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mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999729991989 (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)
 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 ENST00000451521
Genbank transcript ID NM_001105563
UniProt peptide Q8TD31
alteration type single base exchange
alteration region CDS
DNA changes c.984A>C
cDNA.991A>C
g.7505A>C
AA changes E328D Score: 45 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 328
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      328QTWELERQKLLETMQHLQEDRDSL
mutated  all conserved    328QTWELERQKLLDTMQHLQEDRDS
Ptroglodytes  not conserved  ENSPTRG00000017951  278RPYRGAASLCPQHLQEDRDS
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 no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2508 / 2508
position (AA) of stopcodon in wt / mu AA sequence 836 / 836
position of stopcodon in wt / mu cDNA 2515 / 2515
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 8 / 8
chromosome 6
strand -1
last intron/exon boundary 2391
theoretical NMD boundary in CDS 2333
length of CDS 2508
coding sequence (CDS) position 984
cDNA position
(for ins/del: last normal base / first normal base)		 991
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 FPPSGHQDVS ERRLDTQRPQ VTMWERDVSS
DRQEPGRRGR SWGLEGSQAL SQQAEVIVRQ LQELRRLEEE VRLLRETSLQ QKMRLEAQAM
ELEALARAEK AGRAEAEGLR AALAGAEVVR KNLEEGSQRE LEEVQRLHQE QLSSLTQAHE
EALSSLTSKA EGLEKSLSSL ETRRAGEAKE LAEAQREAEL LRKQLSKTQE DLEAQVTLVE
NLRKYVGEQV PSEVHSQTWE LERQKLLETM QHLQEDRDSL HATAELLQVR VQSLTHILAL
QEEELTRKVQ PSDSLEPEFT RKCQSLLNRW REKVFALMVQ LKAQELEHSD SVKQLKGQVA
SLQEKVTSQS QEQAILQRSL QDKAAEVEVE RMGAKGLQLE LSRAQEARRR WQQQTASAEE
QLRLVVNAVS SSQIWLETTM AKVEGAAAQL PSLNNRLSYA VRKVHTIRGL IARKLALAQL
RQESCPLPPP VTDVSLELQQ LREERNRLDA ELQLSARLIQ QEVGRAREQG EAERQQLSKV
AQQLEQELQQ TQESLASLGL QLEVARQGQQ ESTEEAASLR QELTQQQELY GQALQEKVAE
VETRLREQLS DTERRLNEAR REHAKAVVSL RQIQRRAAQE KERSQELRRL QEEARKEEGQ
RLARRLQELE RDKNLMLATL QQEGLLSRYK QQRLLTVLPS LLDKKKSVVS SPRPPECSAS
APVAAAVPTR ESIKGSLSVL LDDLQDLSEA ISKEEAVCQG DNLDRCSSSN PQMSS*
mutated AA sequence MWPHSAGARP WASTLTGKDP RVMACWCLDG LPSGLAEPWR ELWRWRSRPL HCVPPFSPLA
RSSRDHRNLR RRGNIDGWRQ NLEPSNNVEM FPPSGHQDVS ERRLDTQRPQ VTMWERDVSS
DRQEPGRRGR SWGLEGSQAL SQQAEVIVRQ LQELRRLEEE VRLLRETSLQ QKMRLEAQAM
ELEALARAEK AGRAEAEGLR AALAGAEVVR KNLEEGSQRE LEEVQRLHQE QLSSLTQAHE
EALSSLTSKA EGLEKSLSSL ETRRAGEAKE LAEAQREAEL LRKQLSKTQE DLEAQVTLVE
NLRKYVGEQV PSEVHSQTWE LERQKLLDTM QHLQEDRDSL HATAELLQVR VQSLTHILAL
QEEELTRKVQ PSDSLEPEFT RKCQSLLNRW REKVFALMVQ LKAQELEHSD SVKQLKGQVA
SLQEKVTSQS QEQAILQRSL QDKAAEVEVE RMGAKGLQLE LSRAQEARRR WQQQTASAEE
QLRLVVNAVS SSQIWLETTM AKVEGAAAQL PSLNNRLSYA VRKVHTIRGL IARKLALAQL
RQESCPLPPP VTDVSLELQQ LREERNRLDA ELQLSARLIQ QEVGRAREQG EAERQQLSKV
AQQLEQELQQ TQESLASLGL QLEVARQGQQ ESTEEAASLR QELTQQQELY GQALQEKVAE
VETRLREQLS DTERRLNEAR REHAKAVVSL RQIQRRAAQE KERSQELRRL QEEARKEEGQ
RLARRLQELE RDKNLMLATL QQEGLLSRYK QQRLLTVLPS LLDKKKSVVS SPRPPECSAS
APVAAAVPTR ESIKGSLSVL LDDLQDLSEA ISKEEAVCQG DNLDRCSSSN PQMSS*
speed 1.00 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