Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.99999999999873 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr11:6519642G>AN/A show variant in all transcripts   IGV
HGNC symbol DNHD1
Ensembl transcript ID ENST00000354685
Genbank transcript ID NM_173589
UniProt peptide Q96M86
alteration type single base exchange
alteration region CDS
DNA changes c.197G>A
cDNA.859G>A
g.1153G>A
AA changes R66Q Score: 43 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 66
frameshift no
known variant Reference ID: rs11604149
databasehomozygous (A/A)heterozygousallele carriers
1000G39711121509
ExAC13550566719217
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
Gene Associated, Regulatory Feature, Gene associated regulatory feature
DNase1, Open Chromatin, DNase1 Hypersensitive Site
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.10.004
-0.0880
(flanking)0.0190
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 increased1150wt: 0.5614 / mu: 0.5879 (marginal change - not scored)wt: TGAGCTCCGAACTCT
mu: TGAGCTCCAAACTCT		 AGCT|ccga
distance from splice site 550
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      66PTVLELLLAELRTLFSAVLQDSSP
mutated  all conserved    66LLAELQTLFSAVLQDSS
Ptroglodytes  all identical  ENSPTRG00000003295  66LLAELRTLFSAVLQDSS
Mmulatta  no alignment  ENSMMUG00000007736  n/a
Fcatus  no alignment  ENSFCAG00000004640  n/a
Mmusculus  all conserved  ENSMUSG00000030882  112RTLLKLLLSELQSLFSAVMQDGS
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1794 / 1794
position (AA) of stopcodon in wt / mu AA sequence 598 / 598
position of stopcodon in wt / mu cDNA 2456 / 2456
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 663 / 663
chromosome 11
strand 1
last intron/exon boundary 2310
theoretical NMD boundary in CDS 1597
length of CDS 1794
coding sequence (CDS) position 197
cDNA position
(for ins/del: last normal base / first normal base)		 859
gDNA position
(for ins/del: last normal base / first normal base)		 1153
chromosomal position
(for ins/del: last normal base / first normal base)		 6519642
original gDNA sequence snippet ACTCCTGCTAGCTGAGCTCCGAACTCTGTTCTCAGCTGTGT
altered gDNA sequence snippet ACTCCTGCTAGCTGAGCTCCAAACTCTGTTCTCAGCTGTGT
original cDNA sequence snippet ACTCCTGCTAGCTGAGCTCCGAACTCTGTTCTCAGCTGTGT
altered cDNA sequence snippet ACTCCTGCTAGCTGAGCTCCAAACTCTGTTCTCAGCTGTGT
wildtype AA sequence MVPEERRVGL SSDETSSDSL KSWHSICVLD SKEQPLACQQ KQRQFVKPVT ESEQPTVLEL
LLAELRTLFS AVLQDSSPAA WRYLHAVLGL LPPYRELLVG HLDLLPFLEQ LYCWAPWVQT
HLHLDLLGAI VQAFPPDSSL LDSASHADCC PQKRRLHHRP PCPACPFVQA QWSRQQVKEE
LATWLRPLTL PELQRCLGIV GAQVALEEAV WLDGLSLLPL ALAADIPVRY ESSDTDNAEV
EPVGRKETRS QLDYEVPREK AFQKSSTGFS PETSFLDSQV MTALKMERYL KKIHFLYLNV
APSRYFRPYS LMVVPPDKVN PEHYIFSPFG ILHVHPVEGS ETMTLGTWHH HCVLWQQLQF
IPFFKYCLLR KSFTCWKKNV RLQGLHRLQK FLENHLLLAV PHFGAGLLHI SRLLQELHSV
SWLPQELDRC YELLDLQTAL AEEKHKALRL LHRCLNLCTS ILRLVHEDTY HMQQCLQERV
QNCDRIRTGQ GSIYLQRVQH KQLEQKLKQA EAWWLQLGKF ARLVDYMICQ SLISVLEEQI
TSFVANILQA PRQKPFLSSQ LVFDDHGQLS HVPCVENMIQ TLTGGLQSVK TSALQVF*
mutated AA sequence MVPEERRVGL SSDETSSDSL KSWHSICVLD SKEQPLACQQ KQRQFVKPVT ESEQPTVLEL
LLAELQTLFS AVLQDSSPAA WRYLHAVLGL LPPYRELLVG HLDLLPFLEQ LYCWAPWVQT
HLHLDLLGAI VQAFPPDSSL LDSASHADCC PQKRRLHHRP PCPACPFVQA QWSRQQVKEE
LATWLRPLTL PELQRCLGIV GAQVALEEAV WLDGLSLLPL ALAADIPVRY ESSDTDNAEV
EPVGRKETRS QLDYEVPREK AFQKSSTGFS PETSFLDSQV MTALKMERYL KKIHFLYLNV
APSRYFRPYS LMVVPPDKVN PEHYIFSPFG ILHVHPVEGS ETMTLGTWHH HCVLWQQLQF
IPFFKYCLLR KSFTCWKKNV RLQGLHRLQK FLENHLLLAV PHFGAGLLHI SRLLQELHSV
SWLPQELDRC YELLDLQTAL AEEKHKALRL LHRCLNLCTS ILRLVHEDTY HMQQCLQERV
QNCDRIRTGQ GSIYLQRVQH KQLEQKLKQA EAWWLQLGKF ARLVDYMICQ SLISVLEEQI
TSFVANILQA PRQKPFLSSQ LVFDDHGQLS HVPCVENMIQ TLTGGLQSVK TSALQVF*
speed 0.87 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