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
  • protein features (might be) affected
  • 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 ENST00000311014
Genbank transcript ID NM_023036
UniProt peptide Q9GZS0
alteration type single base exchange
alteration region CDS
DNA changes c.1672G>A
cDNA.1739G>A
g.37934G>A
AA changes A558T Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 558
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      558KAEEEFFDIIFAELKKKEADAIKL
mutated  not conserved    558KAEEEFFDIIFTELKKKEADAIK
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
start (aa)end (aa)featuredetails 
593593CONFLICTG -> E (in Ref. 2; CAC17464).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1818 / 1818
position (AA) of stopcodon in wt / mu AA sequence 606 / 606
position of stopcodon in wt / mu cDNA 1885 / 1885
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 68 / 68
chromosome 17
strand 1
last intron/exon boundary 1941
theoretical NMD boundary in CDS 1823
length of CDS 1818
coding sequence (CDS) position 1672
cDNA position
(for ins/del: last normal base / first normal base)		 1739
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 MEIVYVYVKK RSEFGKQCNF SDRQAELNID IMPNPELAEQ FVERNPVDTG IQCSISMSEH
EANSERFEME TRGVNHVEGG WPKDVNPLEL EQTIRFRKKV EKDENYVNAI MQLGSIMEHC
IKQNNAIDIY EEYFNDEEAM EVMEEDPSAK TINVFRDPQE IKRAATHLSW HPDGNRKLAV
AYSCLDFQRA PVGMSSDSYI WDLENPNKPE LALKPSSPLV TLEFNPKDSH VLLGGCYNGQ
IACWDTRKGS LVAELSTIES SHRDPVYGTI WLQSKTGTEC FSASTDGQVM WWDIRKMSEP
TEVVILDITK KEQLENALGA ISLEFESTLP TKFMVGTEQG IVISCNRKAK TSAEKIVCTF
PGHHGPIYAL QRNPFYPKNF LTVGDWTARI WSEDSRESSI MWTKYHMAYL TDAAWSPVRP
TVFFTTRMDG TLDIWDFMFE QCDPTLSLKV CDEALFCLRV QDNGCLIACG SQLGTTTLLE
VSPGLSTLQR NEKNVASSMF ERETRREKIL EARHREMRLK EKGKAEGRDE EQTDEELAVD
LEALVSKAEE EFFDIIFAEL KKKEADAIKL TPVPQQPSPE EDQVVEEGEE AAGEEGDEEV
EEDLA*
mutated AA sequence MEIVYVYVKK RSEFGKQCNF SDRQAELNID IMPNPELAEQ FVERNPVDTG IQCSISMSEH
EANSERFEME TRGVNHVEGG WPKDVNPLEL EQTIRFRKKV EKDENYVNAI MQLGSIMEHC
IKQNNAIDIY EEYFNDEEAM EVMEEDPSAK TINVFRDPQE IKRAATHLSW HPDGNRKLAV
AYSCLDFQRA PVGMSSDSYI WDLENPNKPE LALKPSSPLV TLEFNPKDSH VLLGGCYNGQ
IACWDTRKGS LVAELSTIES SHRDPVYGTI WLQSKTGTEC FSASTDGQVM WWDIRKMSEP
TEVVILDITK KEQLENALGA ISLEFESTLP TKFMVGTEQG IVISCNRKAK TSAEKIVCTF
PGHHGPIYAL QRNPFYPKNF LTVGDWTARI WSEDSRESSI MWTKYHMAYL TDAAWSPVRP
TVFFTTRMDG TLDIWDFMFE QCDPTLSLKV CDEALFCLRV QDNGCLIACG SQLGTTTLLE
VSPGLSTLQR NEKNVASSMF ERETRREKIL EARHREMRLK EKGKAEGRDE EQTDEELAVD
LEALVSKAEE EFFDIIFTEL KKKEADAIKL TPVPQQPSPE EDQVVEEGEE AAGEEGDEEV
EEDLA*
speed 1.46 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