Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999999712693      (explain)
Summary
  • amino acid sequence changed
  • known as potential disease variant: rs5374 (probable pathogenic)
  • known disease mutation at this position (HGMD CM032543)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr7:137791367C>TN/A show variant in all transcripts   IGV
HGNC symbol AKR1D1
Ensembl transcript ID ENST00000242375
Genbank transcript ID NM_005989
UniProt peptide P51857
alteration type single base exchange
alteration region CDS
DNA changes c.593C>T
cDNA.635C>T
g.104298C>T
AA changes P198L Score: 98 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 198
frameshift no
known variant Reference ID: rs121918342
databasehomozygous (T/T)heterozygousallele carriers
1000G---
ExAC055

known as potential disease variant: rs5374 (probable pathogenic for Congenital bile acid synthesis defect 2|not provided) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM032543)

known disease mutation at this position, please check HGMD for details (HGMD ID CM032543)
known disease mutation at this position, please check HGMD for details (HGMD ID CM032543)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)4.9641
4.9641
(flanking)-0.8010.882
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased104309wt: 0.61 / mu: 0.74wt: AGTGCCATCCGTATTTCACCCAGCCAAAACTCTTGAAATTT
mu: AGTGCCATCTGTATTTCACCCAGCCAAAACTCTTGAAATTT		 accc|AGCC
distance from splice site 14
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      198HKPVSNQVECHPYFTQPKLLKFCQ
mutated  not conserved    198HKPVSNQVECHLYFTQPKLLKFC
Ptroglodytes  all identical  ENSPTRG00000019740  198HKPVSNQVECHPYFTQPKLLKFC
Mmulatta  all identical  ENSMMUG00000005422  198YKPVSNQVECHPYFTQPKLLKFC
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000038641  197YKPVTNQVECHPYFTQTKLLKFC
Ggallus  all identical  ENSGALG00000012834  198HKPVSNQVECHPYFTQPKLLEFC
Trubripes  all identical  ENSTRUG00000016401  198YKPVSNQVECHPYFTQPKLLEFC
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000026269  199YKPATNQVECHPYFTQPKLLEFS
protein features
start (aa)end (aa)featuredetails 
203211HELIXmight get lost (downstream of altered splice site)
215220STRANDmight get lost (downstream of altered splice site)
220224NP_BINDNADP.might get lost (downstream of altered splice site)
228230TURNmight get lost (downstream of altered splice site)
230230BINDINGSubstrate.might get lost (downstream of altered splice site)
238240HELIXmight get lost (downstream of altered splice site)
242250HELIXmight get lost (downstream of altered splice site)
255265HELIXmight get lost (downstream of altered splice site)
273283NP_BINDNADP.might get lost (downstream of altered splice site)
277284HELIXmight get lost (downstream of altered splice site)
293300HELIXmight get lost (downstream of altered splice site)
312314HELIXmight get lost (downstream of altered splice site)
321324STRANDmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 981 / 981
position (AA) of stopcodon in wt / mu AA sequence 327 / 327
position of stopcodon in wt / mu cDNA 1023 / 1023
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 43 / 43
chromosome 7
strand 1
last intron/exon boundary 981
theoretical NMD boundary in CDS 888
length of CDS 981
coding sequence (CDS) position 593
cDNA position
(for ins/del: last normal base / first normal base)		 635
gDNA position
(for ins/del: last normal base / first normal base)		 104298
chromosomal position
(for ins/del: last normal base / first normal base)		 137791367
original gDNA sequence snippet CACATAGGTTGAGTGCCATCCGTATTTCACCCAGCCAAAAC
altered gDNA sequence snippet CACATAGGTTGAGTGCCATCTGTATTTCACCCAGCCAAAAC
original cDNA sequence snippet CAACCAGGTTGAGTGCCATCCGTATTTCACCCAGCCAAAAC
altered cDNA sequence snippet CAACCAGGTTGAGTGCCATCTGTATTTCACCCAGCCAAAAC
wildtype AA sequence MDLSAASHRI PLSDGNSIPI IGLGTYSEPK STPKGACATS VKVAIDTGYR HIDGAYIYQN
EHEVGEAIRE KIAEGKVRRE DIFYCGKLWA TNHVPEMVRP TLERTLRVLQ LDYVDLYIIE
VPMAFKPGDE IYPRDENGKW LYHKSNLCAT WEAMEACKDA GLVKSLGVSN FNRRQLELIL
NKPGLKHKPV SNQVECHPYF TQPKLLKFCQ QHDIVITAYS PLGTSRNPIW VNVSSPPLLK
DALLNSLGKR YNKTAAQIVL RFNIQRGVVV IPKSFNLERI KENFQIFDFS LTEEEMKDIE
ALNKNVRFVE LLMWRDHPEY PFHDEY*
mutated AA sequence MDLSAASHRI PLSDGNSIPI IGLGTYSEPK STPKGACATS VKVAIDTGYR HIDGAYIYQN
EHEVGEAIRE KIAEGKVRRE DIFYCGKLWA TNHVPEMVRP TLERTLRVLQ LDYVDLYIIE
VPMAFKPGDE IYPRDENGKW LYHKSNLCAT WEAMEACKDA GLVKSLGVSN FNRRQLELIL
NKPGLKHKPV SNQVECHLYF TQPKLLKFCQ QHDIVITAYS PLGTSRNPIW VNVSSPPLLK
DALLNSLGKR YNKTAAQIVL RFNIQRGVVV IPKSFNLERI KENFQIFDFS LTEEEMKDIE
ALNKNVRFVE LLMWRDHPEY PFHDEY*
speed 0.96 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