Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.99999999989887 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr20:17477592C>TN/A show variant in all transcripts   IGV
HGNC symbol BFSP1
Ensembl transcript ID ENST00000536626
Genbank transcript ID N/A
UniProt peptide Q12934
alteration type single base exchange
alteration region CDS
DNA changes c.616G>A
cDNA.1050G>A
g.72274G>A
AA changes G206S Score: 56 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 206
frameshift no
known variant Reference ID: rs6080719
databasehomozygous (T/T)heterozygousallele carriers
1000G2179051122
ExAC91041605070
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.920.008
-0.3240
(flanking)-0.4670
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased72269wt: 0.2206 / mu: 0.2213 (marginal change - not scored)wt: TGGAGTCTCTCTCAGCACTGGATCCGGTGGGAAAGGTAACG
mu: TGGAGTCTCTCTCAGCACTGGATCCAGTGGGAAAGGTAACG		 ctgg|ATCC
Donor marginally increased72278wt: 0.9662 / mu: 0.9858 (marginal change - not scored)wt: CGGTGGGAAAGGTAA
mu: CAGTGGGAAAGGTAA		 GTGG|gaaa
Donor increased72277wt: 0.86 / mu: 0.95wt: CCGGTGGGAAAGGTA
mu: CCAGTGGGAAAGGTA		 GGTG|ggaa
Donor increased72276wt: 0.25 / mu: 0.65wt: TCCGGTGGGAAAGGT
mu: TCCAGTGGGAAAGGT		 CGGT|ggga
Donor gained722740.40mu: GATCCAGTGGGAAAG TCCA|gtgg
distance from splice site 10
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      206QSHGVSLSTGSGGKDLTRALQDIT
mutated  not conserved    206QSHGVSLSTGSSGKDLTRALQDI
Ptroglodytes  all identical  ENSPTRG00000013274  345QSHGVSLSTGSGGKDLTRALQDI
Mmulatta  all identical  ENSMMUG00000014632  345QSHGVSLSTGSGGKDLTRALQDI
Fcatus  all identical  ENSFCAG00000011358  219PSHGTFLSSRLGGK
Mmusculus  not conserved  ENSMUSG00000027420  343PSHGAPLSLGSSVKDLARAVQDI
Ggallus  not conserved  ENSGALG00000008735  343QIYRPVQPQASRGRDITQAMQEI
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000074919  346SGYKYTHSLSMTRTGKDITQVIQDI
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
41320REGIONRod.lost
202320REGIONCoil 2.lost
248248CONFLICTT -> A (in Ref. 5; AAA74423).might get lost (downstream of altered splice site)
321665REGIONTail.might get lost (downstream of altered splice site)
398398CONFLICTK -> R (in Ref. 1; AAB94939).might get lost (downstream of altered splice site)
568568CONFLICTE -> G (in Ref. 1; AAB94939).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1581 / 1581
position (AA) of stopcodon in wt / mu AA sequence 527 / 527
position of stopcodon in wt / mu cDNA 2015 / 2015
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 435 / 435
chromosome 20
strand -1
last intron/exon boundary 1060
theoretical NMD boundary in CDS 575
length of CDS 1581
coding sequence (CDS) position 616
cDNA position
(for ins/del: last normal base / first normal base)		 1050
gDNA position
(for ins/del: last normal base / first normal base)		 72274
chromosomal position
(for ins/del: last normal base / first normal base)		 17477592
original gDNA sequence snippet TCTCTCTCAGCACTGGATCCGGTGGGAAAGGTAACGCTCCC
altered gDNA sequence snippet TCTCTCTCAGCACTGGATCCAGTGGGAAAGGTAACGCTCCC
original cDNA sequence snippet TCTCTCTCAGCACTGGATCCGGTGGGAAAGATCTTACCAGA
altered cDNA sequence snippet TCTCTCTCAGCACTGGATCCAGTGGGAAAGATCTTACCAGA
wildtype AA sequence MLERLNKEAD EALLHNLRLQ LEAQFLQDDI SAAKDRHKKN LLEVQTYISI LQQIIHTTPP
ASIVTSGMRE EKLLTEREVA ALRSQLEEGR EVLSHLQAQR VELQAQTTTL EQAIKSAHEC
YDDEIQLYNE QIETLRKEIE ETERVLEKSS YDCRQLAVAQ QTLKNELDRY HRIIEIEGNR
LTSAFIETPI PLFTQSHGVS LSTGSGGKDL TRALQDITAA KPRQKALPKN VPRRKEIITK
DKTNGALEDA PLKGLEDTKL VQVVLKEESE SKFESESKEV SPLTQEGAPE DVPDGGQISK
GFGKLYRKVK EKVRSPKEPE TPTELYTKER HVLVTGDANY VDPRFYVSSI TAKGGVAVSV
AEDSVLYDGQ VEPSPESPKP PLENGQVGLQ EKEDGQPIDQ QPIDKEIEPD GAELEGPEEK
REGEERDEES RRPCAMVTPG AEEPSIPEPP KPAADQDGAE VLGTRSRSLP EKGPPKALAY
KTVEVVESIE KISTESIQTY EETAVIVETM IGKTKSDKKK SGEKSS*
mutated AA sequence MLERLNKEAD EALLHNLRLQ LEAQFLQDDI SAAKDRHKKN LLEVQTYISI LQQIIHTTPP
ASIVTSGMRE EKLLTEREVA ALRSQLEEGR EVLSHLQAQR VELQAQTTTL EQAIKSAHEC
YDDEIQLYNE QIETLRKEIE ETERVLEKSS YDCRQLAVAQ QTLKNELDRY HRIIEIEGNR
LTSAFIETPI PLFTQSHGVS LSTGSSGKDL TRALQDITAA KPRQKALPKN VPRRKEIITK
DKTNGALEDA PLKGLEDTKL VQVVLKEESE SKFESESKEV SPLTQEGAPE DVPDGGQISK
GFGKLYRKVK EKVRSPKEPE TPTELYTKER HVLVTGDANY VDPRFYVSSI TAKGGVAVSV
AEDSVLYDGQ VEPSPESPKP PLENGQVGLQ EKEDGQPIDQ QPIDKEIEPD GAELEGPEEK
REGEERDEES RRPCAMVTPG AEEPSIPEPP KPAADQDGAE VLGTRSRSLP EKGPPKALAY
KTVEVVESIE KISTESIQTY EETAVIVETM IGKTKSDKKK SGEKSS*
speed 0.43 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