Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.99999997287132 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM960876)
  • known disease mutation: rs12118 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr4:110667554T>AN/A show variant in all transcripts   IGV
HGNC symbol CFI
Ensembl transcript ID ENST00000394635
Genbank transcript ID N/A
UniProt peptide P05156
alteration type single base exchange
alteration region CDS
DNA changes c.1277A>T
cDNA.1357A>T
g.55782A>T
AA changes H426L Score: 99 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 426
frameshift no
known variant Reference ID: rs121964912
databasehomozygous (A/A)heterozygousallele carriers
1000G---
ExAC011

known disease mutation: rs12118 (pathogenic for Afibrinogenemia) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM960876)

known disease mutation at this position, please check HGMD for details (HGMD ID CM960876)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960876)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.3420.999
4.0471
(flanking)4.8871
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 increased55783wt: 0.2931 / mu: 0.2951 (marginal change - not scored)wt: GTGGATAGAATTATTTTCCATGAAAACTACAATGCAGGCAC
mu: GTGGATAGAATTATTTTCCTTGAAAACTACAATGCAGGCAC		 ccat|GAAA
Acc gained557840.33mu: TGGATAGAATTATTTTCCTTGAAAACTACAATGCAGGCACT cttg|AAAA
Acc gained557870.31mu: ATAGAATTATTTTCCTTGAAAACTACAATGCAGGCACTTAC gaaa|ACTA
distance from splice site 105
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      426IVIEYVDRIIFHENYNAGTYQNDI
mutated  not conserved    426DRIIFLENYNAGTYQND
Ptroglodytes  all identical  ENSPTRG00000031127  426DRIIFHENYNAGTYQND
Mmulatta  no homologue    
Fcatus  all identical  ENSFCAG00000000105  448HENYNGSSYEND
Mmusculus  all identical  ENSMUSG00000058952  439LGIQTVKRVIVHEKYNGATFQND
Ggallus  all identical  ENSGALG00000012126  381DTYR-LKQLIIHEKYDAATYEND
Trubripes  all identical  ENSTRUG00000001744  517TTDIVPVKDIFIHPRFNASSYEND
Drerio  all identical  ENSDARG00000036900  455STTDSIPVKKIIIH
Dmelanogaster  all identical  FBgn0033192  1184NSFTYSGQKVKVKAVIPHPQYNMAIAHDND
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
340574DOMAINPeptidase S1.lost
429429ACT_SITECharge relay system (By similarity).might get lost (downstream of altered splice site)
431435STRANDmight get lost (downstream of altered splice site)
439442STRANDmight get lost (downstream of altered splice site)
464464CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
466470STRANDmight get lost (downstream of altered splice site)
467467DISULFIDBy similarity.might get lost (downstream of altered splice site)
486491STRANDmight get lost (downstream of altered splice site)
494494CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
495495DISULFIDBy similarity.might get lost (downstream of altered splice site)
496499HELIXmight get lost (downstream of altered splice site)
505507TURNmight get lost (downstream of altered splice site)
508513STRANDmight get lost (downstream of altered splice site)
510510DISULFIDBy similarity.might get lost (downstream of altered splice site)
521521DISULFIDBy similarity.might get lost (downstream of altered splice site)
525525ACT_SITECharge relay system (By similarity).might get lost (downstream of altered splice site)
528532STRANDmight get lost (downstream of altered splice site)
531531DISULFIDBy similarity.might get lost (downstream of altered splice site)
536536CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
538546STRANDmight get lost (downstream of altered splice site)
550550DISULFIDBy similarity.might get lost (downstream of altered splice site)
557561STRANDmight get lost (downstream of altered splice site)
558558CONFLICTV -> F (in Ref. 2; AAA52455).might get lost (downstream of altered splice site)
562565HELIXmight get lost (downstream of altered splice site)
566572HELIXmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1776 / 1776
position (AA) of stopcodon in wt / mu AA sequence 592 / 592
position of stopcodon in wt / mu cDNA 1856 / 1856
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 81 / 81
chromosome 4
strand -1
last intron/exon boundary 1639
theoretical NMD boundary in CDS 1508
length of CDS 1776
coding sequence (CDS) position 1277
cDNA position
(for ins/del: last normal base / first normal base)		 1357
gDNA position
(for ins/del: last normal base / first normal base)		 55782
chromosomal position
(for ins/del: last normal base / first normal base)		 110667554
original gDNA sequence snippet CGTGGATAGAATTATTTTCCATGAAAACTACAATGCAGGCA
altered gDNA sequence snippet CGTGGATAGAATTATTTTCCTTGAAAACTACAATGCAGGCA
original cDNA sequence snippet CGTGGATAGAATTATTTTCCATGAAAACTACAATGCAGGCA
altered cDNA sequence snippet CGTGGATAGAATTATTTTCCTTGAAAACTACAATGCAGGCA
wildtype AA sequence MKLLHVFLLF LCFHLRFCKV TYTSQEDLVE KKCLAKKYTH LSCDKVFCQP WQRCIEGTCV
CKLPYQCPKN GTAVCATNRR SFPTYCQQKS LECLHPGTKF LNNGTCTAEG KFSVSLKHGN
TDSEGIVEVK LVDQDKTMFI CKSSWSMREA NVACLDLGFQ QGADTQRRFK LSDLSINSTE
CLHVHCRGLE TSLAECTFTK RRTMGYQDFA DVVCYTQKAD SPMDDFFQCV NGKYISQMKA
CDGINDCGDQ SDELCCKACQ GKGFHCKSGV CIPSQYQCNG EVDCITGEDE VGCAAARHPT
IQGFASVTQE ETEILTADMD AERRRIKSLL PKLSCGVKNR MHIRRKRIVG GKRAQLGDLP
WQVAIKDASG ITCGGIYIGG CWILTAAHCL RASKTHRYQI WTTVVDWIHP DLKRIVIEYV
DRIIFHENYN AGTYQNDIAL IEMKKDGNKK DCELPRSIPA CVPWSPYLFQ PNDTCIVSGW
GREKDNERVF SLQWGEVKLI SNCSKFYGNR FYEKEMECAG TYDGSIDACK GDSGGPLVCM
DANNVTYVWG VVSWGENCGK PEFPGVYTKV ANYFDWISYH VGRPFISQYN V*
mutated AA sequence MKLLHVFLLF LCFHLRFCKV TYTSQEDLVE KKCLAKKYTH LSCDKVFCQP WQRCIEGTCV
CKLPYQCPKN GTAVCATNRR SFPTYCQQKS LECLHPGTKF LNNGTCTAEG KFSVSLKHGN
TDSEGIVEVK LVDQDKTMFI CKSSWSMREA NVACLDLGFQ QGADTQRRFK LSDLSINSTE
CLHVHCRGLE TSLAECTFTK RRTMGYQDFA DVVCYTQKAD SPMDDFFQCV NGKYISQMKA
CDGINDCGDQ SDELCCKACQ GKGFHCKSGV CIPSQYQCNG EVDCITGEDE VGCAAARHPT
IQGFASVTQE ETEILTADMD AERRRIKSLL PKLSCGVKNR MHIRRKRIVG GKRAQLGDLP
WQVAIKDASG ITCGGIYIGG CWILTAAHCL RASKTHRYQI WTTVVDWIHP DLKRIVIEYV
DRIIFLENYN AGTYQNDIAL IEMKKDGNKK DCELPRSIPA CVPWSPYLFQ PNDTCIVSGW
GREKDNERVF SLQWGEVKLI SNCSKFYGNR FYEKEMECAG TYDGSIDACK GDSGGPLVCM
DANNVTYVWG VVSWGENCGK PEFPGVYTKV ANYFDWISYH VGRPFISQYN V*
speed 0.95 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