Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 7.2522788046701e-11 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM060830)
  • known disease mutation: rs18075 (pathogenic)
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr14:21161844A>GN/A show variant in all transcripts   IGV
HGNC symbol ANG
Ensembl transcript ID ENST00000397990
Genbank transcript ID NM_001097577
UniProt peptide P03950
alteration type single base exchange
alteration region CDS
DNA changes c.121A>G
cDNA.241A>G
g.9509A>G
AA changes K41E Score: 56 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 41
frameshift no
known variant Reference ID: rs121909537
Allele 'G' was neither found in ExAC nor 1000G.
known disease mutation: rs18075 (pathogenic for Amyotrophic lateral sclerosis type 9) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM060830)

known disease mutation at this position, please check HGMD for details (HGMD ID CM060830)
known disease mutation at this position, please check HGMD for details (HGMD ID CM060830)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.430.012
0.4280.007
(flanking)-0.0710.001
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 139
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      41YTHFLTQHYDAKPQGRDDRYCESI
mutated  all conserved    41YTHFLTQHYDAEPQGRDDRYCES
Ptroglodytes  all identical  ENSPTRG00000034128  41YTHFLTQHYDAKPQGRDHRYCES
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000072115  41YTKFLTQHHDAKPKGRDDRYCER
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 444 / 444
position (AA) of stopcodon in wt / mu AA sequence 148 / 148
position of stopcodon in wt / mu cDNA 564 / 564
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 121 / 121
chromosome 14
strand 1
last intron/exon boundary 103
theoretical NMD boundary in CDS cannot be calculated, too little distance between start ATG and last intron/exon boundary
length of CDS 444
coding sequence (CDS) position 121
cDNA position
(for ins/del: last normal base / first normal base)		 241
gDNA position
(for ins/del: last normal base / first normal base)		 9509
chromosomal position
(for ins/del: last normal base / first normal base)		 21161844
original gDNA sequence snippet TGACCCAGCACTATGATGCCAAACCACAGGGCCGGGATGAC
altered gDNA sequence snippet TGACCCAGCACTATGATGCCGAACCACAGGGCCGGGATGAC
original cDNA sequence snippet TGACCCAGCACTATGATGCCAAACCACAGGGCCGGGATGAC
altered cDNA sequence snippet TGACCCAGCACTATGATGCCGAACCACAGGGCCGGGATGAC
wildtype AA sequence MVMGLGVLLL VFVLGLGLTP PTLAQDNSRY THFLTQHYDA KPQGRDDRYC ESIMRRRGLT
SPCKDINTFI HGNKRSIKAI CENKNGNPHR ENLRISKSSF QVTTCKLHGG SPWPPCQYRA
TAGFRNVVVA CENGLPVHLD QSIFRRP*
mutated AA sequence MVMGLGVLLL VFVLGLGLTP PTLAQDNSRY THFLTQHYDA EPQGRDDRYC ESIMRRRGLT
SPCKDINTFI HGNKRSIKAI CENKNGNPHR ENLRISKSSF QVTTCKLHGG SPWPPCQYRA
TAGFRNVVVA CENGLPVHLD QSIFRRP*
speed 1.05 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