Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.994488883358344 (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) chr5:72348272A>GN/A show variant in all transcripts   IGV
HGNC symbol FCHO2
Ensembl transcript ID ENST00000512348
Genbank transcript ID NM_001146032
UniProt peptide Q0JRZ9
alteration type single base exchange
alteration region CDS
DNA changes c.1012A>G
cDNA.1040A>G
g.96465A>G
AA changes M338V Score: 21 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 338
frameshift no
known variant Reference ID: rs185435
databasehomozygous (G/G)heterozygousallele carriers
1000G2388271065
ExAC19161398315899
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.0610.992
0.2790.993
(flanking)1.541
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained964590.30mu: CACATCACACAGTGG CATC|acac
Donor gained964640.88mu: CACACAGTGGCTTCT CACA|gtgg
distance from splice site 63
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      338KPMHPNNSHHTMASLDELKVSIGN
mutated  all conserved    338KPMHPNNSHHTVASLDELKVSIG
Ptroglodytes  all conserved  ENSPTRG00000016973  371PMHPNNSHHTVASLDELKVSIG
Mmulatta  all identical  ENSMMUG00000015422  374KPMHPNNSHHTMASLDELKVSIG
Fcatus  all identical  ENSFCAG00000002158  304HHTMASLDELKVSIG
Mmusculus  all identical  ENSMUSG00000041685  371PAHPNNLHHTMASLDELKVSIG
Ggallus  all identical  ENSGALG00000015019  372KPVQPNNSSQYTMPSLDELKVSIG
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000035389  389KPVQTNNGTHQHKVTIDELKASIG
Dmelanogaster  not conserved  FBgn0037702  729KPLK-NGQAPMS
Celegans  not conserved  F56D12.6  532DRPVHINASVDELRDAIG
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
387387MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
394394MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
403403MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
434519COMPBIASSer-rich.might get lost (downstream of altered splice site)
439439CONFLICTS -> P (in Ref. 1; BAF84471).might get lost (downstream of altered splice site)
462462CONFLICTP -> Q (in Ref. 2; AL831971).might get lost (downstream of altered splice site)
488488MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
509509MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
510510MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
511511MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
521810REGIONMediates interaction with DAB2, EPS15, EPS15R and ITSN1.might get lost (downstream of altered splice site)
542808DOMAINMUHD.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2334 / 2334
position (AA) of stopcodon in wt / mu AA sequence 778 / 778
position of stopcodon in wt / mu cDNA 2362 / 2362
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 29 / 29
chromosome 5
strand 1
last intron/exon boundary 2340
theoretical NMD boundary in CDS 2261
length of CDS 2334
coding sequence (CDS) position 1012
cDNA position
(for ins/del: last normal base / first normal base)		 1040
gDNA position
(for ins/del: last normal base / first normal base)		 96465
chromosomal position
(for ins/del: last normal base / first normal base)		 72348272
original gDNA sequence snippet CAAATAACTCACATCACACAATGGCTTCTTTGGATGAATTA
altered gDNA sequence snippet CAAATAACTCACATCACACAGTGGCTTCTTTGGATGAATTA
original cDNA sequence snippet CAAATAACTCACATCACACAATGGCTTCTTTGGATGAATTA
altered cDNA sequence snippet CAAATAACTCACATCACACAGTGGCTTCTTTGGATGAATTA
wildtype AA sequence MVMAYFVENF WGEKNSGFDV LYHNMKHGQI STKELADFVR ERATIEEAYS RSMTKLAKSA
SNYSQLGTFA PVWDVFKTST EKLANCHLDL VRKLQELIKE VQKYGEEQVK SHKKTKEEVA
GTLEAVQTIQ SITQALQKSK ENYNAKCVEQ ERLKKEGATQ REIEKAAVKS KKATDTYKLY
VEKYALAKAD FEQKMTETAQ VHEEFINNMA NTTVESLIQK FAESKGTGKE RPGLIEFEEC
DTASAVEGIK PRKRKTFALP GIIKKEKDAE SVECPDADSL NIPDVDEEGY SIKPETNQND
TKENHFYSSS DSDSEDEEPK KYRIEIKPMH PNNSHHTMAS LDELKVSIGN ITLSPAISRH
SPVQMNRNLS NEELTKSKPS APPNEKGTSD LLAWDPLFGP SLDSSSSSSL TSSSSARPTT
PLSVGTIVPP PRPASRPKLT SGKLSGINEI PRPFSPPVTS NTSPPPAAPL ARAESSSSIS
SSASLSAANT PTVGVSRGPS PVSLGNQDTL PVAVALTESV NAYFKGADPT KCIVKITGDM
TMSFPSGIIK VFTSNPTPAV LCFRVKNISR LEQILPNAQL VFSDPSQCDS NTKDFWMNMQ
AVTVYLKKLS EQNPAASYYN VDVLKYQVSS NGIQSTPLNL ATYWKCSAST TDLRVDYKYN
PEAMVAPSVL SNIQVVVPVD GGVTNMQSLP PAIWNAEQMK AFWKLSSISE KSENGGSGSL
RAKFDLSEGP SKPTTLAVQF LSEGSTLSGV DFELVGTGYR LSLIKKRFAT GRYLADC*
mutated AA sequence MVMAYFVENF WGEKNSGFDV LYHNMKHGQI STKELADFVR ERATIEEAYS RSMTKLAKSA
SNYSQLGTFA PVWDVFKTST EKLANCHLDL VRKLQELIKE VQKYGEEQVK SHKKTKEEVA
GTLEAVQTIQ SITQALQKSK ENYNAKCVEQ ERLKKEGATQ REIEKAAVKS KKATDTYKLY
VEKYALAKAD FEQKMTETAQ VHEEFINNMA NTTVESLIQK FAESKGTGKE RPGLIEFEEC
DTASAVEGIK PRKRKTFALP GIIKKEKDAE SVECPDADSL NIPDVDEEGY SIKPETNQND
TKENHFYSSS DSDSEDEEPK KYRIEIKPMH PNNSHHTVAS LDELKVSIGN ITLSPAISRH
SPVQMNRNLS NEELTKSKPS APPNEKGTSD LLAWDPLFGP SLDSSSSSSL TSSSSARPTT
PLSVGTIVPP PRPASRPKLT SGKLSGINEI PRPFSPPVTS NTSPPPAAPL ARAESSSSIS
SSASLSAANT PTVGVSRGPS PVSLGNQDTL PVAVALTESV NAYFKGADPT KCIVKITGDM
TMSFPSGIIK VFTSNPTPAV LCFRVKNISR LEQILPNAQL VFSDPSQCDS NTKDFWMNMQ
AVTVYLKKLS EQNPAASYYN VDVLKYQVSS NGIQSTPLNL ATYWKCSAST TDLRVDYKYN
PEAMVAPSVL SNIQVVVPVD GGVTNMQSLP PAIWNAEQMK AFWKLSSISE KSENGGSGSL
RAKFDLSEGP SKPTTLAVQF LSEGSTLSGV DFELVGTGYR LSLIKKRFAT GRYLADC*
speed 1.24 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