Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 1.06882835036713e-07 (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) chr17:33286664A>GN/A show variant in all transcripts   IGV
HGNC symbol CCT6B
Ensembl transcript ID ENST00000421975
Genbank transcript ID NM_001193529
UniProt peptide Q92526
alteration type single base exchange
alteration region CDS
DNA changes c.143T>C
cDNA.152T>C
g.21434T>C
AA changes V48A Score: 64 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 48
frameshift no
known variant Reference ID: rs2230552
databasehomozygous (G/G)heterozygousallele carriers
1000G2749091183
ExAC43332097825311
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.8021
3.8311
(flanking)3.1021
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 increased21428wt: 0.7441 / mu: 0.8133 (marginal change - not scored)wt: ATATCATTCTTCTCTGAACAGGCTTGTTTCTGGTGCAGGTG
mu: ATATCATTCTTCTCTGAACAGGCTTGCTTCTGGTGCAGGTG		 acag|GCTT
Acc marginally increased21427wt: 0.7357 / mu: 0.7651 (marginal change - not scored)wt: AATATCATTCTTCTCTGAACAGGCTTGTTTCTGGTGCAGGT
mu: AATATCATTCTTCTCTGAACAGGCTTGCTTCTGGTGCAGGT		 aaca|GGCT
Acc increased21426wt: 0.45 / mu: 0.56wt: TAATATCATTCTTCTCTGAACAGGCTTGTTTCTGGTGCAGG
mu: TAATATCATTCTTCTCTGAACAGGCTTGCTTCTGGTGCAGG		 gaac|AGGC
Donor increased21439wt: 0.22 / mu: 0.34wt: TTTCTGGTGCAGGTG
mu: CTTCTGGTGCAGGTG		 TCTG|gtgc
distance from splice site 6
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      48NLGPKGTMKMLVSGAGDIKLTKDG
mutated  not conserved    48NLGPKGTMKMLASGAGDIKLTKD
Ptroglodytes  all identical  ENSPTRG00000023221  48NLGPKGTMKMLVSGAGDIKLTKD
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000020698  48TLGPKGALKMLVSGAGDIKLTKD
Ggallus  all identical  ENSGALG00000002448  47NLGPKGTMKMLVSGAGDIKLTKD
Trubripes  all identical  ENSTRUG00000010228  48NLGPKGTLKMLVSGAGDIKLTKD
Drerio  all identical  ENSDARG00000021252  48NLGPKGTMKMLVSGAGDIKLTKD
Dmelanogaster  all identical  FBgn0027329  48NLGPKGTVKMLVSGAGDIKITKD
Celegans  all identical  F01F1.8  48NLGPKGTLKMLVSGAGDIKLTKD
Xtropicalis  all identical  ENSXETG00000010077  48NLGPKGTMKMLVSGAGDIKLTKD
protein features
start (aa)end (aa)featuredetails 
8686CONFLICTD -> G (in Ref. 1; BAA11347).might get lost (downstream of altered splice site)
9494CONFLICTS -> T (in Ref. 1; BAA11347).might get lost (downstream of altered splice site)
176178CONFLICTVLA -> LFP (in Ref. 1; BAA11347).might get lost (downstream of altered splice site)
183183CONFLICTG -> P (in Ref. 1; BAA11347).might get lost (downstream of altered splice site)
295295MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
529530CONFLICTLK -> QMMIEFKINPSRR (in Ref. 1; BAA11347).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1482 / 1482
position (AA) of stopcodon in wt / mu AA sequence 494 / 494
position of stopcodon in wt / mu cDNA 1491 / 1491
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 10 / 10
chromosome 17
strand -1
last intron/exon boundary 1422
theoretical NMD boundary in CDS 1362
length of CDS 1482
coding sequence (CDS) position 143
cDNA position
(for ins/del: last normal base / first normal base)		 152
gDNA position
(for ins/del: last normal base / first normal base)		 21434
chromosomal position
(for ins/del: last normal base / first normal base)		 33286664
original gDNA sequence snippet TTCTTCTCTGAACAGGCTTGTTTCTGGTGCAGGTGACATCA
altered gDNA sequence snippet TTCTTCTCTGAACAGGCTTGCTTCTGGTGCAGGTGACATCA
original cDNA sequence snippet AGGCACCATGAAAATGCTTGTTTCTGGTGCAGGTGACATCA
altered cDNA sequence snippet AGGCACCATGAAAATGCTTGCTTCTGGTGCAGGTGACATCA
wildtype AA sequence MAAIKAVNSK AEVARARAAL AVNICAARGL QDVLRTNLGP KGTMKMLVSG AGDIKLTKDG
NVLLDEMQIQ HPTASLIAKV ATAQDDVTGD GTTSNVLIIG ELLKQADLYI SEGLHPRIIA
EGFEAAKIKA LEVLEEVKVT KEMKRKILLD VARTSLQTKV HAELADVLTE VVVDSVLAVR
RPGYPIDLFM VEIMEMKHKL GTDTKEVNSG FFYKTAEEKE KLVKAERKFI EDRVQKIIDL
KDKVCAQSNK GFVVINQKGI DPFSLDSLAK HGIVALRRAK RRNMERLSLA CGGMAVNSFE
DLTVDCLGHA GLVYEYTLGE EKFTFIEECV NPCSVTLLVK GPNKHTLTQV KDAIRDGLRA
IKNAIEDGCM VPGAGAIEVA MAEALVTYKN SIKGRARLGV QAFADALLII PKVLAQNAGY
DPQETLVKVQ AEHVESKQLV GVDLNTGEPM VAADAGVWDN YCVKKQLLHS CTVIATNILL
VDEIMRAGMS SLK*
mutated AA sequence MAAIKAVNSK AEVARARAAL AVNICAARGL QDVLRTNLGP KGTMKMLASG AGDIKLTKDG
NVLLDEMQIQ HPTASLIAKV ATAQDDVTGD GTTSNVLIIG ELLKQADLYI SEGLHPRIIA
EGFEAAKIKA LEVLEEVKVT KEMKRKILLD VARTSLQTKV HAELADVLTE VVVDSVLAVR
RPGYPIDLFM VEIMEMKHKL GTDTKEVNSG FFYKTAEEKE KLVKAERKFI EDRVQKIIDL
KDKVCAQSNK GFVVINQKGI DPFSLDSLAK HGIVALRRAK RRNMERLSLA CGGMAVNSFE
DLTVDCLGHA GLVYEYTLGE EKFTFIEECV NPCSVTLLVK GPNKHTLTQV KDAIRDGLRA
IKNAIEDGCM VPGAGAIEVA MAEALVTYKN SIKGRARLGV QAFADALLII PKVLAQNAGY
DPQETLVKVQ AEHVESKQLV GVDLNTGEPM VAADAGVWDN YCVKKQLLHS CTVIATNILL
VDEIMRAGMS SLK*
speed 1.17 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