Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999826 (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) chr12:133306589C>TN/A show variant in all transcripts   IGV
HGNC symbol ANKLE2
Ensembl transcript ID ENST00000539605
Genbank transcript ID N/A
UniProt peptide Q86XL3
alteration type single base exchange
alteration region CDS
DNA changes c.1973G>A
cDNA.8658G>A
g.31886G>A
AA changes R658H Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 658
frameshift no
known variant Reference ID: rs10781634
databasehomozygous (T/T)heterozygousallele carriers
1000G2028341036
ExAC76261751525141
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.6140
0.2240
(flanking)-3.040
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased31888wt: 0.24 / mu: 0.64wt: CCCGTGGGGAGGAAG
mu: CCCATGGGGAGGAAG		 CGTG|ggga
Donor marginally increased31887wt: 0.9115 / mu: 0.9755 (marginal change - not scored)wt: CCCCGTGGGGAGGAA
mu: CCCCATGGGGAGGAA		 CCGT|gggg
Donor increased31891wt: 0.64 / mu: 0.74wt: GTGGGGAGGAAGCCC
mu: ATGGGGAGGAAGCCC		 GGGG|agga
distance from splice site 268
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      658RTLAGKRPKAPRGEEAHLPPVSDL
mutated  not conserved    658RTLAGKRPKAPHGE
Ptroglodytes  no homologue    
Mmulatta  all identical  ENSMMUG00000015467  92RTLVGKRPKAPRGEEAHLPPVSD
Fcatus  not conserved  ENSFCAG00000002504  624QTLGRRRTEAPHGEEALLSPVPG
Mmusculus  not conserved  ENSMUSG00000029501  732ADGRGLEATNGEEALPPPVSV
Ggallus  no homologue    
Trubripes  not conserved  ENSTRUG00000013275  686RTHNGEKMGPRSP-ASSTMLSPVSN
Drerio  not conserved  ENSDARG00000035607  666RTPNGDK-VSPRICGSSNSCMLSPISN
Dmelanogaster  no alignment  FBgn0028343  n/a
Celegans  no alignment  Y55F3BR.8  n/a
Xtropicalis  not conserved  ENSXETG00000023848  657QYLPGE-SRHKGVHEGMLSPVSN
protein features
start (aa)end (aa)featuredetails 
33938TOPO_DOMCytoplasmic (Potential).lost
662662CONFLICTS -> I (in Ref. 1; BAG52720).might get lost (downstream of altered splice site)
662662MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
680680CONFLICTE -> K (in Ref. 1; BAG52720).might get lost (downstream of altered splice site)
863863CONFLICTL -> P (in Ref. 1; BAG51259).might get lost (downstream of altered splice site)
891891CONFLICTG -> A (in Ref. 1; BAG52720).might get lost (downstream of altered splice site)
896896MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
914914MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
919919MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2631 / 2631
position (AA) of stopcodon in wt / mu AA sequence 877 / 877
position of stopcodon in wt / mu cDNA 9316 / 9316
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 6686 / 6686
chromosome 12
strand -1
last intron/exon boundary 9115
theoretical NMD boundary in CDS 2379
length of CDS 2631
coding sequence (CDS) position 1973
cDNA position
(for ins/del: last normal base / first normal base)		 8658
gDNA position
(for ins/del: last normal base / first normal base)		 31886
chromosomal position
(for ins/del: last normal base / first normal base)		 133306589
original gDNA sequence snippet CAAGAGACCAAAGGCCCCCCGTGGGGAGGAAGCCCATCTGC
altered gDNA sequence snippet CAAGAGACCAAAGGCCCCCCATGGGGAGGAAGCCCATCTGC
original cDNA sequence snippet CAAGAGACCAAAGGCCCCCCGTGGGGAGGAAGCCCATCTGC
altered cDNA sequence snippet CAAGAGACCAAAGGCCCCCCATGGGGAGGAAGCCCATCTGC
wildtype AA sequence MTMDALLARL KLLNPDDLRE EIVKAGLKCG PITSTTRFIF EKKLAQALLE QGGRLSSFYH
HEAGVTALSQ DPQRILKPAE GNPTDQAGFS EDRDFGYSVG LNPPEEEAVT SKTCSVPPSD
TDTYRAGATA SKEPPLYYGV CPVYEDVPAR NERIYVYENK KEALQAVKMI KGSRFKAFST
REDAEKFARG ICDYFPSPSK TSLPLSPVKT APLFSNDRLK DGLCLSESET VNKERANSYK
NPRTQDLTAK LRKAVEKGEE DTFSDLIWSN PRYLIGSGDN PTIVQEGCRY NVMHVAAKEN
QASICQLTLD VLENPDFMRL MYPDDDEAML QKRIRYVVDL YLNTPDKMGY DTPLHFACKF
GNADVVNVLS SHHLIVKNSR NKYDKTPEDV ICERSKNKSV ELKERIREYL KGHYYVPLLR
AEETSSPVIG ELWSPDQTAE ASHVSRYGGS PRDPVLTLRA FAGPLSPAKA EDFRKLWKTP
PREKAGFLHH VKKSDPERGF ERVGRELAHE LGYPWVEYWE FLGCFVDLSS QEGLQRLEEY
LTQQEIGKKA QQETGEREAS CRDKATTSGS NSISVRAFLD EDDMSLEEIK NRQNAARNNS
PPTVGAFGHT RCSAFPLEQE ADLIEAAEPG GPHSSRNGLC HPLNHSRTLA GKRPKAPRGE
EAHLPPVSDL TVEFDKLNLQ NIGRSVSKTP DESTKTKDQI LTSRINAVER DLLEPSPADQ
LGNGHRRTES EMSARIAKMS LSPSSPRHED QLEVTREPAR RLFLFGEEPS KLDQDVLAAL
ECADVDPHQF PAVHRWKSAV LCYSPSDRQS WPSPAVKGRF KSQLPDLSGP HSYSPGRNSV
AGSNPAKPGL GSPGRYSPVH GSQLRRMARL AELAAL*
mutated AA sequence MTMDALLARL KLLNPDDLRE EIVKAGLKCG PITSTTRFIF EKKLAQALLE QGGRLSSFYH
HEAGVTALSQ DPQRILKPAE GNPTDQAGFS EDRDFGYSVG LNPPEEEAVT SKTCSVPPSD
TDTYRAGATA SKEPPLYYGV CPVYEDVPAR NERIYVYENK KEALQAVKMI KGSRFKAFST
REDAEKFARG ICDYFPSPSK TSLPLSPVKT APLFSNDRLK DGLCLSESET VNKERANSYK
NPRTQDLTAK LRKAVEKGEE DTFSDLIWSN PRYLIGSGDN PTIVQEGCRY NVMHVAAKEN
QASICQLTLD VLENPDFMRL MYPDDDEAML QKRIRYVVDL YLNTPDKMGY DTPLHFACKF
GNADVVNVLS SHHLIVKNSR NKYDKTPEDV ICERSKNKSV ELKERIREYL KGHYYVPLLR
AEETSSPVIG ELWSPDQTAE ASHVSRYGGS PRDPVLTLRA FAGPLSPAKA EDFRKLWKTP
PREKAGFLHH VKKSDPERGF ERVGRELAHE LGYPWVEYWE FLGCFVDLSS QEGLQRLEEY
LTQQEIGKKA QQETGEREAS CRDKATTSGS NSISVRAFLD EDDMSLEEIK NRQNAARNNS
PPTVGAFGHT RCSAFPLEQE ADLIEAAEPG GPHSSRNGLC HPLNHSRTLA GKRPKAPHGE
EAHLPPVSDL TVEFDKLNLQ NIGRSVSKTP DESTKTKDQI LTSRINAVER DLLEPSPADQ
LGNGHRRTES EMSARIAKMS LSPSSPRHED QLEVTREPAR RLFLFGEEPS KLDQDVLAAL
ECADVDPHQF PAVHRWKSAV LCYSPSDRQS WPSPAVKGRF KSQLPDLSGP HSYSPGRNSV
AGSNPAKPGL GSPGRYSPVH GSQLRRMARL AELAAL*
speed 1.27 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