Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.998611979645496 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM970060)
  • known disease mutation: rs1980 (pathogenic)
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr20:43251552G>AN/A show variant in all transcripts   IGV
HGNC symbol ADA
Ensembl transcript ID ENST00000372874
Genbank transcript ID NM_000022
UniProt peptide P00813
alteration type single base exchange
alteration region CDS
DNA changes c.698C>T
cDNA.833C>T
g.29323C>T
AA changes T233I Score: 89 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 233
frameshift no
known variant Reference ID: rs121908729
Allele 'A' was neither found in ExAC nor 1000G.
known disease mutation: rs1980 (pathogenic for Severe combined immunodeficiency due to ADA deficiency|Partial adenosine deaminase deficiency) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM970060)

known disease mutation at this position, please check HGMD for details (HGMD ID CM970060)
known disease mutation at this position, please check HGMD for details (HGMD ID CM970060)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-3.2840.02
5.4681
(flanking)1.9441
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 increased29321wt: 0.9040 / mu: 0.9056 (marginal change - not scored)wt: CTCAAGACAGAGCGG
mu: CTCAAGATAGAGCGG		 CAAG|acag
distance from splice site 20
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      233EVVKEAVDILKTERLGHGYHTLED
mutated  not conserved    233EVVKEAVDILKIERLGHGY
Ptroglodytes  all identical  ENSPTRG00000013524  233EVVKEAVDILKTERLGHGY
Mmulatta  all identical  ENSMMUG00000010603  233EVVKEAVDILKTERLGHGY
Fcatus  all identical  ENSFCAG00000002474  266EVVRQAVDTLKTERVGHGY
Mmusculus  all identical  ENSMUSG00000017697  233EVVREAVDILKTERVGHGY
Ggallus  not conserved  ENSGALG00000004170  234TMIKEAVYLLKAERIGHGYHVLE
Trubripes  not conserved  ENSTRUG00000010199  237SVVKEAVEVLKAERV
Drerio  not conserved  ENSDARG00000003113  236SVVREAVEVLKAERIGHGYHTLE
Dmelanogaster  no homologue    
Celegans  not conserved  C06G3.5  266KEVIKAIEDMYAERIGHGYRVMR
Xtropicalis  not conserved  ENSXETG00000003459  230SVVKEAVEVLKAERIGHGYHTTE
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1092 / 1092
position (AA) of stopcodon in wt / mu AA sequence 364 / 364
position of stopcodon in wt / mu cDNA 1227 / 1227
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 136 / 136
chromosome 20
strand -1
last intron/exon boundary 1214
theoretical NMD boundary in CDS 1028
length of CDS 1092
coding sequence (CDS) position 698
cDNA position
(for ins/del: last normal base / first normal base)		 833
gDNA position
(for ins/del: last normal base / first normal base)		 29323
chromosomal position
(for ins/del: last normal base / first normal base)		 43251552
original gDNA sequence snippet GGCTGTGGACATACTCAAGACAGAGCGGCTGGGACACGGCT
altered gDNA sequence snippet GGCTGTGGACATACTCAAGATAGAGCGGCTGGGACACGGCT
original cDNA sequence snippet GGCTGTGGACATACTCAAGACAGAGCGGCTGGGACACGGCT
altered cDNA sequence snippet GGCTGTGGACATACTCAAGATAGAGCGGCTGGGACACGGCT
wildtype AA sequence MAQTPAFDKP KVELHVHLDG SIKPETILYY GRRRGIALPA NTAEGLLNVI GMDKPLTLPD
FLAKFDYYMP AIAGCREAIK RIAYEFVEMK AKEGVVYVEV RYSPHLLANS KVEPIPWNQA
EGDLTPDEVV ALVGQGLQEG ERDFGVKARS ILCCMRHQPN WSPKVVELCK KYQQQTVVAI
DLAGDETIPG SSLLPGHVQA YQEAVKSGIH RTVHAGEVGS AEVVKEAVDI LKTERLGHGY
HTLEDQALYN RLRQENMHFE ICPWSSYLTG AWKPDTEHAV IRLKNDQANY SLNTDDPLIF
KSTLDTDYQM TKRDMGFTEE EFKRLNINAA KSSFLPEDEK RELLDLLYKA YGMPPSASAG
QNL*
mutated AA sequence MAQTPAFDKP KVELHVHLDG SIKPETILYY GRRRGIALPA NTAEGLLNVI GMDKPLTLPD
FLAKFDYYMP AIAGCREAIK RIAYEFVEMK AKEGVVYVEV RYSPHLLANS KVEPIPWNQA
EGDLTPDEVV ALVGQGLQEG ERDFGVKARS ILCCMRHQPN WSPKVVELCK KYQQQTVVAI
DLAGDETIPG SSLLPGHVQA YQEAVKSGIH RTVHAGEVGS AEVVKEAVDI LKIERLGHGY
HTLEDQALYN RLRQENMHFE ICPWSSYLTG AWKPDTEHAV IRLKNDQANY SLNTDDPLIF
KSTLDTDYQM TKRDMGFTEE EFKRLNINAA KSSFLPEDEK RELLDLLYKA YGMPPSASAG
QNL*
speed 0.63 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