Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999139582 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
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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 ENST00000376266
Genbank transcript ID NM_019052
UniProt peptide Q8TD31
alteration type single base exchange
alteration region CDS
DNA changes c.1249C>T
cDNA.1372C>T
g.9770C>T
AA changes R417W Score: 101 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 417
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      417LELSRAQEARRRWQQQTASAEEQL
mutated  not conserved    417LELSRAQEARRWWQQ
Ptroglodytes  all identical  ENSPTRG00000017951  420YTRHSKSFGNEGRH
Mmulatta  all identical  ENSMMUG00000015679  73LELSRAQEARRRWQQQTTSAEEQ
Fcatus  no alignment  ENSFCAG00000019136  n/a
Mmusculus  all identical  ENSMUSG00000040312  500MELDQAQEARRRQEQ
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000024080  404KSDHLASKVEMTDKA
protein features
start (aa)end (aa)featuredetails 
344437COILEDPotential.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2349 / 2349
position (AA) of stopcodon in wt / mu AA sequence 783 / 783
position of stopcodon in wt / mu cDNA 2472 / 2472
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 124 / 124
chromosome 6
strand -1
last intron/exon boundary 2348
theoretical NMD boundary in CDS 2174
length of CDS 2349
coding sequence (CDS) position 1249
cDNA position
(for ins/del: last normal base / first normal base)		 1372
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 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 LVVNAVSSSQ IWLETTMAKV EGAAAQLPSL NNRLSYAVRK VHTIRGLIAR
KLALAQLRQE SCPLPPPVTD VSLELQQLRE ERNRLDAELQ LSARLIQQEV GRAREQGEAE
RQQLSKVAQQ LEQELQQTQE SLASLGLQLE VARQGQQEST EEAASLRQEL TQQQELYGQA
LQEKVAEVET RLREQLSDTE RRLNEARREH AKAVVSLRQI QRRAAQEKER SQELRRLQEE
ARKEEGQRLA RRLQELERDK NLMLATLQQE GLLSRYKQQR LLTVLPSLLD KKKSVVSSPR
PPECSASAPV AAAVPTRESI KGSLSVLLDD LQDLSEAISK EEAVCQGDNL DRCSSSNPQM
SS*
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 QKLLETMQHL QEDRDSLHAT AELLQVRVQS
LTHILALQEE ELTRKVQPSD SLEPEFTRKC QSLLNRWREK VFALMVQLKA QELEHSDSVK
QLKGQVASLQ EKVTSQSQEQ AILQRSLQDK AAEVEVERMG AKGLQLELSR AQEARRWWQQ
QTASAEEQLR LVVNAVSSSQ IWLETTMAKV EGAAAQLPSL NNRLSYAVRK VHTIRGLIAR
KLALAQLRQE SCPLPPPVTD VSLELQQLRE ERNRLDAELQ LSARLIQQEV GRAREQGEAE
RQQLSKVAQQ LEQELQQTQE SLASLGLQLE VARQGQQEST EEAASLRQEL TQQQELYGQA
LQEKVAEVET RLREQLSDTE RRLNEARREH AKAVVSLRQI QRRAAQEKER SQELRRLQEE
ARKEEGQRLA RRLQELERDK NLMLATLQQE GLLSRYKQQR LLTVLPSLLD KKKSVVSSPR
PPECSASAPV AAAVPTRESI KGSLSVLLDD LQDLSEAISK EEAVCQGDNL DRCSSSNPQM
SS*
speed 1.24 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