Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999999613727 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM982025)
  • known disease mutation: rs2731 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr11:61724901T>AN/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.679T>A
cDNA.792T>A
g.7609T>A
AA changes Y227N Score: 142 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 227
frameshift no
known variant Reference ID: rs28941469
Allele 'A' was neither found in ExAC nor 1000G.
known disease mutation: rs2731 (pathogenic for Retinal dystrophy|Vitelliform macular dystrophy type 2|not provided) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM982025)

known disease mutation at this position, please check HGMD for details (HGMD ID CM982025)
known disease mutation at this position, please check HGMD for details (HGMD ID CM982025)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.9071
4.9051
(flanking)4.9051
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained76130.38mu: CAACGACTGGATTAG ACGA|ctgg
Donor gained76050.98mu: CTGTATGCCAACGAC GTAT|gcca
distance from splice site 36
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      227TLRTQCGHLYAYDWISIPLVYTQP
mutated  not conserved    227TLRTQCGHLYANDWISIPLVYTQ
Ptroglodytes  all identical  ENSPTRG00000003756  227TLRTQCGHLYAYDWISIPLVYTQ
Mmulatta  all identical  ENSMMUG00000015147  227TLRTQCGHLYAYDWISIPLVYTQ
Fcatus  all identical  ENSFCAG00000007380  257VLRTQCGLLFAYDWISIPLVYTQ
Mmusculus  all identical  ENSMUSG00000037418  227TLRTQCGQLYAYDWISIPLVYTQ
Ggallus  all identical  ENSGALG00000007217  227TLRSQCGRLYGYDWISIPLVYTQ
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000078331  227TLRSQCMRLYGYDWISLPLVYTQ
Dmelanogaster  all identical  FBgn0040238  229KFRGQCGLLISYDTISVPLVY
Celegans  all conserved  C01B12.3  227QFRVNILSLTLFDWVPVPLVYTQ
Xtropicalis  all identical  ENSXETG00000006740  227SLRTQCGRLYGYDWISVPLVYTQ
protein features
start (aa)end (aa)featuredetails 
200228TOPO_DOMExtracellular (Potential).lost
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 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 679
cDNA position
(for ins/del: last normal base / first normal base)		 792
gDNA position
(for ins/del: last normal base / first normal base)		 7609
chromosomal position
(for ins/del: last normal base / first normal base)		 61724901
original gDNA sequence snippet AGTGTGGACACCTGTATGCCTACGACTGGATTAGTATCCCA
altered gDNA sequence snippet AGTGTGGACACCTGTATGCCAACGACTGGATTAGTATCCCA
original cDNA sequence snippet AGTGTGGACACCTGTATGCCTACGACTGGATTAGTATCCCA
altered cDNA sequence snippet AGTGTGGACACCTGTATGCCAACGACTGGATTAGTATCCCA
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 TRWWNQYENL PWPDRLMSLV SGFVEGKDEQ
GRLLRRTLIR YANLGNVLIL RSVSTAVYKR FPSAQHLVQA GFMTPAEHKQ LEKLSLPHNM
FWVPWVWFAN LSMKAWLGGR IRDPILLQSL LNEMNTLRTQ CGHLYANDWI SIPLVYTQPE
QRGDGVPAQS GGRGGCSRWH HWPLPRPAVP *
speed 0.97 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