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 ENST00000357997
Genbank transcript ID NM_015114
UniProt peptide Q86XL3
alteration type single base exchange
alteration region CDS
DNA changes c.2159G>A
cDNA.2249G>A
g.31886G>A
AA changes R720H Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 720
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      720RTLAGKRPKAPRGEEAHLPPVSDL
mutated  not conserved    720RTLAGKRPKAPHGEEAHLPPVSD
Ptroglodytes  no homologue    
Mmulatta  all identical  ENSMMUG00000015467  92RTLVGKRPKAPRGEEAHLPPVSD
Fcatus  not conserved  ENSFCAG00000002504  624QTLGRRRTEAPHGEEALLSPVPG
Mmusculus  not conserved  ENSMUSG00000029501  733RTADGRGLEATNGEEALPPPVSV
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
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 2817 / 2817
position (AA) of stopcodon in wt / mu AA sequence 939 / 939
position of stopcodon in wt / mu cDNA 2907 / 2907
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 91 / 91
chromosome 12
strand -1
last intron/exon boundary 2706
theoretical NMD boundary in CDS 2565
length of CDS 2817
coding sequence (CDS) position 2159
cDNA position
(for ins/del: last normal base / first normal base)		 2249
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 MLWPRLAAAE WAALAWELLG ASVLLIAVRW LVRRLGPRPG GLGRSGTPVP PPSAAAAPAS
GEMTMDALLA RLKLLNPDDL REEIVKAGLK CGPITSTTRF IFEKKLAQAL LEQGGRLSSF
YHHEAGVTAL SQDPQRILKP AEGNPTDQAG FSEDRDFGYS VGLNPPEEEA VTSKTCSVPP
SDTDTYRAGA TASKEPPLYY GVCPVYEDVP ARNERIYVYE NKKEALQAVK MIKGSRFKAF
STREDAEKFA RGICDYFPSP SKTSLPLSPV KTAPLFSNDR LKDGLCLSES ETVNKERANS
YKNPRTQDLT AKLRKAVEKG EEDTFSDLIW SNPRYLIGSG DNPTIVQEGC RYNVMHVAAK
ENQASICQLT LDVLENPDFM RLMYPDDDEA MLQKRIRYVV DLYLNTPDKM GYDTPLHFAC
KFGNADVVNV LSSHHLIVKN SRNKYDKTPE DVICERSKNK SVELKERIRE YLKGHYYVPL
LRAEETSSPV IGELWSPDQT AEASHVSRYG GSPRDPVLTL RAFAGPLSPA KAEDFRKLWK
TPPREKAGFL HHVKKSDPER GFERVGRELA HELGYPWVEY WEFLGCFVDL SSQEGLQRLE
EYLTQQEIGK KAQQETGERE ASCRDKATTS GSNSISVRAF LDEDDMSLEE IKNRQNAARN
NSPPTVGAFG HTRCSAFPLE QEADLIEAAE PGGPHSSRNG LCHPLNHSRT LAGKRPKAPR
GEEAHLPPVS DLTVEFDKLN LQNIGRSVSK TPDESTKTKD QILTSRINAV ERDLLEPSPA
DQLGNGHRRT ESEMSARIAK MSLSPSSPRH EDQLEVTREP ARRLFLFGEE PSKLDQDVLA
ALECADVDPH QFPAVHRWKS AVLCYSPSDR QSWPSPAVKG RFKSQLPDLS GPHSYSPGRN
SVAGSNPAKP GLGSPGRYSP VHGSQLRRMA RLAELAAL*
mutated AA sequence MLWPRLAAAE WAALAWELLG ASVLLIAVRW LVRRLGPRPG GLGRSGTPVP PPSAAAAPAS
GEMTMDALLA RLKLLNPDDL REEIVKAGLK CGPITSTTRF IFEKKLAQAL LEQGGRLSSF
YHHEAGVTAL SQDPQRILKP AEGNPTDQAG FSEDRDFGYS VGLNPPEEEA VTSKTCSVPP
SDTDTYRAGA TASKEPPLYY GVCPVYEDVP ARNERIYVYE NKKEALQAVK MIKGSRFKAF
STREDAEKFA RGICDYFPSP SKTSLPLSPV KTAPLFSNDR LKDGLCLSES ETVNKERANS
YKNPRTQDLT AKLRKAVEKG EEDTFSDLIW SNPRYLIGSG DNPTIVQEGC RYNVMHVAAK
ENQASICQLT LDVLENPDFM RLMYPDDDEA MLQKRIRYVV DLYLNTPDKM GYDTPLHFAC
KFGNADVVNV LSSHHLIVKN SRNKYDKTPE DVICERSKNK SVELKERIRE YLKGHYYVPL
LRAEETSSPV IGELWSPDQT AEASHVSRYG GSPRDPVLTL RAFAGPLSPA KAEDFRKLWK
TPPREKAGFL HHVKKSDPER GFERVGRELA HELGYPWVEY WEFLGCFVDL SSQEGLQRLE
EYLTQQEIGK KAQQETGERE ASCRDKATTS GSNSISVRAF LDEDDMSLEE IKNRQNAARN
NSPPTVGAFG HTRCSAFPLE QEADLIEAAE PGGPHSSRNG LCHPLNHSRT LAGKRPKAPH
GEEAHLPPVS DLTVEFDKLN LQNIGRSVSK TPDESTKTKD QILTSRINAV ERDLLEPSPA
DQLGNGHRRT ESEMSARIAK MSLSPSSPRH EDQLEVTREP ARRLFLFGEE PSKLDQDVLA
ALECADVDPH QFPAVHRWKS AVLCYSPSDR QSWPSPAVKG RFKSQLPDLS GPHSYSPGRN
SVAGSNPAKP GLGSPGRYSP VHGSQLRRMA RLAELAAL*
speed 1.40 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