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 ENST00000396268
Genbank transcript ID NM_001105564
UniProt peptide Q8TD31
alteration type single base exchange
alteration region CDS
DNA changes c.1092A>C
cDNA.1281A>C
g.7505A>C
AA changes E364D Score: 45 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 364
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      364QTWELERQKLLETMQHLQEDRDSL
mutated  all conserved    364KLLDTMQHLQEDRDS
Ptroglodytes  not conserved  ENSPTRG00000017951  278-AWRPYRGAASLCPQHLQEDRDS
Mmulatta  all conserved  ENSMMUG00000015679  209QQLSKVAQQLEQELQQTQESLAS
Fcatus  no alignment  ENSFCAG00000019136  n/a
Mmusculus  all conserved  ENSMUSG00000040312  358ELLDTLKHLKEDRAD
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 
344437COILEDPotential.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2616 / 2616
position (AA) of stopcodon in wt / mu AA sequence 872 / 872
position of stopcodon in wt / mu cDNA 2805 / 2805
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 190 / 190
chromosome 6
strand -1
last intron/exon boundary 2681
theoretical NMD boundary in CDS 2441
length of CDS 2616
coding sequence (CDS) position 1092
cDNA position
(for ins/del: last normal base / first normal base)		 1281
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 MWPHSAGARP WASTLTGKDP RVMACWCLDG LPSGLAEPWR ELWRWRSRPL HCVPPFSPLA
RSSRDHRNLR RRGNIDGWRQ NLEPSNNVEM FPPSGSTGLI PPSHFQARPL STLPRMAPTW
LSDIPLVQPP GHQDVSERRL DTQRPQVTMW ERDVSSDRQE PGRRGRSWGL EGSQALSQQA
EVIVRQLQEL RRLEEEVRLL RETSLQQKMR LEAQAMELEA LARAEKAGRA EAEGLRAALA
GAEVVRKNLE EGSQRELEEV QRLHQEQLSS LTQAHEEALS SLTSKAEGLE KSLSSLETRR
AGEAKELAEA QREAELLRKQ LSKTQEDLEA QVTLVENLRK YVGEQVPSEV HSQTWELERQ
KLLETMQHLQ EDRDSLHATA ELLQVRVQSL THILALQEEE LTRKVQPSDS LEPEFTRKCQ
SLLNRWREKV FALMVQLKAQ ELEHSDSVKQ LKGQVASLQE KVTSQSQEQA ILQRSLQDKA
AEVEVERMGA KGLQLELSRA QEARRRWQQQ TASAEEQLRL VVNAVSSSQI WLETTMAKVE
GAAAQLPSLN NRLSYAVRKV HTIRGLIARK LALAQLRQES CPLPPPVTDV SLELQQLREE
RNRLDAELQL SARLIQQEVG RAREQGEAER QQLSKVAQQL EQELQQTQES LASLGLQLEV
ARQGQQESTE EAASLRQELT QQQELYGQAL QEKVAEVETR LREQLSDTER RLNEARREHA
KAVVSLRQIQ RRAAQEKERS QELRRLQEEA RKEEGQRLAR RLQELERDKN LMLATLQQEG
LLSRYKQQRL LTVLPSLLDK KKSVVSSPRP PECSASAPVA AAVPTRESIK GSLSVLLDDL
QDLSEAISKE EAVCQGDNLD RCSSSNPQMS S*
mutated AA sequence MWPHSAGARP WASTLTGKDP RVMACWCLDG LPSGLAEPWR ELWRWRSRPL HCVPPFSPLA
RSSRDHRNLR RRGNIDGWRQ NLEPSNNVEM FPPSGSTGLI PPSHFQARPL STLPRMAPTW
LSDIPLVQPP GHQDVSERRL DTQRPQVTMW ERDVSSDRQE PGRRGRSWGL EGSQALSQQA
EVIVRQLQEL RRLEEEVRLL RETSLQQKMR LEAQAMELEA LARAEKAGRA EAEGLRAALA
GAEVVRKNLE EGSQRELEEV QRLHQEQLSS LTQAHEEALS SLTSKAEGLE KSLSSLETRR
AGEAKELAEA QREAELLRKQ LSKTQEDLEA QVTLVENLRK YVGEQVPSEV HSQTWELERQ
KLLDTMQHLQ EDRDSLHATA ELLQVRVQSL THILALQEEE LTRKVQPSDS LEPEFTRKCQ
SLLNRWREKV FALMVQLKAQ ELEHSDSVKQ LKGQVASLQE KVTSQSQEQA ILQRSLQDKA
AEVEVERMGA KGLQLELSRA QEARRRWQQQ TASAEEQLRL VVNAVSSSQI WLETTMAKVE
GAAAQLPSLN NRLSYAVRKV HTIRGLIARK LALAQLRQES CPLPPPVTDV SLELQQLREE
RNRLDAELQL SARLIQQEVG RAREQGEAER QQLSKVAQQL EQELQQTQES LASLGLQLEV
ARQGQQESTE EAASLRQELT QQQELYGQAL QEKVAEVETR LREQLSDTER RLNEARREHA
KAVVSLRQIQ RRAAQEKERS QELRRLQEEA RKEEGQRLAR RLQELERDKN LMLATLQQEG
LLSRYKQQRL LTVLPSLLDK KKSVVSSPRP PECSASAPVA AAVPTRESIK GSLSVLLDDL
QDLSEAISKE EAVCQGDNLD RCSSSNPQMS S*
speed 0.97 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