Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999981259869 (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
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr5:75932965G>CN/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.1887G>C
cDNA.2184G>C
g.233892G>C
AA changes L629F Score: 22 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 629
frameshift no
known variant Reference ID: rs2455230
databasehomozygous (C/C)heterozygousallele carriers
1000G79011911981
ExAC19421-607513346
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.1480
0.0230
(flanking)-1.6990
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased233893wt: 0.73 / mu: 0.90wt: GCTTGTATAAAGAAT
mu: GCTTCTATAAAGAAT		 TTGT|ataa
Acc gained2338970.65mu: ACCTGAATCATGCTTCTATAAAGAATCATGGCTCACAGGAA ataa|AGAA
Donor gained2338960.30mu: TCTATAAAGAATCAT TATA|aaga
distance from splice site 37
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      629KESSWVTPESCLYKESWLTGKEIE
mutated  not conserved    629KESSWVTPESCFYKESWLTGKEI
Ptroglodytes  all identical  ENSPTRG00000017002  629KESSWVTPESCLYKESWLTGKEI
Mmulatta  all identical  ENSMMUG00000022982  610KEGSWVIPESCLYKESWLTGKEI
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000021676  629KEGSWVPPELCLSKESWLTGEEI
Ggallus  all conserved  ENSGALG00000014978  613KEAAILAVGISVINKSLEKGDSQPILTTLQSKFG
Trubripes  not conserved  ENSTRUG00000005240  632EKALAFAGAIADINRKVAKGNSK
Drerio  all conserved  ENSDARG00000060010  724KEGTWVEPEHFVHDSSQLSR
Dmelanogaster  no homologue    
Celegans  all identical  F09C3.1  581--TSQEPLHPNFLRWNPEL
Xtropicalis  all identical  ENSXETG00000003339  599EDAQTLASGVAEINLALEKDDAQQTLMALQCSKTRLKGVLPECSEVYHKDL
protein features
start (aa)end (aa)featuredetails 
690719DOMAINIQ 1.might get lost (downstream of altered splice site)
720749DOMAINIQ 2.might get lost (downstream of altered splice site)
750779DOMAINIQ 3.might get lost (downstream of altered splice site)
778778CONFLICTN -> S (in Ref. 3; BAF83755).might get lost (downstream of altered splice site)
9171150DOMAINRas-GAP.might get lost (downstream of altered splice site)
11011101CONFLICTG -> R (in Ref. 3; BAF83755).might get lost (downstream of altered splice site)
13331333CONFLICTV -> L (in Ref. 3; BAH13890).might get lost (downstream of altered splice site)
13891389MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
14711471MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
14741474MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
14791482STRANDmight get lost (downstream of altered splice site)
14831488HELIXmight get lost (downstream of altered splice site)
14911495STRANDmight get lost (downstream of altered splice site)
15001505HELIXmight get lost (downstream of altered splice site)
15061512STRANDmight get lost (downstream of altered splice site)
15181525STRANDmight get lost (downstream of altered splice site)
15281536STRANDmight get lost (downstream of altered splice site)
15371545HELIXmight get lost (downstream of altered splice site)
15501554STRANDmight get lost (downstream of altered splice site)
15571560STRANDmight get lost (downstream of altered splice site)
15611569HELIXmight get lost (downstream of altered splice site)
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 1887
cDNA position
(for ins/del: last normal base / first normal base)		 2184
gDNA position
(for ins/del: last normal base / first normal base)		 233892
chromosomal position
(for ins/del: last normal base / first normal base)		 75932965
original gDNA sequence snippet GTCACACCTGAATCATGCTTGTATAAAGAATCATGGCTCAC
altered gDNA sequence snippet GTCACACCTGAATCATGCTTCTATAAAGAATCATGGCTCAC
original cDNA sequence snippet GTCACACCTGAATCATGCTTGTATAAAGAATCATGGCTCAC
altered cDNA sequence snippet GTCACACCTGAATCATGCTTCTATAAAGAATCATGGCTCAC
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 SWVTPESCFY 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*
speed 0.38 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