Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.0250474450178547 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM066072)
  • protein features (might be) affected
  • splice site changes
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analysed issue analysis result
name of alteration no title
alteration (phys. location) chr1:16096934C>TN/A show variant in all transcripts   IGV
HGNC symbol FBLIM1
Ensembl transcript ID ENST00000375771
Genbank transcript ID N/A
UniProt peptide Q8WUP2
alteration type single base exchange
alteration region CDS
DNA changes c.572C>T
cDNA.1015C>T
g.13833C>T
AA changes S191F Score: 155 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 191
frameshift no
known variant Reference ID: rs10927851
databasehomozygous (T/T)heterozygousallele carriers
1000G11139912104
ExAC28677-245874090

known disease mutation at this position, please check HGMD for details (HGMD ID CM066072)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.8421
3.7191
(flanking)0.2060.998
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased13842wt: 0.55 / mu: 0.68wt: CAAGACCGTGTCCCCCCGAGAGCTGGCTGTGGAGGCCATGA
mu: CAAGACCGTGTTCCCCCGAGAGCTGGCTGTGGAGGCCATGA		 gaga|GCTG
Acc marginally increased13824wt: 0.9559 / mu: 0.9560 (marginal change - not scored)wt: CATCTGTGCCTTCTGCCACAAGACCGTGTCCCCCCGAGAGC
mu: CATCTGTGCCTTCTGCCACAAGACCGTGTTCCCCCGAGAGC		 acaa|GACC
Acc marginally increased13840wt: 0.2208 / mu: 0.2454 (marginal change - not scored)wt: CACAAGACCGTGTCCCCCCGAGAGCTGGCTGTGGAGGCCAT
mu: CACAAGACCGTGTTCCCCCGAGAGCTGGCTGTGGAGGCCAT		 ccga|GAGC
distance from splice site 31
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      191TDICAFCHKTVSPRELAVEAMKRQ
mutated  not conserved    191DICAFCHKTVFPRELAVEAMKR
Ptroglodytes  no homologue    
Mmulatta  all identical  ENSMMUG00000032243  193TDICAFCHKTVSPRELAVEAMKR
Fcatus  all identical  ENSFCAG00000011590  189TDVCAFCHKTVSPRELAVEAMKR
Mmusculus  all identical  ENSMUSG00000006219  192TDVCGFCHKPVSPRELAVEAMKR
Ggallus  not conserved  ENSGALG00000003636  173TDICAFCHKAVGPREPTVEAMRK
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  all conserved  F42G4.3  419NICVGCGKEITGDQPGCNAMNQ
Xtropicalis  not conserved  ENSXETG00000031940  129TSHHAPLTNDICAFCHKAIPSNTA
protein features
start (aa)end (aa)featuredetails 
181242DOMAINLIM zinc-binding 1.lost
243300DOMAINLIM zinc-binding 2.might get lost (downstream of altered splice site)
276373REGIONPLEKHC1-binding.might get lost (downstream of altered splice site)
301370DOMAINLIM zinc-binding 3.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1122 / 1122
position (AA) of stopcodon in wt / mu AA sequence 374 / 374
position of stopcodon in wt / mu cDNA 1565 / 1565
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 444 / 444
chromosome 1
strand 1
last intron/exon boundary 1452
theoretical NMD boundary in CDS 958
length of CDS 1122
coding sequence (CDS) position 572
cDNA position
(for ins/del: last normal base / first normal base)		 1015
gDNA position
(for ins/del: last normal base / first normal base)		 13833
chromosomal position
(for ins/del: last normal base / first normal base)		 16096934
original gDNA sequence snippet CTTCTGCCACAAGACCGTGTCCCCCCGAGAGCTGGCTGTGG
altered gDNA sequence snippet CTTCTGCCACAAGACCGTGTTCCCCCGAGAGCTGGCTGTGG
original cDNA sequence snippet CTTCTGCCACAAGACCGTGTCCCCCCGAGAGCTGGCTGTGG
altered cDNA sequence snippet CTTCTGCCACAAGACCGTGTTCCCCCGAGAGCTGGCTGTGG
wildtype AA sequence MASKPEKRVA SSVFITLAPP RRDVAVAEEV RQAVCEARRG RPWEAPAPMK TPEAGLAGRP
SPWTTPGRAA ATVPAAPMQL FNGGCPPPPP VLDGEDVLPD LDLLPPPPPP PPVLLPSEEE
APAPMGASLI ADLEQLHLSP PPPPPQAPAE GPSVQPGPLR PMEEELPPPP AEPVEKGAST
DICAFCHKTV SPRELAVEAM KRQYHAQCFT CRTCRRQLAG QSFYQKDGRP LCEPCYQDTL
ERCGKCGEVV RDHIIRALGQ AFHPSCFTCV TCARCIGDES FALGSQNEVY CLDDFYRKFA
PVCSICENPI IPRDGKDAFK IECMGRNFHE NCYRCEDCRI LLSVEPTDQG CYPLNNHLFC
KPCHVKRSAA GCC*
mutated AA sequence MASKPEKRVA SSVFITLAPP RRDVAVAEEV RQAVCEARRG RPWEAPAPMK TPEAGLAGRP
SPWTTPGRAA ATVPAAPMQL FNGGCPPPPP VLDGEDVLPD LDLLPPPPPP PPVLLPSEEE
APAPMGASLI ADLEQLHLSP PPPPPQAPAE GPSVQPGPLR PMEEELPPPP AEPVEKGAST
DICAFCHKTV FPRELAVEAM KRQYHAQCFT CRTCRRQLAG QSFYQKDGRP LCEPCYQDTL
ERCGKCGEVV RDHIIRALGQ AFHPSCFTCV TCARCIGDES FALGSQNEVY CLDDFYRKFA
PVCSICENPI IPRDGKDAFK IECMGRNFHE NCYRCEDCRI LLSVEPTDQG CYPLNNHLFC
KPCHVKRSAA GCC*
speed 0.70 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