Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999999893944 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM900006)
  • known disease mutation: rs1966 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr20:43251695G>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.631C>T
cDNA.766C>T
g.29180C>T
AA changes R211C Score: 180 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 211
frameshift no
known variant Reference ID: rs121908740
databasehomozygous (A/A)heterozygousallele carriers
1000G---
ExAC01313

known disease mutation: rs1966 (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 CM900006)

known disease mutation at this position, please check HGMD for details (HGMD ID CM900006)
known disease mutation at this position, please check HGMD for details (HGMD ID CM900006)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)3.5161
2.2951
(flanking)1.1141
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased29191wt: 0.70 / mu: 0.80wt: GGCATTCACCGTACTGTCCACGCCGGGGAGGTGGGCTCGGC
mu: GGCATTCACTGTACTGTCCACGCCGGGGAGGTGGGCTCGGC		 ccac|GCCG
distance from splice site 25
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      211AYQEAVKSGIHRTVHAGEVGSAEV
mutated  not conserved    211AYQEAVKSGIHCTVHAGEVGSAE
Ptroglodytes  all identical  ENSPTRG00000013524  211AYQEAVKSGIHRTVHAGEVGSAE
Mmulatta  all identical  ENSMMUG00000010603  211AYQEAVKSGIHRTVHAGEVGSAE
Fcatus  all identical  ENSFCAG00000002474  244AYEEAVRSGIHRTVHAGEVGSAE
Mmusculus  all identical  ENSMUSG00000017697  211AYEGAVKNGIHRTVHAGEVGSPE
Ggallus  all identical  ENSGALG00000004170  212AYEEAERCGIHRTVHAGEAGPAT
Trubripes  all identical  ENSTRUG00000010199  215AYEEAARCGVHRTVHAGEVGPPS
Drerio  all identical  ENSDARG00000003113  214AFEEAVRSNVHRTVHAGEVGPAS
Dmelanogaster  no homologue    
Celegans  all identical  C06G3.5  244AFQEAHKRGIHRTVHAGESGGPK
Xtropicalis  all identical  ENSXETG00000003459  208AYEEAVKCGIHRTVHAGEVGPSS
protein features
start (aa)end (aa)featuredetails 
210219STRANDlost
217217ACT_SITEProton donor (Probable).might get lost (downstream of altered splice site)
221229HELIXmight get lost (downstream of altered splice site)
232232MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
234238STRANDmight get lost (downstream of altered splice site)
238238SITEImportant for catalytic activity (By similarity).might get lost (downstream of altered splice site)
240244HELIXmight get lost (downstream of altered splice site)
246254HELIXmight get lost (downstream of altered splice site)
258261STRANDmight get lost (downstream of altered splice site)
263268HELIXmight get lost (downstream of altered splice site)
270272STRANDmight get lost (downstream of altered splice site)
279285HELIXmight get lost (downstream of altered splice site)
290292STRANDmight get lost (downstream of altered splice site)
295295METALZinc; catalytic.might get lost (downstream of altered splice site)
296296BINDINGSubstrate.might get lost (downstream of altered splice site)
297300HELIXmight get lost (downstream of altered splice site)
304315HELIXmight get lost (downstream of altered splice site)
319331HELIXmight get lost (downstream of altered splice site)
333335STRANDmight get lost (downstream of altered splice site)
337351HELIXmight get lost (downstream of altered splice site)
340340CONFLICTK -> R (in Ref. 5; BAD97117).might get lost (downstream of altered splice site)
355362HELIXmight get lost (downstream of altered splice site)
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 631
cDNA position
(for ins/del: last normal base / first normal base)		 766
gDNA position
(for ins/del: last normal base / first normal base)		 29180
chromosomal position
(for ins/del: last normal base / first normal base)		 43251695
original gDNA sequence snippet CTGTGAAGAGCGGCATTCACCGTACTGTCCACGCCGGGGAG
altered gDNA sequence snippet CTGTGAAGAGCGGCATTCACTGTACTGTCCACGCCGGGGAG
original cDNA sequence snippet CTGTGAAGAGCGGCATTCACCGTACTGTCCACGCCGGGGAG
altered cDNA sequence snippet CTGTGAAGAGCGGCATTCACTGTACTGTCCACGCCGGGGAG
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 CTVHAGEVGS AEVVKEAVDI LKTERLGHGY
HTLEDQALYN RLRQENMHFE ICPWSSYLTG AWKPDTEHAV IRLKNDQANY SLNTDDPLIF
KSTLDTDYQM TKRDMGFTEE EFKRLNINAA KSSFLPEDEK RELLDLLYKA YGMPPSASAG
QNL*
speed 0.17 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