Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999991191 (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 CM137879)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr16:89866043T>CN/A show variant in all transcripts   IGV
HGNC symbol FANCA
Ensembl transcript ID ENST00000534992
Genbank transcript ID N/A
UniProt peptide O15360
alteration type single base exchange
alteration region CDS
DNA changes c.796A>G
cDNA.836A>G
g.17023A>G
AA changes T266A Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 266
frameshift no
known variant Reference ID: rs7190823
databasehomozygous (C/C)heterozygousallele carriers
1000G13018562157
ExAC18422-407714345

known disease mutation at this position, please check HGMD for details (HGMD ID CM137879)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.8270.187
0.3290.258
(flanking)0.1410.372
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased17016wt: 0.23 / mu: 0.30wt: GTAACTCACATTCTATTTTGACAGGTCACGGTTGATGTACT
mu: GTAACTCACATTCTATTTTGACAGGTCGCGGTTGATGTACT		 ttga|CAGG
Acc increased17015wt: 0.27 / mu: 0.40wt: GGTAACTCACATTCTATTTTGACAGGTCACGGTTGATGTAC
mu: GGTAACTCACATTCTATTTTGACAGGTCGCGGTTGATGTAC		 tttg|ACAG
Acc marginally increased17013wt: 0.2848 / mu: 0.3080 (marginal change - not scored)wt: ATGGTAACTCACATTCTATTTTGACAGGTCACGGTTGATGT
mu: ATGGTAACTCACATTCTATTTTGACAGGTCGCGGTTGATGT		 attt|TGAC
Acc marginally increased17019wt: 0.9846 / mu: 0.9886 (marginal change - not scored)wt: ACTCACATTCTATTTTGACAGGTCACGGTTGATGTACTGCA
mu: ACTCACATTCTATTTTGACAGGTCGCGGTTGATGTACTGCA		 acag|GTCA
distance from splice site 4
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      266RTVEPEKMPQVTVDVLQRMLIFAL
mutated  not conserved    266RTVEPEKMPQVAVDVLQRMLIFA
Ptroglodytes  not conserved  ENSPTRG00000008492  203RTVEPEKMPQVAVDVLQRMLIFA
Mmulatta  not conserved  ENSMMUG00000029067  266RTVEPEKMPQVAVDVLQRMLIFA
Fcatus  not conserved  ENSFCAG00000003795  262RNVEPEQMGQLAFVVLQRMLIFA
Mmusculus  not conserved  ENSMUSG00000032815  263RLVEPERLPQVATDVLQRMLAFS
Ggallus  not conserved  ENSGALG00000000516  233RKLEFKKVPHICHAVLQRMLTCK
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000033926  179KNLEPNKNKEICLSILD
protein features
start (aa)end (aa)featuredetails 
849849MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
850850MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
858858MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
14491449MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 909 / 909
position (AA) of stopcodon in wt / mu AA sequence 303 / 303
position of stopcodon in wt / mu cDNA 949 / 949
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 41 / 41
chromosome 16
strand -1
last intron/exon boundary 928
theoretical NMD boundary in CDS 837
length of CDS 909
coding sequence (CDS) position 796
cDNA position
(for ins/del: last normal base / first normal base)		 836
gDNA position
(for ins/del: last normal base / first normal base)		 17023
chromosomal position
(for ins/del: last normal base / first normal base)		 89866043
original gDNA sequence snippet ACATTCTATTTTGACAGGTCACGGTTGATGTACTGCAGAGA
altered gDNA sequence snippet ACATTCTATTTTGACAGGTCGCGGTTGATGTACTGCAGAGA
original cDNA sequence snippet CTGAAAAAATGCCGCAGGTCACGGTTGATGTACTGCAGAGA
altered cDNA sequence snippet CTGAAAAAATGCCGCAGGTCGCGGTTGATGTACTGCAGAGA
wildtype AA sequence MSDSWVPNSA SGQDPGGRRR AWAELLAGRV KREKYNPERA QKLKESAVRL LRSHQDLNAL
LLEVEGPLCK KLSLSKVIDC DSSEAYANHS SSFIGSALQD QASRLGVPVG ILSAGMVASS
VGQICTAPAE TSHPVLLTVE QRKKLSSLLE FAQYLLAHSM FSRLSFCQEL WKIQSSLLLE
AVWHLHVQGI VSLQELLESH PDMHAVGSWL FRNLCCLCEQ MEASCQHADV ARAMLSDFVQ
MFVLRGFQKN SDLRRTVEPE KMPQVTVDVL QRMLIFALDA LAAGVQEESS THKIVRASAA
RS*
mutated AA sequence MSDSWVPNSA SGQDPGGRRR AWAELLAGRV KREKYNPERA QKLKESAVRL LRSHQDLNAL
LLEVEGPLCK KLSLSKVIDC DSSEAYANHS SSFIGSALQD QASRLGVPVG ILSAGMVASS
VGQICTAPAE TSHPVLLTVE QRKKLSSLLE FAQYLLAHSM FSRLSFCQEL WKIQSSLLLE
AVWHLHVQGI VSLQELLESH PDMHAVGSWL FRNLCCLCEQ MEASCQHADV ARAMLSDFVQ
MFVLRGFQKN SDLRRTVEPE KMPQVAVDVL QRMLIFALDA LAAGVQEESS THKIVRASAA
RS*
speed 0.94 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