Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999827 (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) chr12:133331537G>AN/A show variant in all transcripts   IGV
HGNC symbol ANKLE2
Ensembl transcript ID ENST00000337516
Genbank transcript ID N/A
UniProt peptide Q86XL3
alteration type single base exchange
alteration region CDS
DNA changes c.364C>T
cDNA.431C>T
g.6938C>T
AA changes H122Y Score: 83 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 122
frameshift no
known variant Reference ID: rs1132375
databasehomozygous (A/A)heterozygousallele carriers
1000G2168721088
ExAC74741781925293
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.0320
0.3690
(flanking)-0.190
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased6936wt: 0.8981 / mu: 0.9534 (marginal change - not scored)wt: AGGAAGGCTGTCTTCTTTCTACCACCATGAGGCAGGTGTCA
mu: AGGAAGGCTGTCTTCTTTCTACTACCATGAGGCAGGTGTCA		 tcta|CCAC
Acc marginally increased6943wt: 0.9772 / mu: 0.9845 (marginal change - not scored)wt: CTGTCTTCTTTCTACCACCATGAGGCAGGTGTCACAGCTCT
mu: CTGTCTTCTTTCTACTACCATGAGGCAGGTGTCACAGCTCT		 ccat|GAGG
Acc marginally increased6941wt: 0.7897 / mu: 0.8421 (marginal change - not scored)wt: GGCTGTCTTCTTTCTACCACCATGAGGCAGGTGTCACAGCT
mu: GGCTGTCTTCTTTCTACTACCATGAGGCAGGTGTCACAGCT		 cacc|ATGA
Acc marginally increased6937wt: 0.8165 / mu: 0.8490 (marginal change - not scored)wt: GGAAGGCTGTCTTCTTTCTACCACCATGAGGCAGGTGTCAC
mu: GGAAGGCTGTCTTCTTTCTACTACCATGAGGCAGGTGTCAC		 ctac|CACC
Acc marginally increased6942wt: 0.9289 / mu: 0.9632 (marginal change - not scored)wt: GCTGTCTTCTTTCTACCACCATGAGGCAGGTGTCACAGCTC
mu: GCTGTCTTCTTTCTACTACCATGAGGCAGGTGTCACAGCTC		 acca|TGAG
Acc increased6940wt: 0.62 / mu: 0.80wt: AGGCTGTCTTCTTTCTACCACCATGAGGCAGGTGTCACAGC
mu: AGGCTGTCTTCTTTCTACTACCATGAGGCAGGTGTCACAGC		 ccac|CATG
Acc marginally increased6934wt: 0.3580 / mu: 0.3844 (marginal change - not scored)wt: GGAGGAAGGCTGTCTTCTTTCTACCACCATGAGGCAGGTGT
mu: GGAGGAAGGCTGTCTTCTTTCTACTACCATGAGGCAGGTGT		 tttc|TACC
Donor increased6941wt: 0.40 / mu: 0.50wt: ACCACCATGAGGCAG
mu: ACTACCATGAGGCAG		 CACC|atga
distance from splice site 183
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      122LEQGGRLSSFYHHEAGVTALSQDP
mutated  all conserved    122YYHEAGVTALSQD
Ptroglodytes  no homologue    
Mmulatta  no alignment  ENSMMUG00000015467  n/a
Fcatus  all identical  ENSFCAG00000002504  61PGHDMSGATTISQD
Mmusculus  not conserved  ENSMUSG00000029501  124SSLPKPSAVTAMAFIQG
Ggallus  no homologue    
Trubripes  not conserved  ENSTRUG00000013275  67ASVGISDRENSTADHAASVASVAPT
Drerio  not conserved  ENSDARG00000035607  58VESAGLTEP---DA
Dmelanogaster  no alignment  FBgn0028343  n/a
Celegans  no alignment  Y55F3BR.8  n/a
Xtropicalis  not conserved  ENSXETG00000023848  65VCDGNAGASGNAGT
protein features
start (aa)end (aa)featuredetails 
33938TOPO_DOMCytoplasmic (Potential).lost
259259MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
266266CONFLICTP -> Q (in Ref. 3; AAH43157).might get lost (downstream of altered splice site)
268268MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
411440REPEATANK.might get lost (downstream of altered splice site)
481481CONFLICTL -> V (in Ref. 3; AAH43157).might get lost (downstream of altered splice site)
487487MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
488488MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
496496MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
512512MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
528528MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
647647CONFLICTS -> N (in Ref. 3; AAH43157).might get lost (downstream of altered splice site)
662662MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
662662CONFLICTS -> I (in Ref. 1; BAG52720).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 1947 / 1947
position (AA) of stopcodon in wt / mu AA sequence 649 / 649
position of stopcodon in wt / mu cDNA 2014 / 2014
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 68 / 68
chromosome 12
strand -1
last intron/exon boundary 1959
theoretical NMD boundary in CDS 1841
length of CDS 1947
coding sequence (CDS) position 364
cDNA position
(for ins/del: last normal base / first normal base)		 431
gDNA position
(for ins/del: last normal base / first normal base)		 6938
chromosomal position
(for ins/del: last normal base / first normal base)		 133331537
original gDNA sequence snippet GAAGGCTGTCTTCTTTCTACCACCATGAGGCAGGTGTCACA
altered gDNA sequence snippet GAAGGCTGTCTTCTTTCTACTACCATGAGGCAGGTGTCACA
original cDNA sequence snippet GAAGGCTGTCTTCTTTCTACCACCATGAGGCAGGTGTCACA
altered cDNA sequence snippet GAAGGCTGTCTTCTTTCTACTACCATGAGGCAGGTGTCACA
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 VEMRFHRIDQ AGLELLTS*
mutated AA sequence MLWPRLAAAE WAALAWELLG ASVLLIAVRW LVRRLGPRPG GLGRSGTPVP PPSAAAAPAS
GEMTMDALLA RLKLLNPDDL REEIVKAGLK CGPITSTTRF IFEKKLAQAL LEQGGRLSSF
YYHEAGVTAL 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 VEMRFHRIDQ AGLELLTS*
speed 1.29 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