Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: without_aae, prob: 1 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • known disease mutation at this position (HGMD CM080107)
  • known disease mutation: rs2742 (pathogenic)
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr11:61727364G>AN/A show variant in all transcripts   IGV
HGNC symbol FTH1
Ensembl transcript ID ENST00000529191
Genbank transcript ID N/A
UniProt peptide N/A
alteration type single base exchange
alteration region CDS
DNA changes c.150C>T
cDNA.356C>T
g.7769C>T
AA changes no AA changes
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift no
known variant Reference ID: rs121918287
Allele 'A' was neither found in ExAC nor 1000G.
known disease mutation: rs2742 (pathogenic for Bestrophinopathy, autosomal recessive) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM080107)

known disease mutation at this position, please check HGMD for details (HGMD ID CM080107)
known disease mutation at this position, please check HGMD for details (HGMD ID CM080107)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)5.7121
5.7121
(flanking)4.7171
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased7762wt: 0.9544 / mu: 0.9772 (marginal change - not scored)wt: CCAACAGGGACACCT
mu: CCAACAGGGACATCT		 AACA|ggga
Donor marginally increased7772wt: 0.3808 / mu: 0.4015 (marginal change - not scored)wt: CACCTGGTCACCAGG
mu: CATCTGGTCACCAGG		 CCTG|gtca
distance from splice site 36
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features N/A
length of protein normal
AA sequence altered no
position of stopcodon in wt / mu CDS 309 / 309
position (AA) of stopcodon in wt / mu AA sequence 103 / 103
position of stopcodon in wt / mu cDNA 515 / 515
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 207 / 207
chromosome 11
strand -1
last intron/exon boundary 321
theoretical NMD boundary in CDS 64
length of CDS 309
coding sequence (CDS) position 150
cDNA position
(for ins/del: last normal base / first normal base)		 356
gDNA position
(for ins/del: last normal base / first normal base)		 7769
chromosomal position
(for ins/del: last normal base / first normal base)		 61727364
original gDNA sequence snippet ATCCACAGCCAACAGGGACACCTGGTCACCAGGGACAGAAG
altered gDNA sequence snippet ATCCACAGCCAACAGGGACATCTGGTCACCAGGGACAGAAG
original cDNA sequence snippet ATCCACAGCCAACAGGGACACCTGGTCACCAGGGACAGAAG
altered cDNA sequence snippet ATCCACAGCCAACAGGGACATCTGGTCACCAGGGACAGAAG
wildtype AA sequence MTTASTSQVR QNYHQDSEAA INRQINLELY ASYVYLSMVL VHLIHSQQGH LVTRDRRSPT
ERSSQAGPCM CLMTWRNLSL SLDLSFPACE MGRWVPACSL KD*
mutated AA sequence MTTASTSQVR QNYHQDSEAA INRQINLELY ASYVYLSMVL VHLIHSQQGH LVTRDRRSPT
ERSSQAGPCM CLMTWRNLSL SLDLSFPACE MGRWVPACSL KD*
speed 0.44 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