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 ENST00000379730
Genbank transcript ID N/A
UniProt peptide Q13576
alteration type single base exchange
alteration region CDS
DNA changes c.676A>G
cDNA.2221A>G
g.249577A>G
AA changes I226V Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 226
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      226RRQTFIDNTDSIVKIQSWFRMATA
mutated  all conserved    226RRQTFIDNTDSVVKIQSWFRMAT
Ptroglodytes  all conserved  ENSPTRG00000017002  694RKSFLHEQEENVVKIQAFWKGYK
Mmulatta  all conserved  ENSMMUG00000022982  675RKSFLHEQEENVVKIQAFWKGCK
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000021676  694RKAFLYEQTESVVKIQAFWKGFKQRQEYLHRQQVFAGNVDSVVKIQSWFRMVT
Ggallus  all identical  ENSGALG00000014978  777RLKVLQSNVAAIVKIQSWVKMWL
Trubripes  all conserved  ENSTRUG00000005240  799RMNLLEKNVASVVKIQSMVKMWK
Drerio  all conserved  ENSDARG00000060010  806RLRTFQDSASTVVKLQSLVKMWR
Dmelanogaster  no homologue    
Celegans  all conserved  F09C3.1  617FDEYWKEKEKEVVKGQAALRKFL
Xtropicalis  all identical  ENSXETG00000003339  766RLKLLQANIVGIVKIQSWFRMLK
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3234 / 3234
position (AA) of stopcodon in wt / mu AA sequence 1078 / 1078
position of stopcodon in wt / mu cDNA 4779 / 4779
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 1546 / 1546
chromosome 5
strand 1
last intron/exon boundary 4666
theoretical NMD boundary in CDS 3070
length of CDS 3234
coding sequence (CDS) position 676
cDNA position
(for ins/del: last normal base / first normal base)		 2221
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 MVNAQIQEEN DRVVAVGYIN EAIDEGNPLR TLETLLLPTA NISDVDPAHA QHYQDVLYHA
KSQKLGDSES VSKVLWLDEI QQAVDDANVD KDRAKQWVTL VVDVNQCLEG KKSSDILSVL
KSSTSNANDI IPECADKYYD ALVKAKELKS ERVSSDGSWL KLNLHKKYDY YYNTDSKESS
WVTPESCLYK ESWLTGKEIE AFWKGYKQRK EYMHRRQTFI DNTDSIVKIQ SWFRMATARK
SYLSRLQYFR DHNNEIVKIQ SLLRANKARD DYKTLVGSEN PPLTVIRKFV YLLDQSDLDF
QEELEVARLR EEVVTKIRAN QQLEKDLNLM DIKIGLLVKN RITLEDVISH SKKLNKKKGG
EMEILNNTDN QGIKSLSKER RKTLETYQQL FYLLQTNPLY LAKLIFQMPQ NKSTKFMDTV
IFTLYNYASN QREEYLLLKL FKTALEEEIK SKVDQVQDIV TGNPTVIKMV VSFNRGARGQ
NTLRQLLAPV VKEIIDDKSL IINTNPVEVY KAWVNQLETQ TGEASKLPYD VTTEQALTYP
EVKNKLEASI ENLRRVTDKV LNSIISSLDL LPYGLRYIAK VLKNSIHEKF PDATEDELLK
IVGNLLYYRY MNPAIVAPDG FDIIDMTAGG QINSDQRRNL GSVAKVLQHA ASNKLFEGEN
EHLSSMNNYL SETYQEFRKY FKEACNVPEP EEKFNMDKYT DLVTVSKPVI YISIEEIIST
HSLLLEHQDA IAPEKNDLLS ELLGSLGEVP TVESFLGEGA VDPNDPNKAN TLSQLSKTEI
SLVLTSKYDI EDGEAIDSRS LMIKTKKLII DVIRNQPGNT LTEILETPAT AQQEVDHATD
MVSRAMIDSR TPEEMKHSQS MIEDAQLPLE QKKRKIQRNL RTLEQTGHVS SENKYQDILN
EIAKDIRNQR IYRKLRKAEL AKLQQTLNAL NKKAAFYEEQ INYYDTYIKT CLDNLKRKNT
RRSIKLDGKG EPKGAKRAKP VKYTAAKLHE KGVLLDIDDL QTNQFKNVTF DIIATEDVGI
FDVRSKFLGV EMEKVQLNIQ DLLQMQYEGV AVMKMFDKVK VNVNLLIYLL NKKFYGK*
mutated AA sequence MVNAQIQEEN DRVVAVGYIN EAIDEGNPLR TLETLLLPTA NISDVDPAHA QHYQDVLYHA
KSQKLGDSES VSKVLWLDEI QQAVDDANVD KDRAKQWVTL VVDVNQCLEG KKSSDILSVL
KSSTSNANDI IPECADKYYD ALVKAKELKS ERVSSDGSWL KLNLHKKYDY YYNTDSKESS
WVTPESCLYK ESWLTGKEIE AFWKGYKQRK EYMHRRQTFI DNTDSVVKIQ SWFRMATARK
SYLSRLQYFR DHNNEIVKIQ SLLRANKARD DYKTLVGSEN PPLTVIRKFV YLLDQSDLDF
QEELEVARLR EEVVTKIRAN QQLEKDLNLM DIKIGLLVKN RITLEDVISH SKKLNKKKGG
EMEILNNTDN QGIKSLSKER RKTLETYQQL FYLLQTNPLY LAKLIFQMPQ NKSTKFMDTV
IFTLYNYASN QREEYLLLKL FKTALEEEIK SKVDQVQDIV TGNPTVIKMV VSFNRGARGQ
NTLRQLLAPV VKEIIDDKSL IINTNPVEVY KAWVNQLETQ TGEASKLPYD VTTEQALTYP
EVKNKLEASI ENLRRVTDKV LNSIISSLDL LPYGLRYIAK VLKNSIHEKF PDATEDELLK
IVGNLLYYRY MNPAIVAPDG FDIIDMTAGG QINSDQRRNL GSVAKVLQHA ASNKLFEGEN
EHLSSMNNYL SETYQEFRKY FKEACNVPEP EEKFNMDKYT DLVTVSKPVI YISIEEIIST
HSLLLEHQDA IAPEKNDLLS ELLGSLGEVP TVESFLGEGA VDPNDPNKAN TLSQLSKTEI
SLVLTSKYDI EDGEAIDSRS LMIKTKKLII DVIRNQPGNT LTEILETPAT AQQEVDHATD
MVSRAMIDSR TPEEMKHSQS MIEDAQLPLE QKKRKIQRNL RTLEQTGHVS SENKYQDILN
EIAKDIRNQR IYRKLRKAEL AKLQQTLNAL NKKAAFYEEQ INYYDTYIKT CLDNLKRKNT
RRSIKLDGKG EPKGAKRAKP VKYTAAKLHE KGVLLDIDDL QTNQFKNVTF DIIATEDVGI
FDVRSKFLGV EMEKVQLNIQ DLLQMQYEGV AVMKMFDKVK VNVNLLIYLL NKKFYGK*
speed 1.08 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