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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 CM000702)
  • known disease mutation at this position (HGMD CM090540)
  • known disease mutation: rs526 (pathogenic)
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr5:127674672C>AN/A show variant in all transcripts   IGV
HGNC symbol FBN2
Ensembl transcript ID ENST00000507835
Genbank transcript ID N/A
UniProt peptide N/A
alteration type single base exchange
alteration region 5'UTR
DNA changes cDNA.212G>T
g.320207G>T
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs137852828
Allele 'A' was neither found in ExAC nor 1000G.
known disease mutation: rs526 (pathogenic for Congenital contractural arachnodactyly) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM000702)

known disease mutation at this position, please check HGMD for details (HGMD ID CM000702)
known disease mutation at this position, please check HGMD for details (HGMD ID CM090540)

known disease mutation at this position, please check HGMD for details (HGMD ID CM000702)
known disease mutation at this position, please check HGMD for details (HGMD ID CM090540)
known disease mutation at this position, please check HGMD for details (HGMD ID CM000702)

known disease mutation at this position, please check HGMD for details (HGMD ID CM000702)
known disease mutation at this position, please check HGMD for details (HGMD ID CM090540)
known disease mutation at this position, please check HGMD for details (HGMD ID CM000702)
known disease mutation at this position, please check HGMD for details (HGMD ID CM090540)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.9111
6.0331
(flanking)4.9831
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 increased320209wt: 0.8982 / mu: 0.9303 (marginal change - not scored)wt: AGTGCTTCGAAGGCT
mu: AGTTCTTCGAAGGCT		 TGCT|tcga
distance from splice site 48
Kozak consensus sequence altered? no
conservation
protein level for non-synonymous changes		 N/A
protein features N/A
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 238 / 238
chromosome 5
strand -1
last intron/exon boundary 1133
theoretical NMD boundary in CDS 845
length of CDS 1071
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 212
gDNA position
(for ins/del: last normal base / first normal base)		 320207
chromosomal position
(for ins/del: last normal base / first normal base)		 127674672
original gDNA sequence snippet GGGCAGCTTTGAGTGCGAGTGCTTCGAAGGCTATGAAAGTG
altered gDNA sequence snippet GGGCAGCTTTGAGTGCGAGTTCTTCGAAGGCTATGAAAGTG
original cDNA sequence snippet GGGCAGCTTTGAGTGCGAGTGCTTCGAAGGCTATGAAAGTG
altered cDNA sequence snippet GGGCAGCTTTGAGTGCGAGTTCTTCGAAGGCTATGAAAGTG
wildtype AA sequence MMMKNCMDID ECERNPLLCR GGTCVNTEGS FQCDCPLGHE LSPSREDCVD INECSLSDNL
CRNGKCVNMI GTYQCSCNPG YQATPDRQGC TDIDECMIMN GGCDTQCTNS EGSYECSCSE
GYALMPDGRS CADIDECENN PDICDGGQCT NIPGEYRCLC YDGFMASMDM KTCIDVNECD
LNSNICMFGE CENTKGSFIC HCQLGYSVKK GTTGCTDVDE CEIGAHNCDM HASCLNIPGS
FKCSCREGWI GNGIKCIDLD ECSNGTHQCS INAQCVNTPG SYRCACSEGF TGDGFTCSDV
DECAENINLC ENGQCLNVPG AYRCECEMGF TPASDSRSCQ GGSPGFQLIF KLDQPQ*
mutated AA sequence N/A
speed 1.08 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