Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999999999995 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM982021)
  • known disease mutation: rs2727 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr11:61723221G>CN/A show variant in all transcripts   IGV
HGNC symbol BEST1
Ensembl transcript ID ENST00000435278
Genbank transcript ID N/A
UniProt peptide O76090
alteration type single base exchange
alteration region CDS
DNA changes c.279G>C
cDNA.392G>C
g.5929G>C
AA changes W93C Score: 215 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 93
frameshift no
known variant Reference ID: rs28940273
Allele 'C' was neither found in ExAC nor 1000G.
known disease mutation: rs2727 (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 CM982021)

known disease mutation at this position, please check HGMD for details (HGMD ID CM982021)
known disease mutation at this position, please check HGMD for details (HGMD ID CM982021)
regulatory features DNase1, Open Chromatin, DNase1 Hypersensitive Site
Gene Associated, Regulatory Feature, Gene associated regulatory feature
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
PolII, Polymerase, RNA Polymerase II
Promoter Associated, Regulatory Feature, Promoter like regulatory feature
TAF1, Transcription Factor, TAF1 Transcription Factor Binding
phyloP / phastCons
PhyloPPhastCons
(flanking)5.7691
5.7691
(flanking)4.7631
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 32
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      93LGFYVTLVVTRWWNQYENLPWPDR
mutated  not conserved    93LGFYVTLVVTRCWNQYENLPWPD
Ptroglodytes  all identical  ENSPTRG00000003756  93LGFYVTLVVTRWWNQYENLPWPD
Mmulatta  all identical  ENSMMUG00000015147  93LGFYVTLVVTRWWNQYENLPWPD
Fcatus  not conserved  ENSFCAG00000007380  123LXXXXXXXXXXXXXXXXXXXXXX
Mmusculus  all identical  ENSMUSG00000037418  93LGFYVTLVVSRWWSQYENLPWPD
Ggallus  all identical  ENSGALG00000007217  93LGFYVSLVVSRWWAQYESIPWPD
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000078331  93LGFYVTLVVSRWWGQFESVPWPD
Dmelanogaster  all identical  FBgn0040238  94LGFYVSIVMTRWWNQYTSIPWPD
Celegans  all identical  C01B12.3  93LGFYVSAVFTRWWQIFDNIGWID
Xtropicalis  all identical  ENSXETG00000006740  93LGFYVTLVVSRWWGQYESVPWPD
protein features
start (aa)end (aa)featuredetails 
92178TOPO_DOMCytoplasmic (Potential).lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 813 / 813
position (AA) of stopcodon in wt / mu AA sequence 271 / 271
position of stopcodon in wt / mu cDNA 926 / 926
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 114 / 114
chromosome 11
strand 1
last intron/exon boundary 828
theoretical NMD boundary in CDS 664
length of CDS 813
coding sequence (CDS) position 279
cDNA position
(for ins/del: last normal base / first normal base)		 392
gDNA position
(for ins/del: last normal base / first normal base)		 5929
chromosomal position
(for ins/del: last normal base / first normal base)		 61723221
original gDNA sequence snippet ACGCTGGTCGTGACCCGCTGGTGGAACCAGTACGAGAACCT
altered gDNA sequence snippet ACGCTGGTCGTGACCCGCTGCTGGAACCAGTACGAGAACCT
original cDNA sequence snippet ACGCTGGTCGTGACCCGCTGGTGGAACCAGTACGAGAACCT
altered cDNA sequence snippet ACGCTGGTCGTGACCCGCTGCTGGAACCAGTACGAGAACCT
wildtype AA sequence MTITYTSQVA NARLGSFSRL LLCWRGSIYK LLYGEFLIFL LCYYIIRFIY RLALTEEQQL
MFEKLTLYCD SYIQLIPISF VLGFYVTLVV TRWWNQYENL PWPDRLMSLV SGFVEGKDEQ
GRLLRRTLIR YANLGNVLIL RSVSTAVYKR FPSAQHLVQA GFMTPAEHKQ LEKLSLPHNM
FWVPWVWFAN LSMKAWLGGR IRDPILLQSL LNEMNTLRTQ CGHLYAYDWI SIPLVYTQPE
QRGDGVPAQS GGRGGCSRWH HWPLPRPAVP *
mutated AA sequence MTITYTSQVA NARLGSFSRL LLCWRGSIYK LLYGEFLIFL LCYYIIRFIY RLALTEEQQL
MFEKLTLYCD SYIQLIPISF VLGFYVTLVV TRCWNQYENL PWPDRLMSLV SGFVEGKDEQ
GRLLRRTLIR YANLGNVLIL RSVSTAVYKR FPSAQHLVQA GFMTPAEHKQ LEKLSLPHNM
FWVPWVWFAN LSMKAWLGGR IRDPILLQSL LNEMNTLRTQ CGHLYAYDWI SIPLVYTQPE
QRGDGVPAQS GGRGGCSRWH HWPLPRPAVP *
speed 0.95 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