Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999993294209205 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM060833)
  • known disease mutation: rs18077 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr14:21161912C>GN/A show variant in all transcripts   IGV
HGNC symbol ANG
Ensembl transcript ID ENST00000336811
Genbank transcript ID NM_001145
UniProt peptide P03950
alteration type single base exchange
alteration region CDS
DNA changes c.189C>G
cDNA.789C>G
g.9577C>G
AA changes C63W Score: 215 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 63
frameshift no
known variant Reference ID: rs121909539
Allele 'G' was neither found in ExAC nor 1000G.
known disease mutation: rs18077 (pathogenic for Amyotrophic lateral sclerosis type 9) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM060833)

known disease mutation at this position, please check HGMD for details (HGMD ID CM060833)
known disease mutation at this position, please check HGMD for details (HGMD ID CM060833)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)2.8131
0.8331
(flanking)2.3781
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 207
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      63SIMRRRGLTSPCKDINTFIHGNKR
mutated  not conserved    63SPWKDINTFIHGNK
Ptroglodytes  all identical  ENSPTRG00000034128  63SPCKDINTFIHGNK
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000072115  63SPCKDVNTFIHGNK
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
6063TURNlost
6363DISULFIDlost
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 1044 / 1044
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 601 / 601
chromosome 14
strand 1
last intron/exon boundary 583
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 189
cDNA position
(for ins/del: last normal base / first normal base)		 789
gDNA position
(for ins/del: last normal base / first normal base)		 9577
chromosomal position
(for ins/del: last normal base / first normal base)		 21161912
original gDNA sequence snippet CGGGGCCTGACCTCACCCTGCAAAGACATCAACACATTTAT
altered gDNA sequence snippet CGGGGCCTGACCTCACCCTGGAAAGACATCAACACATTTAT
original cDNA sequence snippet CGGGGCCTGACCTCACCCTGCAAAGACATCAACACATTTAT
altered cDNA sequence snippet CGGGGCCTGACCTCACCCTGGAAAGACATCAACACATTTAT
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 KPQGRDDRYC ESIMRRRGLT
SPWKDINTFI HGNKRSIKAI CENKNGNPHR ENLRISKSSF QVTTCKLHGG SPWPPCQYRA
TAGFRNVVVA CENGLPVHLD QSIFRRP*
speed 0.54 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