Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999999415106 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM044951)
  • known disease mutation: rs2744 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr11:61723198G>AN/A show variant in all transcripts   IGV
HGNC symbol BEST1
Ensembl transcript ID ENST00000378043
Genbank transcript ID NM_004183
UniProt peptide O76090
alteration type single base exchange
alteration region CDS
DNA changes c.256G>A
cDNA.899G>A
g.5906G>A
AA changes V86M Score: 21 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 86
frameshift no
known variant Reference ID: rs121918289
Allele 'A' was neither found in ExAC nor 1000G.
known disease mutation: rs2744 (pathogenic for Retinal dystrophy|Vitreoretinochoroidopathy) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM044951)

known disease mutation at this position, please check HGMD for details (HGMD ID CM044951)
known disease mutation at this position, please check HGMD for details (HGMD ID CM044951)
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
Promoter Associated, Regulatory Feature, Promoter like regulatory feature
phyloP / phastCons
PhyloPPhastCons
(flanking)0.6951
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 9
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      86LIPISFVLGFYVTLVVTRWWNQYE
mutated  all conserved    86LIPISFVLGFYMTLVVTRWWNQY
Ptroglodytes  all identical  ENSPTRG00000003756  86LIPISFVLGFYVTLVVTRWWNQY
Mmulatta  all identical  ENSMMUG00000015147  86LIPISFVLGFYVTLVVTRWWNQY
Fcatus  not conserved  ENSFCAG00000007380  116LIPISFVLXXXXXXXXXXXXXXX
Mmusculus  all identical  ENSMUSG00000037418  86LIPISFVLGFYVTLVVSRWWSQY
Ggallus  all identical  ENSGALG00000007217  86LIPVSFVLGFYVSLVVSRWWAQY
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000078331  86LIPVSFVLGFYVTLVVSRWWGQF
Dmelanogaster  all identical  FBgn0040238  87LIPLSFVLGFYVSIVMTRWWNQY
Celegans  all identical  C01B12.3  86FIPITFMLGFYVSAVFTRWWQIF
Xtropicalis  all identical  ENSXETG00000006740  86LIPVSFVLGFYVTLVVSRWWGQY
protein features
start (aa)end (aa)featuredetails 
7191TRANSMEMHelical; (Potential).lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1758 / 1758
position (AA) of stopcodon in wt / mu AA sequence 586 / 586
position of stopcodon in wt / mu cDNA 2401 / 2401
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 644 / 644
chromosome 11
strand 1
last intron/exon boundary 2383
theoretical NMD boundary in CDS 1689
length of CDS 1758
coding sequence (CDS) position 256
cDNA position
(for ins/del: last normal base / first normal base)		 899
gDNA position
(for ins/del: last normal base / first normal base)		 5906
chromosomal position
(for ins/del: last normal base / first normal base)		 61723198
original gDNA sequence snippet CCTCCTGCCCAGGCTTCTACGTGACGCTGGTCGTGACCCGC
altered gDNA sequence snippet CCTCCTGCCCAGGCTTCTACATGACGCTGGTCGTGACCCGC
original cDNA sequence snippet CCTTCGTGCTGGGCTTCTACGTGACGCTGGTCGTGACCCGC
altered cDNA sequence snippet CCTTCGTGCTGGGCTTCTACATGACGCTGGTCGTGACCCGC
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 SIPLVYTQVV
TVAVYSFFLT CLVGRQFLNP AKAYPGHELD LVVPVFTFLQ FFFYVGWLKV AEQLINPFGE
DDDDFETNWI VDRNLQVSLL AVDEMHQDLP RMEPDMYWNK PEPQPPYTAA SAQFRRASFM
GSTFNISLNK EEMEFQPNQE DEEDAHAGII GRFLGLQSHD HHPPRANSRT KLLWPKRESL
LHEGLPKNHK AAKQNVRGQE DNKAWKLKAV DAFKSAPLYQ RPGYYSAPQT PLSPTPMFFP
LEPSAPSKLH SVTGIDTKDK SLKTVSSGAK KSFELLSESD GALMEHPEVS QVRRKTVEFN
LTDMPEIPEN HLKEPLEQSP TNIHTTLKDH MDPYWALENR DEAHS*
mutated AA sequence MTITYTSQVA NARLGSFSRL LLCWRGSIYK LLYGEFLIFL LCYYIIRFIY RLALTEEQQL
MFEKLTLYCD SYIQLIPISF VLGFYMTLVV TRWWNQYENL PWPDRLMSLV SGFVEGKDEQ
GRLLRRTLIR YANLGNVLIL RSVSTAVYKR FPSAQHLVQA GFMTPAEHKQ LEKLSLPHNM
FWVPWVWFAN LSMKAWLGGR IRDPILLQSL LNEMNTLRTQ CGHLYAYDWI SIPLVYTQVV
TVAVYSFFLT CLVGRQFLNP AKAYPGHELD LVVPVFTFLQ FFFYVGWLKV AEQLINPFGE
DDDDFETNWI VDRNLQVSLL AVDEMHQDLP RMEPDMYWNK PEPQPPYTAA SAQFRRASFM
GSTFNISLNK EEMEFQPNQE DEEDAHAGII GRFLGLQSHD HHPPRANSRT KLLWPKRESL
LHEGLPKNHK AAKQNVRGQE DNKAWKLKAV DAFKSAPLYQ RPGYYSAPQT PLSPTPMFFP
LEPSAPSKLH SVTGIDTKDK SLKTVSSGAK KSFELLSESD GALMEHPEVS QVRRKTVEFN
LTDMPEIPEN HLKEPLEQSP TNIHTTLKDH MDPYWALENR DEAHS*
speed 1.23 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