Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999999993784 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM000157)
  • known disease mutation: rs16390 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr4:155491615G>AN/A show variant in all transcripts   IGV
HGNC symbol FGB
Ensembl transcript ID ENST00000302068
Genbank transcript ID NM_005141
UniProt peptide P02675
alteration type single base exchange
alteration region CDS
DNA changes c.1289G>A
cDNA.1352G>A
g.7508G>A
AA changes G430D Score: 94 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 430
frameshift no
known variant Reference ID: rs121909622
Allele 'A' was neither found in ExAC nor 1000G.
known disease mutation: rs16390 (pathogenic for Afibrinogenemia, congenital) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM000157)

known disease mutation at this position, please check HGMD for details (HGMD ID CM000157)
known disease mutation at this position, please check HGMD for details (HGMD ID CM000157)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)6.1141
6.1141
(flanking)0.0120.993
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased7504wt: 0.65 / mu: 0.99wt: AAGACGGTGGTGGAT
mu: AAGACGGTGATGGAT		 GACG|gtgg
distance from splice site 45
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      430DPRKQCSKEDGGGWWYNRCHAANP
mutated  not conserved    430RKQCSKEDGDGWWYNRCHAAN
Ptroglodytes  all identical  ENSPTRG00000016534  413RKQCSKEDGGGWWYNRCHAAN
Mmulatta  all identical  ENSMMUG00000021302  430RKQCSKEDGGGWWYNRCHAAN
Fcatus  all identical  ENSFCAG00000013254  429KKQCSKEDGGGWWYNRCHAAN
Mmusculus  all identical  ENSMUSG00000033831  420DPRKQCSKEDGGGWWYNRCHAAN
Ggallus  all identical  ENSGALG00000009262  421GGGWWYNRCHAAN
Trubripes  all identical  ENSTRUG00000002645  435DPSKQCSREDGGGWWYNRCHSSN
Drerio  all identical  ENSDARG00000008969  424CSKEDGGGWWYNRCHSCN
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000022431  430PNKQCSKEDGGGWWYNRCHAAN
protein features
start (aa)end (aa)featuredetails 
232488DOMAINFibrinogen C-terminal.lost
424428TURNmight get lost (downstream of altered splice site)
435437STRANDmight get lost (downstream of altered splice site)
437437DISULFIDmight get lost (downstream of altered splice site)
439441STRANDmight get lost (downstream of altered splice site)
448451STRANDmight get lost (downstream of altered splice site)
454456TURNmight get lost (downstream of altered splice site)
457461STRANDmight get lost (downstream of altered splice site)
464467STRANDmight get lost (downstream of altered splice site)
468471HELIXmight get lost (downstream of altered splice site)
473475STRANDmight get lost (downstream of altered splice site)
478485STRANDmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1476 / 1476
position (AA) of stopcodon in wt / mu AA sequence 492 / 492
position of stopcodon in wt / mu cDNA 1539 / 1539
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 64 / 64
chromosome 4
strand 1
last intron/exon boundary 1308
theoretical NMD boundary in CDS 1194
length of CDS 1476
coding sequence (CDS) position 1289
cDNA position
(for ins/del: last normal base / first normal base)		 1352
gDNA position
(for ins/del: last normal base / first normal base)		 7508
chromosomal position
(for ins/del: last normal base / first normal base)		 155491615
original gDNA sequence snippet GTGTTCTAAAGAAGACGGTGGTGGATGGTGGTATAATAGAT
altered gDNA sequence snippet GTGTTCTAAAGAAGACGGTGATGGATGGTGGTATAATAGAT
original cDNA sequence snippet GTGTTCTAAAGAAGACGGTGGTGGATGGTGGTATAATAGAT
altered cDNA sequence snippet GTGTTCTAAAGAAGACGGTGATGGATGGTGGTATAATAGAT
wildtype AA sequence MKRMVSWSFH KLKTMKHLLL LLLCVFLVKS QGVNDNEEGF FSARGHRPLD KKREEAPSLR
PAPPPISGGG YRARPAKAAA TQKKVERKAP DAGGCLHADP DLGVLCPTGC QLQEALLQQE
RPIRNSVDEL NNNVEAVSQT SSSSFQYMYL LKDLWQKRQK QVKDNENVVN EYSSELEKHQ
LYIDETVNSN IPTNLRVLRS ILENLRSKIQ KLESDVSAQM EYCRTPCTVS CNIPVVSGKE
CEEIIRKGGE TSEMYLIQPD SSVKPYRVYC DMNTENGGWT VIQNRQDGSV DFGRKWDPYK
QGFGNVATNT DGKNYCGLPG EYWLGNDKIS QLTRMGPTEL LIEMEDWKGD KVKAHYGGFT
VQNEANKYQI SVNKYRGTAG NALMDGASQL MGENRTMTIH NGMFFSTYDR DNDGWLTSDP
RKQCSKEDGG GWWYNRCHAA NPNGRYYWGG QYTWDMAKHG TDDGVVWMNW KGSWYSMRKM
SMKIRPFFPQ Q*
mutated AA sequence MKRMVSWSFH KLKTMKHLLL LLLCVFLVKS QGVNDNEEGF FSARGHRPLD KKREEAPSLR
PAPPPISGGG YRARPAKAAA TQKKVERKAP DAGGCLHADP DLGVLCPTGC QLQEALLQQE
RPIRNSVDEL NNNVEAVSQT SSSSFQYMYL LKDLWQKRQK QVKDNENVVN EYSSELEKHQ
LYIDETVNSN IPTNLRVLRS ILENLRSKIQ KLESDVSAQM EYCRTPCTVS CNIPVVSGKE
CEEIIRKGGE TSEMYLIQPD SSVKPYRVYC DMNTENGGWT VIQNRQDGSV DFGRKWDPYK
QGFGNVATNT DGKNYCGLPG EYWLGNDKIS QLTRMGPTEL LIEMEDWKGD KVKAHYGGFT
VQNEANKYQI SVNKYRGTAG NALMDGASQL MGENRTMTIH NGMFFSTYDR DNDGWLTSDP
RKQCSKEDGD GWWYNRCHAA NPNGRYYWGG QYTWDMAKHG TDDGVVWMNW KGSWYSMRKM
SMKIRPFFPQ Q*
speed 1.30 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