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mutation t@sting

 documentation

Prediction

disease causing

 Model: without_aae, prob: 1 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • 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 ENST00000537820
Genbank transcript ID N/A
UniProt peptide P00813
alteration type single base exchange
alteration region intron
DNA changes g.29180C>T
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
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 124
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
195207HELIXmight get lost (downstream of altered splice site)
210219STRANDmight get lost (downstream of altered splice site)
214214METALZinc; catalytic.might get lost (downstream of altered splice site)
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 N/A
AA sequence altered N/A
position of stopcodon in wt / mu CDS N/A
position (AA) of stopcodon in wt / mu AA sequence N/A
position of stopcodon in wt / mu cDNA N/A
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 85 / 85
chromosome 20
strand -1
last intron/exon boundary 1091
theoretical NMD boundary in CDS 956
length of CDS 1020
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 N/A
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 N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MAQTPAFDKP KVELHVHLDG SIKPETILYY GRRRGIALPA NTAEGLLNVI GMDKPLTLPD
FLAKFDYYMP AIAGCREAIK RIAYEFVEMK AKEGVVYVEV RYSPHLLANS KVEPIPWNQA
EGDLTPDEVV ALVGQGLQEG ERDFGVKARS ILCCMRHQPN WSPKVVELCK KYQQQTVVAI
DLAGDETIPG SSLLPGHVQA YQAVDILKTE RLGHGYHTLE DQALYNRLRQ ENMHFEICPW
SSYLTGAWKP DTEHAVIRLK NDQANYSLNT DDPLIFKSTL DTDYQMTKRD MGFTEEEFKR
LNINAAKSSF LPEDEKRELL DLLYKAYGMP PSASAGQNL*
mutated AA sequence N/A
speed 1.06 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