Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999946074590056 (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) chr5:75948650A>GN/A show variant in all transcripts   IGV
HGNC symbol IQGAP2
Ensembl transcript ID ENST00000396234
Genbank transcript ID N/A
UniProt peptide Q13576
alteration type single base exchange
alteration region CDS
DNA changes c.658A>G
cDNA.727A>G
g.249577A>G
AA changes I220V Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 220
frameshift no
known variant Reference ID: rs2431363
databasehomozygous (G/G)heterozygousallele carriers
1000G46811001568
ExAC15168243117599
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.0470.881
0.2140.894
(flanking)2.9130.98
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 9
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      220RRQTFIDNTDSIVKIQSWFRMATA
mutated  all conserved    220RRQTFIDNTDSVVKIQSWFRMAT
Ptroglodytes  all conserved  ENSPTRG00000017002  694VVKIQAFWKGYK
Mmulatta  all conserved  ENSMMUG00000022982  675NVVKIQAFWKGCK
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000021676  694VVKIQAFWKGFKQRQEYLHRQQVFAGNVDSVVKIQSWFRMVT
Ggallus  all identical  ENSGALG00000014978  789RLKVLQSNVAAIVKIQSWVKMWL
Trubripes  all conserved  ENSTRUG00000005240  810RMNLLEKNVASVVKIQSMVKMWK
Drerio  all conserved  ENSDARG00000060010  817RLRTFQDSASTVVKLQSLVKMWR
Dmelanogaster  no homologue    
Celegans  all conserved  F09C3.1  617FDEYWKEKEKEVVKGQAALRKFL
Xtropicalis  all identical  ENSXETG00000003339  777RLKLLQANIVGIVKIQSWFRMLK
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3216 / 3216
position (AA) of stopcodon in wt / mu AA sequence 1072 / 1072
position of stopcodon in wt / mu cDNA 3285 / 3285
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 70 / 70
chromosome 5
strand 1
last intron/exon boundary 3172
theoretical NMD boundary in CDS 3052
length of CDS 3216
coding sequence (CDS) position 658
cDNA position
(for ins/del: last normal base / first normal base)		 727
gDNA position
(for ins/del: last normal base / first normal base)		 249577
chromosomal position
(for ins/del: last normal base / first normal base)		 75948650
original gDNA sequence snippet TCATTGATAATACTGATTCTATTGTGAAGGTAAATACCCTT
altered gDNA sequence snippet TCATTGATAATACTGATTCTGTTGTGAAGGTAAATACCCTT
original cDNA sequence snippet TCATTGATAATACTGATTCTATTGTGAAGATTCAGTCCTGG
altered cDNA sequence snippet TCATTGATAATACTGATTCTGTTGTGAAGATTCAGTCCTGG
wildtype AA sequence MHSLPGVVAV GYINEAIDEG NPLRTLETLL LPTANISDVD PAHAQHYQDV LYHAKSQKLG
DSESVSKVLW LDEIQQAVDD ANVDKDRAKQ WVTLVVDVNQ CLEGKKSSDI LSVLKSSTSN
ANDIIPECAD KYYDALVKAK ELKSERVSSD GSWLKLNLHK KYDYYYNTDS KESSWVTPES
CLYKESWLTG KEIEAFWKGY KQRKEYMHRR QTFIDNTDSI VKIQSWFRMA TARKSYLSRL
QYFRDHNNEI VKIQSLLRAN KARDDYKTLV GSENPPLTVI RKFVYLLDQS DLDFQEELEV
ARLREEVVTK IRANQQLEKD LNLMDIKIGL LVKNRITLED VISHSKKLNK KKGGEMEILN
NTDNQGIKSL SKERRKTLET YQQLFYLLQT NPLYLAKLIF QMPQNKSTKF MDTVIFTLYN
YASNQREEYL LLKLFKTALE EEIKSKVDQV QDIVTGNPTV IKMVVSFNRG ARGQNTLRQL
LAPVVKEIID DKSLIINTNP VEVYKAWVNQ LETQTGEASK LPYDVTTEQA LTYPEVKNKL
EASIENLRRV TDKVLNSIIS SLDLLPYGLR YIAKVLKNSI HEKFPDATED ELLKIVGNLL
YYRYMNPAIV APDGFDIIDM TAGGQINSDQ RRNLGSVAKV LQHAASNKLF EGENEHLSSM
NNYLSETYQE FRKYFKEACN VPEPEEKFNM DKYTDLVTVS KPVIYISIEE IISTHSLLLE
HQDAIAPEKN DLLSELLGSL GEVPTVESFL GEGAVDPNDP NKANTLSQLS KTEISLVLTS
KYDIEDGEAI DSRSLMIKTK KLIIDVIRNQ PGNTLTEILE TPATAQQEVD HATDMVSRAM
IDSRTPEEMK HSQSMIEDAQ LPLEQKKRKI QRNLRTLEQT GHVSSENKYQ DILNEIAKDI
RNQRIYRKLR KAELAKLQQT LNALNKKAAF YEEQINYYDT YIKTCLDNLK RKNTRRSIKL
DGKGEPKGAK RAKPVKYTAA KLHEKGVLLD IDDLQTNQFK NVTFDIIATE DVGIFDVRSK
FLGVEMEKVQ LNIQDLLQMQ YEGVAVMKMF DKVKVNVNLL IYLLNKKFYG K*
mutated AA sequence MHSLPGVVAV GYINEAIDEG NPLRTLETLL LPTANISDVD PAHAQHYQDV LYHAKSQKLG
DSESVSKVLW LDEIQQAVDD ANVDKDRAKQ WVTLVVDVNQ CLEGKKSSDI LSVLKSSTSN
ANDIIPECAD KYYDALVKAK ELKSERVSSD GSWLKLNLHK KYDYYYNTDS KESSWVTPES
CLYKESWLTG KEIEAFWKGY KQRKEYMHRR QTFIDNTDSV VKIQSWFRMA TARKSYLSRL
QYFRDHNNEI VKIQSLLRAN KARDDYKTLV GSENPPLTVI RKFVYLLDQS DLDFQEELEV
ARLREEVVTK IRANQQLEKD LNLMDIKIGL LVKNRITLED VISHSKKLNK KKGGEMEILN
NTDNQGIKSL SKERRKTLET YQQLFYLLQT NPLYLAKLIF QMPQNKSTKF MDTVIFTLYN
YASNQREEYL LLKLFKTALE EEIKSKVDQV QDIVTGNPTV IKMVVSFNRG ARGQNTLRQL
LAPVVKEIID DKSLIINTNP VEVYKAWVNQ LETQTGEASK LPYDVTTEQA LTYPEVKNKL
EASIENLRRV TDKVLNSIIS SLDLLPYGLR YIAKVLKNSI HEKFPDATED ELLKIVGNLL
YYRYMNPAIV APDGFDIIDM TAGGQINSDQ RRNLGSVAKV LQHAASNKLF EGENEHLSSM
NNYLSETYQE FRKYFKEACN VPEPEEKFNM DKYTDLVTVS KPVIYISIEE IISTHSLLLE
HQDAIAPEKN DLLSELLGSL GEVPTVESFL GEGAVDPNDP NKANTLSQLS KTEISLVLTS
KYDIEDGEAI DSRSLMIKTK KLIIDVIRNQ PGNTLTEILE TPATAQQEVD HATDMVSRAM
IDSRTPEEMK HSQSMIEDAQ LPLEQKKRKI QRNLRTLEQT GHVSSENKYQ DILNEIAKDI
RNQRIYRKLR KAELAKLQQT LNALNKKAAF YEEQINYYDT YIKTCLDNLK RKNTRRSIKL
DGKGEPKGAK RAKPVKYTAA KLHEKGVLLD IDDLQTNQFK NVTFDIIATE DVGIFDVRSK
FLGVEMEKVQ LNIQDLLQMQ YEGVAVMKMF DKVKVNVNLL IYLLNKKFYG K*
speed 1.31 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