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 ENST00000520793
Genbank transcript ID NM_001242814
UniProt peptide Q9Y2G4
alteration type single base exchange
alteration region CDS
DNA changes c.599C>T
cDNA.600C>T
g.183472C>T
AA changes T200M Score: 81 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 200
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      200VAKILLEAGADTTIVNNVLRFSRG
mutated  not conserved    200VAKILLEAGADMTIVNNVLRFSR
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  160AVSLLLEAGADANIKNNTGQTALDKARDNNNREL
Dmelanogaster  not conserved  FBgn0086898  223LTRILLEADARLGIKNAQGDCPMH
Celegans  all conserved  Y47D3A.22  477AIQALVKAGAPSNIID
Xtropicalis  not conserved  ENSXETG00000019116  160VIKVLLEAGADATLLNNAGQIALDTARHHNNSDV
protein features
start (aa)end (aa)featuredetails 
173202REPEATANK 6.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1992 / 1992
position (AA) of stopcodon in wt / mu AA sequence 664 / 664
position of stopcodon in wt / mu cDNA 1993 / 1993
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 2 / 2
chromosome 6
strand 1
last intron/exon boundary 1422
theoretical NMD boundary in CDS 1370
length of CDS 1992
coding sequence (CDS) position 599
cDNA position
(for ins/del: last normal base / first normal base)		 600
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 ACTGGAAGCCGGAGCAGATACGACCATTGTTAACAATGTCT
altered cDNA sequence snippet ACTGGAAGCCGGAGCAGATATGACCATTGTTAACAATGTCT
wildtype AA sequence MSQQDAVAAL SERLLVAAYK GQTENVVQLI NKGARVAVTK HGRTPLHLAA NKGHLPVVQI
LLKAGCDLDV QDDGDQTALH RATVVGNTEI IAALIHEGCA LDRQDKAGNT ALHLACQNSH
SQSTRVLLLA GSRADLKNNA GDTCLHVAAR YNHLSIIRLL LTAFCSVHEK NQAGDTALHV
AAALNHKKVA KILLEAGADT TIVNNVLRFS RGRSLRKKRE RLKEERRAQS VPRDEVAQSK
GSVSAGDTPS SEQAVARKEE AREEFLSASP EPRAKDDRRR KSRPKVSAFS DPTPPADQQP
GHQKNLHAHN HPKKRNRHRC SSPPPPHEFR AYQLYTLYRG KDGKVMQAPI NGCRCEPLIN
KLENQLEATV EEIKAELGSV QDKMNTKLGQ MENKTQHQMR VLDKLMVERL SAERTECLNR
LQQHSDTEKH EGEKRQISLV DELKTWCMLK IQNLEQKLSG DSRACRAKST PSTCVDQLVV
TAGPAAASDS SPPVVRPKEK ALNSTATQRL QQELSSSDCT GSRLRNVKVQ TALLPMNEAA
RSDQQAGPCV NRGTQTKKSG KSGPTRHRAQ QPAASSTCGQ PPPATGSEQT GPHIRDTSQA
LELTQYFFEA VSTQMEKWYE RKIEEARSQA NQKAQQDKAT LKEHIKSLEE ELAKLRTRVQ
KEN*
mutated AA sequence MSQQDAVAAL SERLLVAAYK GQTENVVQLI NKGARVAVTK HGRTPLHLAA NKGHLPVVQI
LLKAGCDLDV QDDGDQTALH RATVVGNTEI IAALIHEGCA LDRQDKAGNT ALHLACQNSH
SQSTRVLLLA GSRADLKNNA GDTCLHVAAR YNHLSIIRLL LTAFCSVHEK NQAGDTALHV
AAALNHKKVA KILLEAGADM TIVNNVLRFS RGRSLRKKRE RLKEERRAQS VPRDEVAQSK
GSVSAGDTPS SEQAVARKEE AREEFLSASP EPRAKDDRRR KSRPKVSAFS DPTPPADQQP
GHQKNLHAHN HPKKRNRHRC SSPPPPHEFR AYQLYTLYRG KDGKVMQAPI NGCRCEPLIN
KLENQLEATV EEIKAELGSV QDKMNTKLGQ MENKTQHQMR VLDKLMVERL SAERTECLNR
LQQHSDTEKH EGEKRQISLV DELKTWCMLK IQNLEQKLSG DSRACRAKST PSTCVDQLVV
TAGPAAASDS SPPVVRPKEK ALNSTATQRL QQELSSSDCT GSRLRNVKVQ TALLPMNEAA
RSDQQAGPCV NRGTQTKKSG KSGPTRHRAQ QPAASSTCGQ PPPATGSEQT GPHIRDTSQA
LELTQYFFEA VSTQMEKWYE RKIEEARSQA NQKAQQDKAT LKEHIKSLEE ELAKLRTRVQ
KEN*
speed 0.84 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