Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999996229164887 (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) chr9:136643994T>CN/A show variant in all transcripts   IGV
HGNC symbol VAV2
Ensembl transcript ID ENST00000371850
Genbank transcript ID NM_001134398
UniProt peptide P52735
alteration type single base exchange
alteration region CDS
DNA changes c.1780A>G
cDNA.1812A>G
g.213733A>G
AA changes M594V Score: 21 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 594
frameshift no
known variant Reference ID: rs602990
databasehomozygous (C/C)heterozygousallele carriers
1000G7938941687
ExAC16661-55516106
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)4.220.998
0.8750.621
(flanking)-3.6630.003
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained2137320.37mu: GTGGCCGTGCAGAAT GGCC|gtgc
distance from splice site 18
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      594SGAGPGPKMVAMQNYHGNPAPPGK
mutated  all conserved    594SGAGPGPKMVAVQNYHGN
Ptroglodytes  all conserved  ENSPTRG00000021525  583SGAGPGPKMVAVQNYHGN
Mmulatta  all identical  ENSMMUG00000017214  594SGAGPGPKMVAMQNYHGN
Fcatus  all conserved  ENSFCAG00000011529  520SGAGPGPKMVAVQNYHGNPAPPG
Mmusculus  all conserved  ENSMUSG00000009621  584PGAGPGPKMVAVQNYHGN
Ggallus  all conserved  ENSGALG00000002699  584LSAGPGPKMVAVQNYHGN
Trubripes  all conserved  ENSTRUG00000005204  341TGIMGEGPKMVAVRNYHGTPAPPG
Drerio  all conserved  ENSDARG00000044718  459------PKMVAIRNYHGTPAPPG
Dmelanogaster  no alignment  FBgn0040068  n/a
Celegans  no alignment  C35B8.2  n/a
Xtropicalis  all conserved  ENSXETG00000019578  583MLVACWPKMVAVQN
protein features
start (aa)end (aa)featuredetails 
586652DOMAINSH3 1.lost
626626MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
668670HELIXmight get lost (downstream of altered splice site)
673767DOMAINSH2.might get lost (downstream of altered splice site)
674677STRANDmight get lost (downstream of altered splice site)
680689HELIXmight get lost (downstream of altered splice site)
694698STRANDmight get lost (downstream of altered splice site)
707712STRANDmight get lost (downstream of altered splice site)
714725STRANDmight get lost (downstream of altered splice site)
728731STRANDmight get lost (downstream of altered splice site)
737739STRANDmight get lost (downstream of altered splice site)
740747HELIXmight get lost (downstream of altered splice site)
752755TURNmight get lost (downstream of altered splice site)
816877DOMAINSH3 2.might get lost (downstream of altered splice site)
819825STRANDmight get lost (downstream of altered splice site)
842844STRANDmight get lost (downstream of altered splice site)
847854STRANDmight get lost (downstream of altered splice site)
856860STRANDmight get lost (downstream of altered splice site)
863867STRANDmight get lost (downstream of altered splice site)
869874STRANDmight get lost (downstream of altered splice site)
877877CONFLICTI -> T (in Ref. 5; CAE45861).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2637 / 2637
position (AA) of stopcodon in wt / mu AA sequence 879 / 879
position of stopcodon in wt / mu cDNA 2669 / 2669
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 33 / 33
chromosome 9
strand -1
last intron/exon boundary 2622
theoretical NMD boundary in CDS 2539
length of CDS 2637
coding sequence (CDS) position 1780
cDNA position
(for ins/del: last normal base / first normal base)		 1812
gDNA position
(for ins/del: last normal base / first normal base)		 213733
chromosomal position
(for ins/del: last normal base / first normal base)		 136643994
original gDNA sequence snippet CAGGTCCCAAGATGGTGGCCATGCAGAATTACCATGGCAAC
altered gDNA sequence snippet CAGGTCCCAAGATGGTGGCCGTGCAGAATTACCATGGCAAC
original cDNA sequence snippet CAGGTCCCAAGATGGTGGCCATGCAGAATTACCATGGCAAC
altered cDNA sequence snippet CAGGTCCCAAGATGGTGGCCGTGCAGAATTACCATGGCAAC
wildtype AA sequence MEQWRQCGRW LIDCKVLPPN HRVVWPSAVV FDLAQALRDG VLLCQLLHNL SPGSIDLKDI
NFRPQMSQFL CLKNIRTFLK VCHDKFGLRN SELFDPFDLF DVRDFGKVIS AVSRLSLHSI
AQNKGIRPFP SEETTENDDD VYRSLEELAD EHDLGEDIYD CVPCEDGGDD IYEDIIKVEV
QQPMIRYMQK MGMTEDDKRN CCLLEIQETE AKYYRTLEDI EKNYMSPLRL VLSPADMAAV
FINLEDLIKV HHSFLRAIDV SVMVGGSTLA KVFLDFKERL LIYGEYCSHM EHAQNTLNQL
LASREDFRQK VEECTLKVQD GKFKLQDLLV VPMQRVLKYH LLLKELLSHS AERPERQQLK
EALEAMQDLA MYINEVKRDK ETLRKISEFQ SSIENLQVKL EEFGRPKIDG ELKVRSIVNH
TKQDRYLFLF DKVVIVCKRK GYSYELKEII ELLFHKMTDD PMNNKDVKKS HGKMWSYGFY
LIHLQGKQGF QFFCKTEDMK RKWMEQFEMA MSNIKPDKAN ANHHSFQMYT FDKTTNCKAC
KMFLRGTFYQ GYMCTKCGVG AHKECLEVIP PCKFTSPADL DASGAGPGPK MVAMQNYHGN
PAPPGKPVLT FQTGDVLELL RGDPESPWWE GRLVQTRKSG YFPSSSVKPC PVDGRPPISR
PPSREIDYTA YPWFAGNMER QQTDNLLKSH ASGTYLIRER PAEAERFAIS IKFNDEVKHI
KVVEKDNWIH ITEAKKFDSL LELVEYYQCH SLKESFKQLD TTLKYPYKSR ERSASRASSR
SPASCASYNF SFLSPQGLSF ASQGPSAPFW SVFTPRVIGT AVARYNFAAR DMRELSLREG
DVVRIYSRIG GDQGWWKGET NGRIGWFPST YVEEEGIQ*
mutated AA sequence MEQWRQCGRW LIDCKVLPPN HRVVWPSAVV FDLAQALRDG VLLCQLLHNL SPGSIDLKDI
NFRPQMSQFL CLKNIRTFLK VCHDKFGLRN SELFDPFDLF DVRDFGKVIS AVSRLSLHSI
AQNKGIRPFP SEETTENDDD VYRSLEELAD EHDLGEDIYD CVPCEDGGDD IYEDIIKVEV
QQPMIRYMQK MGMTEDDKRN CCLLEIQETE AKYYRTLEDI EKNYMSPLRL VLSPADMAAV
FINLEDLIKV HHSFLRAIDV SVMVGGSTLA KVFLDFKERL LIYGEYCSHM EHAQNTLNQL
LASREDFRQK VEECTLKVQD GKFKLQDLLV VPMQRVLKYH LLLKELLSHS AERPERQQLK
EALEAMQDLA MYINEVKRDK ETLRKISEFQ SSIENLQVKL EEFGRPKIDG ELKVRSIVNH
TKQDRYLFLF DKVVIVCKRK GYSYELKEII ELLFHKMTDD PMNNKDVKKS HGKMWSYGFY
LIHLQGKQGF QFFCKTEDMK RKWMEQFEMA MSNIKPDKAN ANHHSFQMYT FDKTTNCKAC
KMFLRGTFYQ GYMCTKCGVG AHKECLEVIP PCKFTSPADL DASGAGPGPK MVAVQNYHGN
PAPPGKPVLT FQTGDVLELL RGDPESPWWE GRLVQTRKSG YFPSSSVKPC PVDGRPPISR
PPSREIDYTA YPWFAGNMER QQTDNLLKSH ASGTYLIRER PAEAERFAIS IKFNDEVKHI
KVVEKDNWIH ITEAKKFDSL LELVEYYQCH SLKESFKQLD TTLKYPYKSR ERSASRASSR
SPASCASYNF SFLSPQGLSF ASQGPSAPFW SVFTPRVIGT AVARYNFAAR DMRELSLREG
DVVRIYSRIG GDQGWWKGET NGRIGWFPST YVEEEGIQ*
speed 1.12 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