Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999997295375      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM920013)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr9:116151801G>AN/A show variant in all transcripts   IGV
HGNC symbol ALAD
Ensembl transcript ID ENST00000409155
Genbank transcript ID NM_000031
UniProt peptide P13716
alteration type single base exchange
alteration region CDS
DNA changes c.718C>T
cDNA.915C>T
g.11813C>T
AA changes R240W Score: 101 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 240
frameshift no
known variant Reference ID: rs121912982
databasehomozygous (A/A)heterozygousallele carriers
1000G---
ExAC011

known disease mutation at this position, please check HGMD for details (HGMD ID CM920013)

known disease mutation at this position, please check HGMD for details (HGMD ID CM920013)
known disease mutation at this position, please check HGMD for details (HGMD ID CM920013)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)3.7461
3.4681
(flanking)0.2110.999
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 4
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      240GARGLALRAVDRDVREGADMLMVK
mutated  not conserved    240GARGLALRAVDWDVREGADMLMV
Ptroglodytes  no homologue    
Mmulatta  all identical  ENSMMUG00000031965  269GARGLALRAVDRDVREGADVLMV
Fcatus  all identical  ENSFCAG00000009244  256GARGLALRAVARDVREGADMLMV
Mmusculus  all identical  ENSMUSG00000028393  240GARGLALRAVARDIQEGADMLMV
Ggallus  all identical  ENSGALG00000008869  247GARGLALRAVDRDVREGADMLMV
Trubripes  all identical  ENSTRUG00000010590  249GAGGLAIRAVERDV
Drerio  all identical  ENSDARG00000052815  242GARGLALRACDRDVK
Dmelanogaster  all identical  FBgn0036271  237GSRSLAMRAIQRDVAEGA
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000023474  186IRAVDRDVREGADMLMV
protein features
start (aa)end (aa)featuredetails 
231243HELIXlost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 993 / 993
position (AA) of stopcodon in wt / mu AA sequence 331 / 331
position of stopcodon in wt / mu cDNA 1190 / 1190
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 198 / 198
chromosome 9
strand -1
last intron/exon boundary 1129
theoretical NMD boundary in CDS 881
length of CDS 993
coding sequence (CDS) position 718
cDNA position
(for ins/del: last normal base / first normal base)		 915
gDNA position
(for ins/del: last normal base / first normal base)		 11813
chromosomal position
(for ins/del: last normal base / first normal base)		 116151801
original gDNA sequence snippet ATACCCTCATCCCTTAGGACCGGGATGTACGGGAAGGAGCT
altered gDNA sequence snippet ATACCCTCATCCCTTAGGACTGGGATGTACGGGAAGGAGCT
original cDNA sequence snippet TGGCTCTCCGAGCTGTGGACCGGGATGTACGGGAAGGAGCT
altered cDNA sequence snippet TGGCTCTCCGAGCTGTGGACTGGGATGTACGGGAAGGAGCT
wildtype AA sequence MQPQSVLHSG YFHPLLRAWQ TATTTLNASN LIYPIFVTDV PDDIQPITSL PGVARYGVKR
LEEMLRPLVE EGLRCVLIFG VPSRVPKDER GSAADSEESP AIEAIHLLRK TFPNLLVACD
VCLCPYTSHG HCGLLSENGA FRAEESRQRL AEVALAYAKA GCQVVAPSDM MDGRVEAIKE
ALMAHGLGNR VSVMSYSAKF ASCFYGPFRD AAKSSPAFGD RRCYQLPPGA RGLALRAVDR
DVREGADMLM VKPGMPYLDI VREVKDKHPD LPLAVYHVSG EFAMLWHGAQ AGAFDLKAAV
LEAMTAFRRA GADIIITYYT PQLLQWLKEE *
mutated AA sequence MQPQSVLHSG YFHPLLRAWQ TATTTLNASN LIYPIFVTDV PDDIQPITSL PGVARYGVKR
LEEMLRPLVE EGLRCVLIFG VPSRVPKDER GSAADSEESP AIEAIHLLRK TFPNLLVACD
VCLCPYTSHG HCGLLSENGA FRAEESRQRL AEVALAYAKA GCQVVAPSDM MDGRVEAIKE
ALMAHGLGNR VSVMSYSAKF ASCFYGPFRD AAKSSPAFGD RRCYQLPPGA RGLALRAVDW
DVREGADMLM VKPGMPYLDI VREVKDKHPD LPLAVYHVSG EFAMLWHGAQ AGAFDLKAAV
LEAMTAFRRA GADIIITYYT PQLLQWLKEE *
speed 0.94 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