTGAAGAAGAAGGAG
original cDNA sequence snippet AGTTCTTCGACATCATCTTCGCAGAGCTGAAGAAGAAGGAG
altered cDNA sequence snippet AGTTCTTCGACATCATCTTCACAGAGCTGAAGAAGAAGGAG
wildtype AA sequence MRMQLLDKFL GSPHHPLLPA PTRLRTWSCP GRTCGDREGA GGVPHPTPSL CPPAAGTMEI
VYVYVKKRSE FGKQCNFSDR QAELNIDIMP NPELAEQFVE RNPVDTGIQC SISMSEHEAN
SERFEMETRG VNHVEGGWPK DVNPLELEQT IRFRKKVEKD ENYVNAIMQL GSIMEHCIKQ
NNAIDIYEEY FNDEEAMEVM EEDPSAKTIN VFRDPQEIKR AATHLSWHPD GNRKLAVAYS
CLDFQRAPVG MSSDSYIWDL ENPNKPELAL KPSSPLVTLE FNPKDSHVLL GGCYNGQIAC
WDTRKGSLVA ELSTIESSHR DPVYGTIWLQ SKTGTECFSA STDGQVMWWD IRKMSEPTEV
VILDITKKEQ LENALGAISL EFESTLPTKF MVGTEQGIVI SCNRKAKTSA EKIVCTFPGH
HGPIYALQRN PFYPKNFLTV GDWTARIWSE DSRESSIMWT KYHMAYLTDA AWSPVRPTVF
FTTRMDGTLD IWDFMFEQCD PTLSLKVCDE ALFCLRVQDN GCLIACGSQL GTTTLLEVSP
GLSTLQRNEK NVASSMFERE TRREKILEAR HREMRLKEKG KAEGRDEEQT DEELAVDLEA
LVSKAEEEFF DIIFAELKKK EADAIKLTPV PQQPSPEEDQ VVEEGEEAAG EEGDEEVEED
LA*
mutated AA sequence MRMQLLDKFL GSPHHPLLPA PTRLRTWSCP GRTCGDREGA GGVPHPTPSL CPPAAGTMEI
VYVYVKKRSE FGKQCNFSDR QAELNIDIMP NPELAEQFVE RNPVDTGIQC SISMSEHEAN
SERFEMETRG VNHVEGGWPK DVNPLELEQT IRFRKKVEKD ENYVNAIMQL GSIMEHCIKQ
NNAIDIYEEY FNDEEAMEVM EEDPSAKTIN VFRDPQEIKR AATHLSWHPD GNRKLAVAYS
CLDFQRAPVG MSSDSYIWDL ENPNKPELAL KPSSPLVTLE FNPKDSHVLL GGCYNGQIAC
WDTRKGSLVA ELSTIESSHR DPVYGTIWLQ SKTGTECFSA STDGQVMWWD IRKMSEPTEV
VILDITKKEQ LENALGAISL EFESTLPTKF MVGTEQGIVI SCNRKAKTSA EKIVCTFPGH
HGPIYALQRN PFYPKNFLTV GDWTARIWSE DSRESSIMWT KYHMAYLTDA AWSPVRPTVF
FTTRMDGTLD IWDFMFEQCD PTLSLKVCDE ALFCLRVQDN GCLIACGSQL GTTTLLEVSP
GLSTLQRNEK NVASSMFERE TRREKILEAR HREMRLKEKG KAEGRDEEQT DEELAVDLEA
LVSKAEEEFF DIIFTELKKK EADAIKLTPV PQQPSPEEDQ VVEEGEEAAG EEGDEEVEED
LA*
speed 1.15 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