Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 0.999999737866074 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • 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) chr14:105411700A>GN/A show variant in all transcripts   IGV
HGNC symbol AHNAK2
Ensembl transcript ID ENST00000557457
Genbank transcript ID N/A
UniProt peptide Q8IVF2
alteration type single base exchange
alteration region intron
DNA changes g.32995T>C
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs4264326
databasehomozygous (G/G)heterozygousallele carriers
1000G81511922007
ExAC18668-456914099
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.9790
0.4720
(flanking)-1.0180
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites splice site change before start ATG (at aa -72) |
effectgDNA positionscoredetection sequence  exon-intron border
Acc increased32992wt: 0.30 / mu: 0.44wt: CCTCAGCATTCAGCTCCCTTCTGTGGACCTGGAGGTCCAGG
mu: CCTCAGCATTCAGCTCCCTTCTGCGGACCTGGAGGTCCAGG		 cttc|TGTG
Acc marginally increased32997wt: 0.9446 / mu: 0.9458 (marginal change - not scored)wt: GCATTCAGCTCCCTTCTGTGGACCTGGAGGTCCAGGCTGGC
mu: GCATTCAGCTCCCTTCTGCGGACCTGGAGGTCCAGGCTGGC		 gtgg|ACCT
Acc marginally increased32995wt: 0.9595 / mu: 0.9641 (marginal change - not scored)wt: CAGCATTCAGCTCCCTTCTGTGGACCTGGAGGTCCAGGCTG
mu: CAGCATTCAGCTCCCTTCTGCGGACCTGGAGGTCCAGGCTG		 ctgt|GGAC
Acc marginally increased33002wt: 0.2804 / mu: 0.2934 (marginal change - not scored)wt: CAGCTCCCTTCTGTGGACCTGGAGGTCCAGGCTGGCCAGGT
mu: CAGCTCCCTTCTGCGGACCTGGAGGTCCAGGCTGGCCAGGT		 cctg|GAGG
Donor increased32999wt: 0.24 / mu: 0.45wt: GTGGACCTGGAGGTC
mu: GCGGACCTGGAGGTC		 GGAC|ctgg
distance from splice site 4385
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
112193DOMAINPDZ.might get lost (downstream of altered splice site)
280280MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
294294MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
25002500MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
31953195CONFLICTP -> L (in Ref. 4; BAC23115).might get lost (downstream of altered splice site)
31983198CONFLICTA -> V (in Ref. 4; BAC23115).might get lost (downstream of altered splice site)
47404740CONFLICTE -> G (in Ref. 5; CAD98019).might get lost (downstream of altered splice site)
52695269CONFLICTL -> P (in Ref. 5; CAD98019).might get lost (downstream of altered splice site)
55605560CONFLICTD -> G (in Ref. 5; CAD97904).might get lost (downstream of altered splice site)
55775577CONFLICTI -> V (in Ref. 5; CAD97904).might get lost (downstream of altered splice site)
55905590CONFLICTT -> A (in Ref. 5; CAD97981).might get lost (downstream of altered splice site)
56015601CONFLICTD -> G (in Ref. 5; CAD98034).might get lost (downstream of altered splice site)
length of protein N/A
AA sequence altered N/A
position of stopcodon in wt / mu CDS N/A
position (AA) of stopcodon in wt / mu AA sequence N/A
position of stopcodon in wt / mu cDNA N/A
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 245 / 245
chromosome 14
strand -1
last intron/exon boundary 130
theoretical NMD boundary in CDS cannot be calculated, too little distance between start ATG and last intron/exon boundary
length of CDS 2382
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 N/A
gDNA position
(for ins/del: last normal base / first normal base)		 32995
chromosomal position
(for ins/del: last normal base / first normal base)		 105411700
original gDNA sequence snippet CAGCATTCAGCTCCCTTCTGTGGACCTGGAGGTCCAGGCTG
altered gDNA sequence snippet CAGCATTCAGCTCCCTTCTGCGGACCTGGAGGTCCAGGCTG
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MDLPPERDGE KGRSTKPGFA MPKLALPKMK ASKSGVSLPQ RDVDPSLSSA TAGGSFQDTE
KASSDGGRGG LGATASATGS EGVNLHRPQV HIPSLGFAKP DLRSSKAKVE VSQPEADLPL
PKHDLSTEGD SRGCGLGDVP VSQPCGEGIA PTPEDPLQPS CRKPDAEVLT VESPEEEAMT
KYSQESWFKM PKFRMPSLRR SFRDRGGAGK LEVAQTQAPA ATGGEAAAKV KEFLVSGSNV
EAAMSLQLPE ADAEVTASES KSSTDILRCD LDSTGLKLHL STAGMTGDEL STSEVRIHPS
KGPLPFQMPG MRLPETQVLP GEIDETPLSK PGHDLASMED KTEKWSSQPE GPLKLKASST
DMPSQISVVN VDQLWEDSVL TVKFPKLMVP RFSFPAPSSE DDVFIPTVRE VQCPEANIDT
ALCKESPGLW GASILKAGAG VPGEQPVDLN LPLEAPPISK VRVHIQGAQV ESQEVTIHSI
VTPEFVDLSV PRTFSTQIVR ESEIPTSEIQ TPSYGFSLLK VKIPEPHTQA RVYTTMTQHS
RTQEGTEEAP IQATPGVDSI SGDLQPDTGE PFEMISSSVN VLGQQTLTFE VPSGHQLADS
CSDEEPAEIL EFPPDDSQEA TTPLADEGRA PKDKPESKKS GLLWFWLPNI GFSSSVDETG
VDSKNDVQRS APIQTQPEAR PEAELPKKQE KAGWFRFPKL GFSSSPTKKS KSTEDGAELE
EQKLQEETIT FFDARESFSP EEKEEGELIG PVGTGLDSRV MVTSAARTEL ILPEQDRKAD
DESKGSGLGP NEG*
mutated AA sequence N/A
speed 0.41 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