Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.983792816424307 (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 CM051922)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr9:137779026C>TN/A show variant in all transcripts   IGV
HGNC symbol FCN2
Ensembl transcript ID ENST00000291744
Genbank transcript ID NM_004108
UniProt peptide Q15485
alteration type single base exchange
alteration region CDS
DNA changes c.707C>T
cDNA.717C>T
g.6373C>T
AA changes T236M Score: 81 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 236
frameshift no
known variant Reference ID: rs17549193
databasehomozygous (T/T)heterozygousallele carriers
1000G1818841065
ExAC44412296027401

known disease mutation at this position, please check HGMD for details (HGMD ID CM051922)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.5030.654
0.6660.377
(flanking)-3.9450
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 13
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      236AFVEGSAGDSLTFHNNQSFSTKDQ
mutated  not conserved    236AFVEGSAGDSLMFHNN
Ptroglodytes  all identical  ENSPTRG00000021530  236AFVEGSAGDSLTFHNN
Mmulatta  all identical  ENSMMUG00000014403  236AFVEGSAGDSLTSHNN
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000026835  237NFLGGGAGDSLTPHNNRLFSTKD
Ggallus  all conserved  ENSGALG00000009151  237DFLGGNAGDSLSYHKDMSFSTAD
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  not conserved  FBgn0033312  255RTHDKMKFSTYD
Celegans  all identical  D1009.3  355ITEEGVG--NLTYNGVDPF
Xtropicalis  not conserved  ENSXETG00000008638  244AYSGGTAGDSLNHH
protein features
start (aa)end (aa)featuredetails 
96313DOMAINFibrinogen C-terminal.lost
236238HELIXlost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 942 / 942
position (AA) of stopcodon in wt / mu AA sequence 314 / 314
position of stopcodon in wt / mu cDNA 952 / 952
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 11 / 11
chromosome 9
strand 1
last intron/exon boundary 705
theoretical NMD boundary in CDS 644
length of CDS 942
coding sequence (CDS) position 707
cDNA position
(for ins/del: last normal base / first normal base)		 717
gDNA position
(for ins/del: last normal base / first normal base)		 6373
chromosomal position
(for ins/del: last normal base / first normal base)		 137779026
original gDNA sequence snippet CTGCACAGGAGATTCCCTGACGTTCCACAACAACCAGTCCT
altered gDNA sequence snippet CTGCACAGGAGATTCCCTGATGTTCCACAACAACCAGTCCT
original cDNA sequence snippet CAGTGCGGGAGATTCCCTGACGTTCCACAACAACCAGTCCT
altered cDNA sequence snippet CAGTGCGGGAGATTCCCTGATGTTCCACAACAACCAGTCCT
wildtype AA sequence MELDRAVGVL GAATLLLSFL GMAWALQAAD TCPEVKMVGL EGSDKLTILR GCPGLPGAPG
PKGEAGTNGK RGERGPPGPP GKAGPPGPNG APGEPQPCLT GPRTCKDLLD RGHFLSGWHT
IYLPDCRPLT VLCDMDTDGG GWTVFQRRVD GSVDFYRDWA TYKQGFGSRL GEFWLGNDNI
HALTAQGTSE LRVDLVDFED NYQFAKYRSF KVADEAEKYN LVLGAFVEGS AGDSLTFHNN
QSFSTKDQDN DLNTGNCAVM FQGAWWYKNC HVSNLNGRYL RGTHGSFANG INWKSGKGYN
YSYKVSEMKV RPA*
mutated AA sequence MELDRAVGVL GAATLLLSFL GMAWALQAAD TCPEVKMVGL EGSDKLTILR GCPGLPGAPG
PKGEAGTNGK RGERGPPGPP GKAGPPGPNG APGEPQPCLT GPRTCKDLLD RGHFLSGWHT
IYLPDCRPLT VLCDMDTDGG GWTVFQRRVD GSVDFYRDWA TYKQGFGSRL GEFWLGNDNI
HALTAQGTSE LRVDLVDFED NYQFAKYRSF KVADEAEKYN LVLGAFVEGS AGDSLMFHNN
QSFSTKDQDN DLNTGNCAVM FQGAWWYKNC HVSNLNGRYL RGTHGSFANG INWKSGKGYN
YSYKVSEMKV RPA*
speed 1.53 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