Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 1 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
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analysed issue analysis result
name of alteration no title
alteration (phys. location) chr7:73969541A>GN/A show variant in all transcripts   IGV
HGNC symbol GTF2IRD1
Ensembl transcript ID ENST00000455841
Genbank transcript ID NM_001199207
UniProt peptide Q9UHL9
alteration type single base exchange
alteration region CDS
DNA changes c.2050A>G
cDNA.2263A>G
g.101422A>G
AA changes M684V Score: 21 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 684
frameshift no
known variant Reference ID: rs2301895
databasehomozygous (G/G)heterozygousallele carriers
1000G50510661571
ExAC64791980926288
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.0320
-1.040
(flanking)-0.1610.01
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 13
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      684ELLTEGVKEPIMDSQERDSGDPLV
mutated  all conserved    684ELLTEGVKEPIVDSQERDSGDPL
Ptroglodytes  all conserved  ENSPTRG00000019292  652ELLTEGVKEPIVDSQGTASSLGFSPPALPPERDSGDPL
Mmulatta  all conserved  ENSMMUG00000018842  684ELLTEGVKEPIVESQERDSGDPL
Fcatus  no alignment  ENSFCAG00000006551  n/a
Mmusculus  all conserved  ENSMUSG00000023079  652ELLTDGVKEPVLDTQERDSWDRL
Ggallus  all conserved  ENSGALG00000001263  657ELLAEGIKEMALDSPGAKAASDCGDAL
Trubripes  not conserved  ENSTRUG00000010068  663ELLTEQVKQEIPSNSVCESELDSKDATPV
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all conserved  ENSXETG00000033663  652ELISEGLKDCVVDSPGSLGINDKSNEAI
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2931 / 2931
position (AA) of stopcodon in wt / mu AA sequence 977 / 977
position of stopcodon in wt / mu cDNA 3144 / 3144
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 214 / 214
chromosome 7
strand 1
last intron/exon boundary 3076
theoretical NMD boundary in CDS 2812
length of CDS 2931
coding sequence (CDS) position 2050
cDNA position
(for ins/del: last normal base / first normal base)		 2263
gDNA position
(for ins/del: last normal base / first normal base)		 101422
chromosomal position
(for ins/del: last normal base / first normal base)		 73969541
original gDNA sequence snippet AGGGAGTCAAAGAGCCCATCATGGATAGTCAAGGTACCCAG
altered gDNA sequence snippet AGGGAGTCAAAGAGCCCATCGTGGATAGTCAAGGTACCCAG
original cDNA sequence snippet AGGGAGTCAAAGAGCCCATCATGGATAGTCAAGAGAGGGAT
altered cDNA sequence snippet AGGGAGTCAAAGAGCCCATCGTGGATAGTCAAGAGAGGGAT
wildtype AA sequence MALLGKRCDV PTNGCGPDRW NSAFTRKDEI ITSLVSALDS MCSALSKLNA EVACVAVHDE
SAFVVGTEKG RMFLNARKEL QSDFLRFCLS AAQHRAATSQ LEGRVVRRVL TVASRALCPT
GGPPWKDPEA EHPKKVQRGE GGGRSLPRSS LEHGSDVYLL RKMVEEVFDV LYSEALGRAS
VVPLPYERLL REPGLLAVQG LPEGLAFRRP AEYDPKALMA ILEHSHRIRF KLKRPLEDGG
RDSKALVELN GVSLIPKGSR DCGLHGQAPK VPPQDLPPTA TSSSMASFLY STALPNHAIR
ELKQEAPSCP LAPSDLGLSR PMPEPKATGA QDFSDCCGQK PTGPGGPLIQ NVHASKRILF
SIVHDKSEKW DAFIKETEDI NTLRECVQIL FNSRYAEALG LDHMVPVPYR KIACDPEAVE
IVGIPDKIPF KRPCTYGVPK LKRILEERHS IHFIIKRMFD ERIFTGNKFT KDTTKLEPAS
PPEDTSAEVS RATVLDLAGN ARSDKGSMSE DCGPGTSGEL GGLRPIKIEP EDLDIIQVTV
PDPSPTSEEM TDSMPGHLPS EDSGYGMEML TDKGLSEDAR PEERPVEDSH GDVIRPLRKQ
VELLFNTRYA KAIGISEPVK VPYSKFLMHP EELFVVGLPE GISLRRPNCF GIAKLRKILE
ASNSIQFVIK RPELLTEGVK EPIMDSQERD SGDPLVDESL KRQGFQENYD ARLSRIDIAN
TLREQVQDLF NKKYGEALGI KYPVQVPYKR IKSNPGSVII EGLPPGIPFR KPCTFGSQNL
ERILAVADKI KFTVTRPFQG LIPKPDEDDA NRLGEKVILR EQVKELFNEK YGEALGLNRP
VLVPYKLIRD SPDAVEVTGL PDDIPFRNPN TYDIHRLEKI LKAREHVRMV IINQLQPFAE
ICNDAKVPAK DSSIPKRKRK RVSEGNSVSS SSSSSSSSSS NPDSVASANQ ISLVQWPMYM
VDYAGLNVQL PGPLNY*
mutated AA sequence MALLGKRCDV PTNGCGPDRW NSAFTRKDEI ITSLVSALDS MCSALSKLNA EVACVAVHDE
SAFVVGTEKG RMFLNARKEL QSDFLRFCLS AAQHRAATSQ LEGRVVRRVL TVASRALCPT
GGPPWKDPEA EHPKKVQRGE GGGRSLPRSS LEHGSDVYLL RKMVEEVFDV LYSEALGRAS
VVPLPYERLL REPGLLAVQG LPEGLAFRRP AEYDPKALMA ILEHSHRIRF KLKRPLEDGG
RDSKALVELN GVSLIPKGSR DCGLHGQAPK VPPQDLPPTA TSSSMASFLY STALPNHAIR
ELKQEAPSCP LAPSDLGLSR PMPEPKATGA QDFSDCCGQK PTGPGGPLIQ NVHASKRILF
SIVHDKSEKW DAFIKETEDI NTLRECVQIL FNSRYAEALG LDHMVPVPYR KIACDPEAVE
IVGIPDKIPF KRPCTYGVPK LKRILEERHS IHFIIKRMFD ERIFTGNKFT KDTTKLEPAS
PPEDTSAEVS RATVLDLAGN ARSDKGSMSE DCGPGTSGEL GGLRPIKIEP EDLDIIQVTV
PDPSPTSEEM TDSMPGHLPS EDSGYGMEML TDKGLSEDAR PEERPVEDSH GDVIRPLRKQ
VELLFNTRYA KAIGISEPVK VPYSKFLMHP EELFVVGLPE GISLRRPNCF GIAKLRKILE
ASNSIQFVIK RPELLTEGVK EPIVDSQERD SGDPLVDESL KRQGFQENYD ARLSRIDIAN
TLREQVQDLF NKKYGEALGI KYPVQVPYKR IKSNPGSVII EGLPPGIPFR KPCTFGSQNL
ERILAVADKI KFTVTRPFQG LIPKPDEDDA NRLGEKVILR EQVKELFNEK YGEALGLNRP
VLVPYKLIRD SPDAVEVTGL PDDIPFRNPN TYDIHRLEKI LKAREHVRMV IINQLQPFAE
ICNDAKVPAK DSSIPKRKRK RVSEGNSVSS SSSSSSSSSS NPDSVASANQ ISLVQWPMYM
VDYAGLNVQL PGPLNY*
speed 1.29 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