Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999910429389 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM116423)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr6:31118511T>GN/A show variant in all transcripts   IGV
HGNC symbol CCHCR1
Ensembl transcript ID ENST00000396263
Genbank transcript ID N/A
UniProt peptide Q8TD31
alteration type single base exchange
alteration region CDS
DNA changes c.825A>C
cDNA.977A>C
g.7505A>C
AA changes E275D Score: 45 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 275
frameshift no
known variant Reference ID: rs130067
databasehomozygous (G/G)heterozygousallele carriers
1000G1749291103
ExAC32422032123563

known disease mutation at this position, please check HGMD for details (HGMD ID CM116423)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.5560.632
-0.0630.665
(flanking)2.3340.952
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 increased7509wt: 0.7288 / mu: 0.7865 (marginal change - not scored)wt: AAACCATGCAGGTGA
mu: ACACCATGCAGGTGA		 ACCA|tgca
Donor marginally increased7502wt: 0.2446 / mu: 0.2576 (marginal change - not scored)wt: CTTCTGGAAACCATG
mu: CTTCTGGACACCATG		 TCTG|gaaa
distance from splice site 10
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      275QTWELERQKLLETMQHLQEDRDSL
mutated  all conserved    275QTWELERQKLLDTMQHLQEDRDS
Ptroglodytes  not conserved  ENSPTRG00000017951  278VAWRPYRGAASLCPQHLQEDRDS
Mmulatta  all conserved  ENSMMUG00000015679  209QQLSKVAQQLEQELQQTQESLAS
Fcatus  no alignment  ENSFCAG00000019136  n/a
Mmusculus  all conserved  ENSMUSG00000040312  358QEWELERKELLDTLKHLKEDRAD
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000024080  268EEQNRERMELSNTVQALEKERNV
protein features
start (aa)end (aa)featuredetails 
111303COILEDPotential.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2190 / 2190
position (AA) of stopcodon in wt / mu AA sequence 730 / 730
position of stopcodon in wt / mu cDNA 2342 / 2342
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 153 / 153
chromosome 6
strand -1
last intron/exon boundary 2218
theoretical NMD boundary in CDS 2015
length of CDS 2190
coding sequence (CDS) position 825
cDNA position
(for ins/del: last normal base / first normal base)		 977
gDNA position
(for ins/del: last normal base / first normal base)		 7505
chromosomal position
(for ins/del: last normal base / first normal base)		 31118511
original gDNA sequence snippet GAGCGACAGAAGCTTCTGGAAACCATGCAGGTGAGGGTGCA
altered gDNA sequence snippet GAGCGACAGAAGCTTCTGGACACCATGCAGGTGAGGGTGCA
original cDNA sequence snippet GAGCGACAGAAGCTTCTGGAAACCATGCAGCACTTGCAGGA
altered cDNA sequence snippet GAGCGACAGAAGCTTCTGGACACCATGCAGCACTTGCAGGA
wildtype AA sequence MFPPSGSTGL IPPSHFQARP LSTLPRMAPT WLSDIPLVQP PGHQDVSERR LDTQRPQVTM
WERDVSSDRQ EPGRRGRSWG LEGSQALSQQ AEVIVRQLQE LRRLEEEVRL LRETSLQQKM
RLEAQAMELE ALARAEKAGR AEAEGLRAAL AGAEVVRKNL EEGSQRELEE VQRLHQEQLS
SLTQAHEEAL SSLTSKAEGL EKSLSSLETR RAGEAKELAE AQREAELLRK QLSKTQEDLE
AQVTLVENLR KYVGEQVPSE VHSQTWELER QKLLETMQHL QEDRDSLHAT AELLQVRVQS
LTHILALQEE ELTRKVQPSD SLEPEFTRKC QSLLNRWREK VFALMVQLKA QELEHSDSVK
QLKGQVASLQ EKVTSQSQEQ AILQRSLQDK AAEVEVERMG AKGLQLELSR AQEARRRWQQ
QTASAEEQLR LVVNAVSSCP LPPPVTDVSL ELQQLREERN RLDAELQLSA RLIQQEVGRA
REQGEAERQQ LSKVAQQLEQ ELQQTQESLA SLGLQLEVAR QGQQESTEEA ASLRQELTQQ
QELYGQALQE KVAEVETRLR EQLSDTERRL NEARREHAKA VVSLRQIQRR AAQEKERSQE
LRRLQEEARK EEGQRLARRL QELERDKNLM LATLQQEGLL SRYKQQRLLT VLPSLLDKKK
SVVSSPRPPE CSASAPVAAA VPTRESIKGS LSVLLDDLQD LSEAISKEEA VCQGDNLDRC
SSSNPQMSS*
mutated AA sequence MFPPSGSTGL IPPSHFQARP LSTLPRMAPT WLSDIPLVQP PGHQDVSERR LDTQRPQVTM
WERDVSSDRQ EPGRRGRSWG LEGSQALSQQ AEVIVRQLQE LRRLEEEVRL LRETSLQQKM
RLEAQAMELE ALARAEKAGR AEAEGLRAAL AGAEVVRKNL EEGSQRELEE VQRLHQEQLS
SLTQAHEEAL SSLTSKAEGL EKSLSSLETR RAGEAKELAE AQREAELLRK QLSKTQEDLE
AQVTLVENLR KYVGEQVPSE VHSQTWELER QKLLDTMQHL QEDRDSLHAT AELLQVRVQS
LTHILALQEE ELTRKVQPSD SLEPEFTRKC QSLLNRWREK VFALMVQLKA QELEHSDSVK
QLKGQVASLQ EKVTSQSQEQ AILQRSLQDK AAEVEVERMG AKGLQLELSR AQEARRRWQQ
QTASAEEQLR LVVNAVSSCP LPPPVTDVSL ELQQLREERN RLDAELQLSA RLIQQEVGRA
REQGEAERQQ LSKVAQQLEQ ELQQTQESLA SLGLQLEVAR QGQQESTEEA ASLRQELTQQ
QELYGQALQE KVAEVETRLR EQLSDTERRL NEARREHAKA VVSLRQIQRR AAQEKERSQE
LRRLQEEARK EEGQRLARRL QELERDKNLM LATLQQEGLL SRYKQQRLLT VLPSLLDKKK
SVVSSPRPPE CSASAPVAAA VPTRESIKGS LSVLLDDLQD LSEAISKEEA VCQGDNLDRC
SSSNPQMSS*
speed 0.74 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