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
 hyperlink
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 ENST00000424337
Genbank transcript ID NM_005685
UniProt peptide Q9UHL9
alteration type single base exchange
alteration region CDS
DNA changes c.1954A>G
cDNA.2028A>G
g.101422A>G
AA changes M652V Score: 21 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 652
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      652ELLTEGVKEPIMDSQERDSGDPLV
mutated  all conserved    652ELLTEGVKEPIVDSQERDSG
Ptroglodytes  all conserved  ENSPTRG00000019292  652ELLTEGVKEPIVDSQGTASS
Mmulatta  all conserved  ENSMMUG00000018842  684ELLTEGVKEPIVESQERDSGDPL
Fcatus  no alignment  ENSFCAG00000006551  n/a
Mmusculus  all conserved  ENSMUSG00000023079  652ELLTDGVKEPVLDTQERDSW
Ggallus  all conserved  ENSGALG00000001263  657MALDSPGAKAASDCGDAL
Trubripes  not conserved  ENSTRUG00000010068  663LTEQVKQEIPSNSVCESELDSKDATPV
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all conserved  ENSXETG00000033663  652GLKDCVVDSPGSLGINDKSNEAI
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2835 / 2835
position (AA) of stopcodon in wt / mu AA sequence 945 / 945
position of stopcodon in wt / mu cDNA 2909 / 2909
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 75 / 75
chromosome 7
strand 1
last intron/exon boundary 2841
theoretical NMD boundary in CDS 2716
length of CDS 2835
coding sequence (CDS) position 1954
cDNA position
(for ins/del: last normal base / first normal base)		 2028
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 QSDFLRFCRG PPWKDPEAEH PKKVQRGEGG GRSLPRSSLE
HGSDVYLLRK MVEEVFDVLY SEALGRASVV PLPYERLLRE PGLLAVQGLP EGLAFRRPAE
YDPKALMAIL EHSHRIRFKL KRPLEDGGRD SKALVELNGV SLIPKGSRDC GLHGQAPKVP
PQDLPPTATS SSMASFLYST ALPNHAIREL KQEAPSCPLA PSDLGLSRPM PEPKATGAQD
FSDCCGQKPT GPGGPLIQNV HASKRILFSI VHDKSEKWDA FIKETEDINT LRECVQILFN
SRYAEALGLD HMVPVPYRKI ACDPEAVEIV GIPDKIPFKR PCTYGVPKLK RILEERHSIH
FIIKRMFDER IFTGNKFTKD TTKLEPASPP EDTSAEVSRA TVLDLAGNAR SDKGSMSEDC
GPGTSGELGG LRPIKIEPED LDIIQVTVPD PSPTSEEMTD SMPGHLPSED SGYGMEMLTD
KGLSEDARPE ERPVEDSHGD VIRPLRKQVE LLFNTRYAKA IGISEPVKVP YSKFLMHPEE
LFVVGLPEGI SLRRPNCFGI AKLRKILEAS NSIQFVIKRP ELLTEGVKEP IMDSQERDSG
DPLVDESLKR QGFQENYDAR LSRIDIANTL REQVQDLFNK KYGEALGIKY PVQVPYKRIK
SNPGSVIIEG LPPGIPFRKP CTFGSQNLER ILAVADKIKF TVTRPFQGLI PKPDEDDANR
LGEKVILREQ VKELFNEKYG EALGLNRPVL VPYKLIRDSP DAVEVTGLPD DIPFRNPNTY
DIHRLEKILK AREHVRMVII NQLQPFAEIC NDAKVPAKDS SIPKRKRKRV SEGNSVSSSS
SSSSSSSSNP DSVASANQIS LVQWPMYMVD YAGLNVQLPG PLNY*
mutated AA sequence MALLGKRCDV PTNGCGPDRW NSAFTRKDEI ITSLVSALDS MCSALSKLNA EVACVAVHDE
SAFVVGTEKG RMFLNARKEL QSDFLRFCRG PPWKDPEAEH PKKVQRGEGG GRSLPRSSLE
HGSDVYLLRK MVEEVFDVLY SEALGRASVV PLPYERLLRE PGLLAVQGLP EGLAFRRPAE
YDPKALMAIL EHSHRIRFKL KRPLEDGGRD SKALVELNGV SLIPKGSRDC GLHGQAPKVP
PQDLPPTATS SSMASFLYST ALPNHAIREL KQEAPSCPLA PSDLGLSRPM PEPKATGAQD
FSDCCGQKPT GPGGPLIQNV HASKRILFSI VHDKSEKWDA FIKETEDINT LRECVQILFN
SRYAEALGLD HMVPVPYRKI ACDPEAVEIV GIPDKIPFKR PCTYGVPKLK RILEERHSIH
FIIKRMFDER IFTGNKFTKD TTKLEPASPP EDTSAEVSRA TVLDLAGNAR SDKGSMSEDC
GPGTSGELGG LRPIKIEPED LDIIQVTVPD PSPTSEEMTD SMPGHLPSED SGYGMEMLTD
KGLSEDARPE ERPVEDSHGD VIRPLRKQVE LLFNTRYAKA IGISEPVKVP YSKFLMHPEE
LFVVGLPEGI SLRRPNCFGI AKLRKILEAS NSIQFVIKRP ELLTEGVKEP IVDSQERDSG
DPLVDESLKR QGFQENYDAR LSRIDIANTL REQVQDLFNK KYGEALGIKY PVQVPYKRIK
SNPGSVIIEG LPPGIPFRKP CTFGSQNLER ILAVADKIKF TVTRPFQGLI PKPDEDDANR
LGEKVILREQ VKELFNEKYG EALGLNRPVL VPYKLIRDSP DAVEVTGLPD DIPFRNPNTY
DIHRLEKILK AREHVRMVII NQLQPFAEIC NDAKVPAKDS SIPKRKRKRV SEGNSVSSSS
SSSSSSSSNP DSVASANQIS LVQWPMYMVD YAGLNVQLPG PLNY*
speed 0.92 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