Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 4.8099573093386e-11 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • 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) chr2:188343497T>CN/A show variant in all transcripts   IGV
HGNC symbol TFPI
Ensembl transcript ID ENST00000233156
Genbank transcript ID NM_006287
UniProt peptide P10646
alteration type single base exchange
alteration region intron
DNA changes g.86991A>G
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs7586970
databasehomozygous (C/C)heterozygousallele carriers
1000G20410031207
ExAC54652183727302
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.020.998
1.3941
(flanking)1.3241
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased86985wt: 0.32 / mu: 0.98wt: TGGTTGGAAGAATGC
mu: TGGTTGGAAGAGTGC		 GTTG|gaag
distance from splice site 5354
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
215219STRANDmight get lost (downstream of altered splice site)
217217DISULFIDmight get lost (downstream of altered splice site)
217267DOMAINBPTI/Kunitz inhibitor 3.might get lost (downstream of altered splice site)
224226STRANDmight get lost (downstream of altered splice site)
226226DISULFIDmight get lost (downstream of altered splice site)
227227MUTAGENR->L: Abolishes inhibition of VII(a)/TF.might get lost (downstream of altered splice site)
227228SITEReactive bond.might get lost (downstream of altered splice site)
232235STRANDmight get lost (downstream of altered splice site)
237239TURNmight get lost (downstream of altered splice site)
241245STRANDmight get lost (downstream of altered splice site)
242242DISULFIDmight get lost (downstream of altered splice site)
250250DISULFIDmight get lost (downstream of altered splice site)
256256SITENot glycosylated.might get lost (downstream of altered splice site)
257260STRANDmight get lost (downstream of altered splice site)
261267HELIXmight get lost (downstream of altered splice site)
263263DISULFIDmight get lost (downstream of altered splice site)
267267DISULFIDmight get lost (downstream of altered splice site)
length of protein N/A
AA sequence altered N/A
position of stopcodon in wt / mu CDS N/A
position (AA) of stopcodon in wt / mu AA sequence N/A
position of stopcodon in wt / mu cDNA N/A
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 296 / 296
chromosome 2
strand -1
last intron/exon boundary 1104
theoretical NMD boundary in CDS 758
length of CDS 915
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 N/A
gDNA position
(for ins/del: last normal base / first normal base)		 86991
chromosomal position
(for ins/del: last normal base / first normal base)		 188343497
original gDNA sequence snippet AACAAATGATGGTTGGAAGAATGCGGCTCATATTTACCAAG
altered gDNA sequence snippet AACAAATGATGGTTGGAAGAGTGCGGCTCATATTTACCAAG
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MIYTMKKVHA LWASVCLLLN LAPAPLNADS EEDEEHTIIT DTELPPLKLM HSFCAFKADD
GPCKAIMKRF FFNIFTRQCE EFIYGGCEGN QNRFESLEEC KKMCTRDNAN RIIKTTLQQE
KPDFCFLEED PGICRGYITR YFYNNQTKQC ERFKYGGCLG NMNNFETLEE CKNICEDGPN
GFQVDNYGTQ LNAVNNSLTP QSTKVPSLFE FHGPSWCLTP ADRGLCRANE NRFYYNSVIG
KCRPFKYSGC GGNENNFTSK QECLRACKKG FIQRISKGGL IKTKRKRKKQ RVKIAYEEIF
VKNM*
mutated AA sequence N/A
speed 0.69 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