Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999932295309      (explain)
Summary
  • amino acid sequence changed
  • known as potential disease variant: rs1958 (probable pathogenic)
  • known disease mutation at this position (HGMD CM860002)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr20:43249723A>CN/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 CDS
DNA changes c.839T>G
cDNA.923T>G
g.31152T>G
AA changes L280R Score: 102 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 280
frameshift no
known variant Reference ID: rs199422327
databasehomozygous (C/C)heterozygousallele carriers
1000G---
ExAC099

known as potential disease variant: rs1958 (probable pathogenic for Severe combined immunodeficiency due to ADA deficiency) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM860002)

known disease mutation at this position, please check HGMD for details (HGMD ID CM860002)
known disease mutation at this position, please check HGMD for details (HGMD ID CM860002)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.0980.787
4.7450.999
(flanking)0.7630.999
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased31142wt: 0.6802 / mu: 0.6840 (marginal change - not scored)wt: CAGATGACCCGCTCATCTTCAAGTCCACCCTGGACACTGAT
mu: CAGATGACCCGCTCATCTTCAAGTCCACCCGGGACACTGAT		 ttca|AGTC
Acc marginally increased31143wt: 0.7937 / mu: 0.7942 (marginal change - not scored)wt: AGATGACCCGCTCATCTTCAAGTCCACCCTGGACACTGATT
mu: AGATGACCCGCTCATCTTCAAGTCCACCCGGGACACTGATT		 tcaa|GTCC
distance from splice site 65
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      280NTDDPLIFKSTLDTDYQMTKRDMG
mutated  not conserved    280NTDDPLIFKSTRDTDYQMTKRDM
Ptroglodytes  all identical  ENSPTRG00000013524  304KSTLDTDYQMTKRDM
Mmulatta  all identical  ENSMMUG00000010603  304KSTLDTDYQMTKRDM
Fcatus  all identical  ENSFCAG00000002474  336KSTLETDYQMTKQNM
Mmusculus  all identical  ENSMUSG00000017697  304KSTLDTDYQMTKKDM
Ggallus  all conserved  ENSGALG00000004170  302NTDDPLIFNSNID
Trubripes  all identical  ENSTRUG00000010199  308DPLIFNSSLHLDYSVASKYM
Drerio  all identical  ENSDARG00000003113  307LNSDYEVVQKYM
Dmelanogaster  no homologue    
Celegans  all conserved  C06G3.5  340NSMLSELTLVHKQI
Xtropicalis  all identical  ENSXETG00000003459  300NTDDPLIFGSTLDVDYSIAAKHM
protein features
start (aa)end (aa)featuredetails 
279285HELIXlost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1020 / 1020
position (AA) of stopcodon in wt / mu AA sequence 340 / 340
position of stopcodon in wt / mu cDNA 1104 / 1104
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 839
cDNA position
(for ins/del: last normal base / first normal base)		 923
gDNA position
(for ins/del: last normal base / first normal base)		 31152
chromosomal position
(for ins/del: last normal base / first normal base)		 43249723
original gDNA sequence snippet GCTCATCTTCAAGTCCACCCTGGACACTGATTACCAGATGA
altered gDNA sequence snippet GCTCATCTTCAAGTCCACCCGGGACACTGATTACCAGATGA
original cDNA sequence snippet GCTCATCTTCAAGTCCACCCTGGACACTGATTACCAGATGA
altered cDNA sequence snippet GCTCATCTTCAAGTCCACCCGGGACACTGATTACCAGATGA
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 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 DDPLIFKSTR DTDYQMTKRD MGFTEEEFKR
LNINAAKSSF LPEDEKRELL DLLYKAYGMP PSASAGQNL*
speed 0.38 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