Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999907981577371 (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
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analysed issue analysis result
name of alteration no title
alteration (phys. location) chr6:90326360C>TN/A show variant in all transcripts   IGV
HGNC symbol ANKRD6
Ensembl transcript ID ENST00000339746
Genbank transcript ID N/A
UniProt peptide Q9Y2G4
alteration type single base exchange
alteration region CDS
DNA changes c.698C>T
cDNA.1008C>T
g.183472C>T
AA changes T233M Score: 81 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 233
frameshift no
known variant Reference ID: rs2273238
databasehomozygous (T/T)heterozygousallele carriers
1000G166779945
ExAC13261110912435
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.2870.707
0.1640.068
(flanking)-1.3150.009
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 17
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      233VAKILLEAGADTTIVNNAGQTPLE
mutated  not conserved    233VAKILLEAGADMTIVNNAG
Ptroglodytes  all identical  ENSPTRG00000018421  233VAKILLEAGADTTIVNNAG
Mmulatta  all identical  ENSMMUG00000003462  233VAKILLEAGADTTIVNNAG
Fcatus  not conserved  ENSFCAG00000008881  233VVKILLEAGADGTIVNNAG
Mmusculus  all identical  ENSMUSG00000040183  233VVKVLLEAGADTTIVNNAG
Ggallus  all identical  ENSGALG00000015768  233VVKLLLEAGADTSVVNNAG
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000057790  160AVSLLLEAGADANIKNNTGQTAL
Dmelanogaster  not conserved  FBgn0086898  223LTRILLEADARLGIKNAQGDCPM
Celegans  all conserved  Y47D3A.22  475AIQALVKAGAPSNIIDLNGQTPV
Xtropicalis  not conserved  ENSXETG00000019116  160VIKVLLEAGADATLLNNAGQIAL
protein features
start (aa)end (aa)featuredetails 
206235REPEATANK 7.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2184 / 2184
position (AA) of stopcodon in wt / mu AA sequence 728 / 728
position of stopcodon in wt / mu cDNA 2494 / 2494
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 311 / 311
chromosome 6
strand 1
last intron/exon boundary 1923
theoretical NMD boundary in CDS 1562
length of CDS 2184
coding sequence (CDS) position 698
cDNA position
(for ins/del: last normal base / first normal base)		 1008
gDNA position
(for ins/del: last normal base / first normal base)		 183472
chromosomal position
(for ins/del: last normal base / first normal base)		 90326360
original gDNA sequence snippet ACTGGAAGCCGGAGCAGATACGACCATTGTTAACAATGTAA
altered gDNA sequence snippet ACTGGAAGCCGGAGCAGATATGACCATTGTTAACAATGTAA
original cDNA sequence snippet ACTGGAAGCCGGAGCAGATACGACCATTGTTAACAATGCAG
altered cDNA sequence snippet ACTGGAAGCCGGAGCAGATATGACCATTGTTAACAATGCAG
wildtype AA sequence MSQQDAVAAL SERLLVAAYK GQTENVVQLI NKGARVAVTK HGRTPLHLAA NKGHLPVVQI
LLKAGCDLDV QDDGDQTALH RATVVGNTEI IAALIHEGCA LDRQDKDGNT ALHEASWHGF
SQSAKLLIKA GANVLAKNKA GNTALHLACQ NSHSQSTRVL LLAGSRADLK NNAGDTCLHV
AARYNHLSII RLLLTAFCSV HEKNQAGDTA LHVAAALNHK KVAKILLEAG ADTTIVNNAG
QTPLETARYH NNPEVALLLT KAPQVLRFSR GRSLRKKRER LKEERRAQSV PRDEVAQSKG
SVSAGDTPSS EQAVARKEEA REEFLSASPE PRAKDDRRRK SRPKVSAFSD PTPPADQQPG
HQKNLHAHNH PKKRNRHRCS SPPPPHEFRA YQLYTLYRGK DGKVMQAPIN GCRCEPLINK
LENQLEATVE EIKAELGSVQ DKMNTKLGQM ENKTQHQMRV LDKLMVERLS AERTECLNRL
QQHSDTEKHE GEKRQISLVD ELKTWCMLKI QNLEQKLSGD SRACRAKSTP STCESSTGVD
QLVVTAGPAA ASDSSPPVVR PKEKALNSTA TQRLQQELSS SDCTGSRLRN VKVQTALLPM
NEAARSDQQA GPCVNRGTQT KKSGKSGPTR HRAQQPAASS TCGQPPPATG SEQTGPHIRD
TSQALELTQY FFEAVSTQME KWYERKIEEA RSQANQKAQQ DKATLKEHIK SLEEELAKLR
TRVQKEN*
mutated AA sequence MSQQDAVAAL SERLLVAAYK GQTENVVQLI NKGARVAVTK HGRTPLHLAA NKGHLPVVQI
LLKAGCDLDV QDDGDQTALH RATVVGNTEI IAALIHEGCA LDRQDKDGNT ALHEASWHGF
SQSAKLLIKA GANVLAKNKA GNTALHLACQ NSHSQSTRVL LLAGSRADLK NNAGDTCLHV
AARYNHLSII RLLLTAFCSV HEKNQAGDTA LHVAAALNHK KVAKILLEAG ADMTIVNNAG
QTPLETARYH NNPEVALLLT KAPQVLRFSR GRSLRKKRER LKEERRAQSV PRDEVAQSKG
SVSAGDTPSS EQAVARKEEA REEFLSASPE PRAKDDRRRK SRPKVSAFSD PTPPADQQPG
HQKNLHAHNH PKKRNRHRCS SPPPPHEFRA YQLYTLYRGK DGKVMQAPIN GCRCEPLINK
LENQLEATVE EIKAELGSVQ DKMNTKLGQM ENKTQHQMRV LDKLMVERLS AERTECLNRL
QQHSDTEKHE GEKRQISLVD ELKTWCMLKI QNLEQKLSGD SRACRAKSTP STCESSTGVD
QLVVTAGPAA ASDSSPPVVR PKEKALNSTA TQRLQQELSS SDCTGSRLRN VKVQTALLPM
NEAARSDQQA GPCVNRGTQT KKSGKSGPTR HRAQQPAASS TCGQPPPATG SEQTGPHIRD
TSQALELTQY FFEAVSTQME KWYERKIEEA RSQANQKAQQ DKATLKEHIK SLEEELAKLR
TRVQKEN*
speed 0.95 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