Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999997406294 (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) chr6:31116246G>AN/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.1408C>T
cDNA.1415C>T
g.9770C>T
AA changes R470W Score: 101 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 470
frameshift no
known variant Reference ID: rs130068
databasehomozygous (A/A)heterozygousallele carriers
1000G41412251639
ExAC11542968321225
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.0240.018
0.0820.004
(flanking)0.1760.001
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 43
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      470LELSRAQEARRRWQQQTASAEEQL
mutated  not conserved    470LELSRAQEARRWWQQQTASAEE
Ptroglodytes  all identical  ENSPTRG00000017951  420NRLSYAGVVYTRHSKSFGNEGRH
Mmulatta  all identical  ENSMMUG00000015679  73LELSRAQEARRRWQQQTTSAEEQ
Fcatus  no alignment  ENSFCAG00000019136  n/a
Mmusculus  all identical  ENSMUSG00000040312  500MELDQAQEARRRQEQQIASAEEQ
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000024080  404DELSAAKAKSDHLASKVEMTDKA
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 1408
cDNA position
(for ins/del: last normal base / first normal base)		 1415
gDNA position
(for ins/del: last normal base / first normal base)		 9770
chromosomal position
(for ins/del: last normal base / first normal base)		 31116246
original gDNA sequence snippet GTGCTCAGGAGGCCAGGCGTCGGTGGCAGCAGCAGACAGCC
altered gDNA sequence snippet GTGCTCAGGAGGCCAGGCGTTGGTGGCAGCAGCAGACAGCC
original cDNA sequence snippet GTGCTCAGGAGGCCAGGCGTCGGTGGCAGCAGCAGACAGCC
altered cDNA sequence snippet GTGCTCAGGAGGCCAGGCGTTGGTGGCAGCAGCAGACAGCC
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 LERQKLLETM QHLQEDRDSL HATAELLQVR VQSLTHILAL
QEEELTRKVQ PSDSLEPEFT RKCQSLLNRW REKVFALMVQ LKAQELEHSD SVKQLKGQVA
SLQEKVTSQS QEQAILQRSL QDKAAEVEVE RMGAKGLQLE LSRAQEARRW 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 1.28 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