Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: without_aae, prob: 0.999999999999978 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • known disease mutation at this position (HGMD CM063227)
  • known disease mutation at this position (HGMD CM982014)
  • known disease mutation: rs2732 (pathogenic)
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr11:61719294A>CN/A show variant in all transcripts   IGV
HGNC symbol BEST1
Ensembl transcript ID ENST00000301774
Genbank transcript ID N/A
UniProt peptide N/A
alteration type single base exchange
alteration region intron
DNA changes g.2002A>C
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs28940275
Allele 'C' was neither found in ExAC nor 1000G.
known disease mutation: rs2732 (pathogenic for Vitelliform macular dystrophy type 2|not provided) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM982014)

known disease mutation at this position, please check HGMD for details (HGMD ID CM982014)
known disease mutation at this position, please check HGMD for details (HGMD ID CM063227)

known disease mutation at this position, please check HGMD for details (HGMD ID CM982014)
known disease mutation at this position, please check HGMD for details (HGMD ID CM063227)
known disease mutation at this position, please check HGMD for details (HGMD ID CM063227)

known disease mutation at this position, please check HGMD for details (HGMD ID CM982014)
known disease mutation at this position, please check HGMD for details (HGMD ID CM063227)
known disease mutation at this position, please check HGMD for details (HGMD ID CM063227)
known disease mutation at this position, please check HGMD for details (HGMD ID CM982014)
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)3.3611
0.2270.995
(flanking)4.230.995
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 increased2003wt: 0.2677 / mu: 0.3160 (marginal change - not scored)wt: GGCCATGACCATCACTTACACAAGCCAAGTGGCTAATGCCC
mu: GGCCATGACCATCACTTACCCAAGCCAAGTGGCTAATGCCC		 acac|AAGC
distance from splice site 1395
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features N/A
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 756 / 756
chromosome 11
strand 1
last intron/exon boundary 740
theoretical NMD boundary in CDS cannot be calculated, too little distance between start ATG and last intron/exon boundary
length of CDS 879
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)		 2002
chromosomal position
(for ins/del: last normal base / first normal base)		 61719294
original gDNA sequence snippet TGGCCATGACCATCACTTACACAAGCCAAGTGGCTAATGCC
altered gDNA sequence snippet TGGCCATGACCATCACTTACCCAAGCCAAGTGGCTAATGCC
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MEFQPNQEDE EDAHAGIIGR FLGLQSHDHH PPRANSRTKL LWPKRESLLH EGLPKNHKAA
KQNVRGQEDN KAWKLKAVDA FKSAPLYQRP GYYSAPQTPL SPTPMFFPLE PSAPSKLHSV
TGIDTKDKSL KTVSSGAKKS FELLSESDGA LMEHPEVSQV RRKTVEFNLT DMPEIPENHL
KEPLEQSPTN IHTTLKDHMD PYWALENRSV LHLNQGHCIA LCPTPASLAL SLPFLHNFLG
FHHCQSTLDL RPALAWGIYL ATFTGILGKC SGPFLTSPWY HPEDFLGPGE GR*
mutated AA sequence N/A
speed 1.05 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