Yum, tasty mutations...

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.652511641687927 (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
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 ENST00000274364
Genbank transcript ID NM_006633
UniProt peptide Q13576
alteration type single base exchange
alteration region CDS
DNA changes c.2170A>G
cDNA.2467A>G
g.249577A>G
AA changes I724V Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS
724
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      724RRQTFIDNTDSIVKIQSWFRMATA
mutated  all conserved    724TDSVVKIQSWFRMAT
Ptroglodytes  all identical  ENSPTRG00000017002  724TDSIVKIQSWFRMAT
Mmulatta  all identical  ENSMMUG00000022982  705RRQTFIDNTDSIVKIQSWFRMA
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000021676  724VDSVVKIQSWFRMVT
Ggallus  all identical  ENSGALG00000014978  724REQLWLANESLIVQLQAQARGFL
Trubripes  all conserved  ENSTRUG00000005240  735REQLWLANESLVTQLQARIKGFL
Drerio  all conserved  ENSDARG00000060010  819RLRTFQDSASTVVKLQSLVKMWR
Dmelanogaster  no homologue    
Celegans  all conserved  F09C3.1  672----------ELLKTSTTPSLSL
Xtropicalis  all identical  ENSXETG00000003339  727REQLWMANENLIILLQAQIRGYL
protein features
start (aa)end (aa)featuredetails 
720749DOMAINIQ 2.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 4728 / 4728
position (AA) of stopcodon in wt / mu AA sequence 1576 / 1576
position of stopcodon in wt / mu cDNA 5025 / 5025
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 298 / 298
chromosome 5
strand 1
last intron/exon boundary 4912
theoretical NMD boundary in CDS 4564
length of CDS 4728
coding sequence (CDS) position 2170
cDNA position
(for ins/del: last normal base / first normal base)
2467
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 MPHEELPSLQ RPRYGSIVDD ERLSAEEMDE RRRQNIAYEY LCHLEEAKRW MEVCLVEELP
PTTELEEGLR NGVYLAKLAK FFAPKMVSEK KIYDVEQTRY KKSGLHFRHT DNTVQWLRAM
ESIGLPKIFY PETTDVYDRK NIPRMIYCIH ALSLYLFKLG IAPQIQDLLG KVDFTEEEIS
NMRKELEKYG IQMPSFSKIG GILANELSVD EAALHAAVIA INEAVEKGIA EQTVVTLRNP
NAVLTLVDDN LAPEYQKELW DAKKKKEENA RLKNSCISEE ERDAYEELLT QAEIQGNINK
VNRQAAVDHI NAVIPEGDPE NTLLALKKPE AQLPAVYPFA AAMYQNELFN LQKQNTMNYL
AHEELLIAVE MLSAVALLNQ ALESNDLVSV QNQLRSPAIG LNNLDKAYVE RYANTLLSVK
LEVLSQGQDN LSWNEIQNCI DMVNAQIQEE NDRVVAVGYI NEAIDEGNPL RTLETLLLPT
ANISDVDPAH AQHYQDVLYH AKSQKLGDSE SVSKVLWLDE IQQAVDDANV DKDRAKQWVT
LVVDVNQCLE GKKSSDILSV LKSSTSNAND IIPECADKYY DALVKAKELK SERVSSDGSW
LKLNLHKKYD YYYNTDSKES SWVTPESCLY KESWLTGKEI EDIIEEVTVG YIRENIWSAS
EELLLRFQAT SSGPILREEF EARKSFLHEQ EENVVKIQAF WKGYKQRKEY MHRRQTFIDN
TDSIVKIQSW FRMATARKSY LSRLQYFRDH NNEIVKIQSL LRANKARDDY KTLVGSENPP
LTVIRKFVYL LDQSDLDFQE ELEVARLREE VVTKIRANQQ LEKDLNLMDI KIGLLVKNRI
TLEDVISHSK KLNKKKGGEM EILNNTDNQG IKSLSKERRK TLETYQQLFY LLQTNPLYLA
KLIFQMPQNK STKFMDTVIF TLYNYASNQR EEYLLLKLFK TALEEEIKSK VDQVQDIVTG
NPTVIKMVVS FNRGARGQNT LRQLLAPVVK EIIDDKSLII NTNPVEVYKA WVNQLETQTG
EASKLPYDVT TEQALTYPEV KNKLEASIEN LRRVTDKVLN SIISSLDLLP YGLRYIAKVL
KNSIHEKFPD ATEDELLKIV GNLLYYRYMN PAIVAPDGFD IIDMTAGGQI NSDQRRNLGS
VAKVLQHAAS NKLFEGENEH LSSMNNYLSE TYQEFRKYFK EACNVPEPEE KFNMDKYTDL
VTVSKPVIYI SIEEIISTHS LLLEHQDAIA PEKNDLLSEL LGSLGEVPTV ESFLGEGAVD
PNDPNKANTL SQLSKTEISL VLTSKYDIED GEAIDSRSLM IKTKKLIIDV IRNQPGNTLT
EILETPATAQ QEVDHATDMV SRAMIDSRTP EEMKHSQSMI EDAQLPLEQK KRKIQRNLRT
LEQTGHVSSE NKYQDILNEI AKDIRNQRIY RKLRKAELAK LQQTLNALNK KAAFYEEQIN
YYDTYIKTCL DNLKRKNTRR SIKLDGKGEP KGAKRAKPVK YTAAKLHEKG VLLDIDDLQT
NQFKNVTFDI IATEDVGIFD VRSKFLGVEM EKVQLNIQDL LQMQYEGVAV MKMFDKVKVN
VNLLIYLLNK KFYGK*
mutated AA sequence MPHEELPSLQ RPRYGSIVDD ERLSAEEMDE RRRQNIAYEY LCHLEEAKRW MEVCLVEELP
PTTELEEGLR NGVYLAKLAK FFAPKMVSEK KIYDVEQTRY KKSGLHFRHT DNTVQWLRAM
ESIGLPKIFY PETTDVYDRK NIPRMIYCIH ALSLYLFKLG IAPQIQDLLG KVDFTEEEIS
NMRKELEKYG IQMPSFSKIG GILANELSVD EAALHAAVIA INEAVEKGIA EQTVVTLRNP
NAVLTLVDDN LAPEYQKELW DAKKKKEENA RLKNSCISEE ERDAYEELLT QAEIQGNINK
VNRQAAVDHI NAVIPEGDPE NTLLALKKPE AQLPAVYPFA AAMYQNELFN LQKQNTMNYL
AHEELLIAVE MLSAVALLNQ ALESNDLVSV QNQLRSPAIG LNNLDKAYVE RYANTLLSVK
LEVLSQGQDN LSWNEIQNCI DMVNAQIQEE NDRVVAVGYI NEAIDEGNPL RTLETLLLPT
ANISDVDPAH AQHYQDVLYH AKSQKLGDSE SVSKVLWLDE IQQAVDDANV DKDRAKQWVT
LVVDVNQCLE GKKSSDILSV LKSSTSNAND IIPECADKYY DALVKAKELK SERVSSDGSW
LKLNLHKKYD YYYNTDSKES SWVTPESCLY KESWLTGKEI EDIIEEVTVG YIRENIWSAS
EELLLRFQAT SSGPILREEF EARKSFLHEQ EENVVKIQAF WKGYKQRKEY MHRRQTFIDN
TDSVVKIQSW FRMATARKSY LSRLQYFRDH NNEIVKIQSL LRANKARDDY KTLVGSENPP
LTVIRKFVYL LDQSDLDFQE ELEVARLREE VVTKIRANQQ LEKDLNLMDI KIGLLVKNRI
TLEDVISHSK KLNKKKGGEM EILNNTDNQG IKSLSKERRK TLETYQQLFY LLQTNPLYLA
KLIFQMPQNK STKFMDTVIF TLYNYASNQR EEYLLLKLFK TALEEEIKSK VDQVQDIVTG
NPTVIKMVVS FNRGARGQNT LRQLLAPVVK EIIDDKSLII NTNPVEVYKA WVNQLETQTG
EASKLPYDVT TEQALTYPEV KNKLEASIEN LRRVTDKVLN SIISSLDLLP YGLRYIAKVL
KNSIHEKFPD ATEDELLKIV GNLLYYRYMN PAIVAPDGFD IIDMTAGGQI NSDQRRNLGS
VAKVLQHAAS NKLFEGENEH LSSMNNYLSE TYQEFRKYFK EACNVPEPEE KFNMDKYTDL
VTVSKPVIYI SIEEIISTHS LLLEHQDAIA PEKNDLLSEL LGSLGEVPTV ESFLGEGAVD
PNDPNKANTL SQLSKTEISL VLTSKYDIED GEAIDSRSLM IKTKKLIIDV IRNQPGNTLT
EILETPATAQ QEVDHATDMV SRAMIDSRTP EEMKHSQSMI EDAQLPLEQK KRKIQRNLRT
LEQTGHVSSE NKYQDILNEI AKDIRNQRIY RKLRKAELAK LQQTLNALNK KAAFYEEQIN
YYDTYIKTCL DNLKRKNTRR SIKLDGKGEP KGAKRAKPVK YTAAKLHEKG VLLDIDDLQT
NQFKNVTFDI IATEDVGIFD VRSKFLGVEM EKVQLNIQDL LQMQYEGVAV MKMFDKVKVN
VNLLIYLLNK KFYGK*
speed 1.38 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