Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: without_aae, prob: 1.64248094990322e-05 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • known disease mutation at this position (HGMD CM033071)
  • known disease mutation: rs2743 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr11:61719400T>CN/A show variant in all transcripts   IGV
HGNC symbol BEST1
Ensembl transcript ID ENST00000534553
Genbank transcript ID N/A
UniProt peptide O76090
alteration type single base exchange
alteration region intron
DNA changes g.2108T>C
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs121918288
databasehomozygous (C/C)heterozygousallele carriers
1000G---
ExAC011

known disease mutation: rs2743 (pathogenic for Bestrophinopathy, autosomal recessive|not provided) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM033071)

known disease mutation at this position, please check HGMD for details (HGMD ID CM033071)
known disease mutation at this position, please check HGMD for details (HGMD ID CM033071)
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.9770
1.4360.002
(flanking)-0.1810
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites splice site change before start ATG (at aa -69) |
effectgDNA positionscoredetection sequence  exon-intron border
Acc increased2112wt: 0.33 / mu: 0.39wt: TTCTTAATCTTCCTGCTCTGCTACTACATCATCCGCTTTAT
mu: TTCTTAATCTTCCTGCCCTGCTACTACATCATCCGCTTTAT		 ctgc|TACT
Acc increased2105wt: 0.57 / mu: 0.66wt: TGGCGAGTTCTTAATCTTCCTGCTCTGCTACTACATCATCC
mu: TGGCGAGTTCTTAATCTTCCTGCCCTGCTACTACATCATCC		 tcct|GCTC
Acc marginally increased2109wt: 0.5853 / mu: 0.6336 (marginal change - not scored)wt: GAGTTCTTAATCTTCCTGCTCTGCTACTACATCATCCGCTT
mu: GAGTTCTTAATCTTCCTGCCCTGCTACTACATCATCCGCTT		 gctc|TGCT
distance from splice site 1501
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
125TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
2646TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
4770TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
7191TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
92178TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
179199TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
200228TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
229249INTRAMEMPotential.might get lost (downstream of altered splice site)
250270TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
271291TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
292585TOPO_DOMCytoplasmic (Potential).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 577 / 577
chromosome 11
strand 1
last intron/exon boundary 740
theoretical NMD boundary in CDS 113
length of CDS 168
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)		 2108
chromosomal position
(for ins/del: last normal base / first normal base)		 61719400
original gDNA sequence snippet CGAGTTCTTAATCTTCCTGCTCTGCTACTACATCATCCGCT
altered gDNA sequence snippet CGAGTTCTTAATCTTCCTGCCCTGCTACTACATCATCCGCT
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MSLVSGFVEG KDEQGRLLRR TLIRYANLGN VLILRSVSTA VYKRFPSAQH LVQAA*
mutated AA sequence N/A
speed 1.07 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