Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999700587787916 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM045980)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr8:134125682G>AN/A show variant in all transcripts   IGV
HGNC symbol TG
Ensembl transcript ID ENST00000519543
Genbank transcript ID N/A
UniProt peptide P01266
alteration type single base exchange
alteration region CDS
DNA changes c.1988G>A
cDNA.2305G>A
g.246480G>A
AA changes R663Q Score: 43 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 663
frameshift no
known variant Reference ID: rs1133076
databasehomozygous (A/A)heterozygousallele carriers
1000G79810951893
ExAC15712134317055

known disease mutation at this position, please check HGMD for details (HGMD ID CM045980)
regulatory features H2BK120ac, Histone, Histone 2B Lysine 120 Acetylation
H2BK12ac, Histone, Histone 2B Lysine 12 Acetylation
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)3.7651
1.7981
(flanking)1.0341
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased246471wt: 0.8011 / mu: 0.8129 (marginal change - not scored)wt: TTTTTTTTTCTAGCAATTTGAGGAAAGTCGAGGCCGGACCA
mu: TTTTTTTTTCTAGCAATTTGAGGAAAGTCAAGGCCGGACCA		 ttga|GGAA
Donor marginally increased246471wt: 0.9988 / mu: 0.9988 (marginal change - not scored)wt: ATTTGAGGAAAGTCG
mu: ATTTGAGGAAAGTCA		 TTGA|ggaa
Donor marginally increased246476wt: 0.9972 / mu: 0.9992 (marginal change - not scored)wt: AGGAAAGTCGAGGCC
mu: AGGAAAGTCAAGGCC		 GAAA|gtcg
Donor increased246481wt: 0.24 / mu: 0.59wt: AGTCGAGGCCGGACC
mu: AGTCAAGGCCGGACC		 TCGA|ggcc
distance from splice site 17
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      663RAKAVKQFEESRGRTSSKTAFYQA
mutated  all conserved    663ESQGRTSSKTAFYQ
Ptroglodytes  all conserved  ENSPTRG00000020599  1531RAKAVKQFEESQGRTSSKTAFYQ
Mmulatta  no homologue    
Fcatus  no alignment  ENSFCAG00000011954  n/a
Mmusculus  all conserved  ENSMUSG00000053469  2529RAKAVKQFEESQGRTNSKTAFYQ
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  all conserved  ENSDARG00000020084  2485RAKNIKNFEQLQGRADSKTAFYA
Dmelanogaster  no homologue    
Celegans  no alignment  F55F3.2  n/a
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
659726DOMAINThyroglobulin type-1 6.lost
687687DISULFIDBy similarity.might get lost (downstream of altered splice site)
698698DISULFIDBy similarity.might get lost (downstream of altered splice site)
703703DISULFIDBy similarity.might get lost (downstream of altered splice site)
705705DISULFIDBy similarity.might get lost (downstream of altered splice site)
726726DISULFIDBy similarity.might get lost (downstream of altered splice site)
727921DOMAINThyroglobulin type-1 7.might get lost (downstream of altered splice site)
730730DISULFIDBy similarity.might get lost (downstream of altered splice site)
748748CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
763763DISULFIDBy similarity.might get lost (downstream of altered splice site)
774774DISULFIDBy similarity.might get lost (downstream of altered splice site)
816816CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
848848CONFLICTMissing (in Ref. 13; AA sequence).might get lost (downstream of altered splice site)
898898DISULFIDBy similarity.might get lost (downstream of altered splice site)
900900DISULFIDBy similarity.might get lost (downstream of altered splice site)
921921DISULFIDBy similarity.might get lost (downstream of altered splice site)
9221073DOMAINThyroglobulin type-1 8.might get lost (downstream of altered splice site)
947947CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
984985CONFLICTEQ -> DR (in Ref. 5; CAA29456).might get lost (downstream of altered splice site)
10421042DISULFIDBy similarity.might get lost (downstream of altered splice site)
10491049DISULFIDBy similarity.might get lost (downstream of altered splice site)
10511051DISULFIDBy similarity.might get lost (downstream of altered splice site)
10731073DISULFIDBy similarity.might get lost (downstream of altered splice site)
10741145DOMAINThyroglobulin type-1 9.might get lost (downstream of altered splice site)
10771077DISULFIDBy similarity.might get lost (downstream of altered splice site)
11081108DISULFIDBy similarity.might get lost (downstream of altered splice site)
11261126DISULFIDBy similarity.might get lost (downstream of altered splice site)
11451145DISULFIDBy similarity.might get lost (downstream of altered splice site)
11461210DOMAINThyroglobulin type-1 10.might get lost (downstream of altered splice site)
11491149DISULFIDBy similarity.might get lost (downstream of altered splice site)
11691169DISULFIDBy similarity.might get lost (downstream of altered splice site)
11811181DISULFIDBy similarity.might get lost (downstream of altered splice site)
11881188DISULFIDBy similarity.might get lost (downstream of altered splice site)
11901190DISULFIDBy similarity.might get lost (downstream of altered splice site)
12101210DISULFIDBy similarity.might get lost (downstream of altered splice site)
12201220CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
13101310MOD_RESThyroxine.might get lost (downstream of altered splice site)
13481348CARBOHYDN-linked (GlcNAc...) (Probable).might get lost (downstream of altered splice site)
13491349CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
13591360CONFLICTMissing (in Ref. 13; AA sequence).might get lost (downstream of altered splice site)
13651365CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
14561469REPEATType II.might get lost (downstream of altered splice site)
14701486REPEATType II.might get lost (downstream of altered splice site)
14871503REPEATType II.might get lost (downstream of altered splice site)
15111565DOMAINThyroglobulin type-1 11.might get lost (downstream of altered splice site)
15141514DISULFIDBy similarity.might get lost (downstream of altered splice site)
15231523DISULFIDBy similarity.might get lost (downstream of altered splice site)
15431543DISULFIDBy similarity.might get lost (downstream of altered splice site)
15651565DISULFIDBy similarity.might get lost (downstream of altered splice site)
16031723REPEATType IIIA.might get lost (downstream of altered splice site)
17161716CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
17171717CONFLICTL -> A (in Ref. 13; AA sequence).might get lost (downstream of altered splice site)
17241892REPEATType IIIB.might get lost (downstream of altered splice site)
17741774CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
17761776CONFLICTT -> S (in Ref. 13; AA sequence).might get lost (downstream of altered splice site)
18691869SITENot glycosylated.might get lost (downstream of altered splice site)
18931995REPEATType IIIA.might get lost (downstream of altered splice site)
19962129REPEATType IIIB.might get lost (downstream of altered splice site)
20132013CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
20192019CONFLICTG -> H (in Ref. 13; AA sequence).might get lost (downstream of altered splice site)
21222122SITENot glycosylated.might get lost (downstream of altered splice site)
21302187REPEATType IIIA.might get lost (downstream of altered splice site)
22502250CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
22642264DISULFIDPotential.might get lost (downstream of altered splice site)
22812281DISULFIDPotential.might get lost (downstream of altered splice site)
22872287CONFLICTF -> P (in Ref. 13; AA sequence).might get lost (downstream of altered splice site)
22952295CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
25732573MOD_RESThyroxine.might get lost (downstream of altered splice site)
25822582CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
25872587MOD_RESThyroxine.might get lost (downstream of altered splice site)
27492749CARBOHYDO-linked (Xyl...) (chondroitin sulfate).might get lost (downstream of altered splice site)
27662766MOD_RESTriiodothyronine.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2706 / 2706
position (AA) of stopcodon in wt / mu AA sequence 902 / 902
position of stopcodon in wt / mu cDNA 3023 / 3023
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 318 / 318
chromosome 8
strand 1
last intron/exon boundary 2905
theoretical NMD boundary in CDS 2537
length of CDS 2706
coding sequence (CDS) position 1988
cDNA position
(for ins/del: last normal base / first normal base)		 2305
gDNA position
(for ins/del: last normal base / first normal base)		 246480
chromosomal position
(for ins/del: last normal base / first normal base)		 134125682
original gDNA sequence snippet CTAGCAATTTGAGGAAAGTCGAGGCCGGACCAGTAGCAAAA
altered gDNA sequence snippet CTAGCAATTTGAGGAAAGTCAAGGCCGGACCAGTAGCAAAA
original cDNA sequence snippet GAAGCAATTTGAGGAAAGTCGAGGCCGGACCAGTAGCAAAA
altered cDNA sequence snippet GAAGCAATTTGAGGAAAGTCAAGGCCGGACCAGTAGCAAAA
wildtype AA sequence MLPGLTTELF SPVDLNQVIV NGNQSLSSQK HWLFKHLFSA QQANLWCLSR CVQEHSFCQL
AEITESASLY FTCTLYPEAQ VCDDIMESNA QGCRLILPQM PKALFRKKVI LEDKVKNFYT
RLPFQKLMGI SIRNKVPMSE KSISNGFFEC ERRCDADPCC TGFGFLNVSQ LKGGEVTCLT
LNSLGIQMCS EENGGAWRIL DCGSPDIEVH TYPFGWYQKP MSLDSWQSLA LSSVVVDPSI
RHFDVAHVST AATSNFSAVR DLCLSECSQH EACLITTLQT QPGAVRCMFY ADTQSCTHSL
QGQNCRLLLR EEATHIYRKP GISLLSYEAS VPSVPISTHG RLLGRSQAIQ VGTSWKQVDQ
FLGVPYAAPP LAERRFQAPE PLNWTGSWDA SKPRASCWQP GTRTSTSPGV SEDCLYLNVF
IPQNVAPNAS VLVFFHNTMD REESEGWPAI DGSFLAAVGN LIVVTASYRV GVFGFLSSGS
GEVSGNWGLL DQVAALTWVQ THIRGFGGDP RRVSLAADRG GADVASIHLL TARATNSQLF
RRAVLMGGSA LSPAAVISHE RAQQQAIALA KEVSCPMSSS QEVVSCLRQK PANVLNDAQT
KLLAVSGPFH YWGPVIDGHF LREPPARALK RSLWVEVDLL IGSSQDDGLI NRAKAVKQFE
ESRGRTSSKT AFYQALQNSL GGEDSDARVE AAATWYYSLE HSTDDYASFS RALENATRDY
FIICPIIDMA SAWAKRARGN VFMYHAPENY GHGSLELLAD VQFALGLPFY PAYEGQFSLE
EKSLSLKIMQ YFSHFIRSGN PNYPYEFSRK VPTFATPWPD FVPRAGGENY KEFSELLPNR
QGLKKADCSF WSKYISSLKT SADGAKGGQS AESEEEELTA GSGLREDLLS LQEPGSKTYS
K*
mutated AA sequence MLPGLTTELF SPVDLNQVIV NGNQSLSSQK HWLFKHLFSA QQANLWCLSR CVQEHSFCQL
AEITESASLY FTCTLYPEAQ VCDDIMESNA QGCRLILPQM PKALFRKKVI LEDKVKNFYT
RLPFQKLMGI SIRNKVPMSE KSISNGFFEC ERRCDADPCC TGFGFLNVSQ LKGGEVTCLT
LNSLGIQMCS EENGGAWRIL DCGSPDIEVH TYPFGWYQKP MSLDSWQSLA LSSVVVDPSI
RHFDVAHVST AATSNFSAVR DLCLSECSQH EACLITTLQT QPGAVRCMFY ADTQSCTHSL
QGQNCRLLLR EEATHIYRKP GISLLSYEAS VPSVPISTHG RLLGRSQAIQ VGTSWKQVDQ
FLGVPYAAPP LAERRFQAPE PLNWTGSWDA SKPRASCWQP GTRTSTSPGV SEDCLYLNVF
IPQNVAPNAS VLVFFHNTMD REESEGWPAI DGSFLAAVGN LIVVTASYRV GVFGFLSSGS
GEVSGNWGLL DQVAALTWVQ THIRGFGGDP RRVSLAADRG GADVASIHLL TARATNSQLF
RRAVLMGGSA LSPAAVISHE RAQQQAIALA KEVSCPMSSS QEVVSCLRQK PANVLNDAQT
KLLAVSGPFH YWGPVIDGHF LREPPARALK RSLWVEVDLL IGSSQDDGLI NRAKAVKQFE
ESQGRTSSKT AFYQALQNSL GGEDSDARVE AAATWYYSLE HSTDDYASFS RALENATRDY
FIICPIIDMA SAWAKRARGN VFMYHAPENY GHGSLELLAD VQFALGLPFY PAYEGQFSLE
EKSLSLKIMQ YFSHFIRSGN PNYPYEFSRK VPTFATPWPD FVPRAGGENY KEFSELLPNR
QGLKKADCSF WSKYISSLKT SADGAKGGQS AESEEEELTA GSGLREDLLS LQEPGSKTYS
K*
speed 0.18 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