Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999966 (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) chr5:434722G>CN/A show variant in all transcripts   IGV
HGNC symbol AHRR
Ensembl transcript ID ENST00000505113
Genbank transcript ID NM_001242412
UniProt peptide A9YTQ3
alteration type single base exchange
alteration region CDS
DNA changes c.1879G>C
cDNA.1923G>C
g.130432G>C
AA changes D627H Score: 81 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 627
frameshift no
known variant Reference ID: rs34453673
databasehomozygous (C/C)heterozygousallele carriers
1000G125526651
ExAC177175539324
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
PolII, Polymerase, RNA Polymerase II
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.3950
0.70.001
(flanking)0.0240
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 251
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      627HPAHCACLEPTDGLPQSEPPHQLC
mutated  not conserved    627HPAHCACLEPTHGLPQSEPPHQL
Ptroglodytes  no homologue    
Mmulatta  not conserved  ENSMMUG00000000752  655HPAHCACLEPMHGLAQPEPPHQL
Fcatus  not conserved  ENSFCAG00000015430  594RPAHCACLQHVRGLPEPDPPRHL
Mmusculus  not conserved  ENSMUSG00000021575  633YSAHCTCLDP-------EPPHHFFM
Ggallus  not conserved  ENSGALG00000013402  664CPQNSSACLESLPDQPHTEGYGQFYS
Trubripes  no alignment  ENSTRUG00000003745  n/a
Drerio  no alignment  ENSDARG00000052618  n/a
Dmelanogaster  no alignment  FBgn0003513  n/a
Celegans  no alignment  C41G7.5  n/a
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
551701REGIONNeeded for transcriptional repression (By similarity).lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2106 / 2106
position (AA) of stopcodon in wt / mu AA sequence 702 / 702
position of stopcodon in wt / mu cDNA 2150 / 2150
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 45 / 45
chromosome 5
strand 1
last intron/exon boundary 1169
theoretical NMD boundary in CDS 1074
length of CDS 2106
coding sequence (CDS) position 1879
cDNA position
(for ins/del: last normal base / first normal base)		 1923
gDNA position
(for ins/del: last normal base / first normal base)		 130432
chromosomal position
(for ins/del: last normal base / first normal base)		 434722
original gDNA sequence snippet GTGCCTGCCTGGAGCCCACAGACGGCCTTCCCCAGTCGGAG
altered gDNA sequence snippet GTGCCTGCCTGGAGCCCACACACGGCCTTCCCCAGTCGGAG
original cDNA sequence snippet GTGCCTGCCTGGAGCCCACAGACGGCCTTCCCCAGTCGGAG
altered cDNA sequence snippet GTGCCTGCCTGGAGCCCACACACGGCCTTCCCCAGTCGGAG
wildtype AA sequence MPRTMIPPGE CTYAGRKRRR PLQKQRPAVG AEKSNPSKRH RDRLNAELDH LASLLPFPPD
IISKLDKLSV LRLSVSYLRV KSFFQVVQEQ SSRQPAAGAP SPGDSCPLAG SAVLEGRLLL
ESLNGFALVV SAEGTIFYAS ATIVDYLGFH QTDVMHQNIY DYIHVDDRQD FCRQLHWAMD
PPQVVFGQPP PLETGDDAIL GRLLRAQEWG TGTPTEYSAF LTRCFICRVR CLLDSTSGFL
TMQFQGKLKF LFGQKKKAPS GAMLPPRLSL FCIAAPVLLP SAAEMKMRSA LLRAKPRADT
AATADAKVKA TTSLCESELH GKPNYSAGRS SRESGVLVLR EQTDAGRWAQ VPARAPCLCL
RGGPDLVLDP KGGSGDREEE QHRMLSRASG VTGRRETPGP TKPLPWTAGK HSEDGARPRL
QPSKNDPPSL RPMPRGSCLP CPCVQGTFRN SPISHPPSPS PSAYSSRTSR PMRDVGEDQV
HPPLCHFPQR SLQHQLPQPG AQRFATRGYP MEDMKLQGVP MPPGDLCGPT LLLDVSIKME
KDSGCEGAAD GCVPSQVWLG ASDRSHPATF PTRMHLKTEP DSRQQVYISH LGHGVRGAQP
HGRATAGRSR ELTPFHPAHC ACLEPTDGLP QSEPPHQLCA RGRGEQSCTC RAAEAAPVVK
REPLDSPQWA THSQGMVPGM LPKSALATLV PPQASGCTFL P*
mutated AA sequence MPRTMIPPGE CTYAGRKRRR PLQKQRPAVG AEKSNPSKRH RDRLNAELDH LASLLPFPPD
IISKLDKLSV LRLSVSYLRV KSFFQVVQEQ SSRQPAAGAP SPGDSCPLAG SAVLEGRLLL
ESLNGFALVV SAEGTIFYAS ATIVDYLGFH QTDVMHQNIY DYIHVDDRQD FCRQLHWAMD
PPQVVFGQPP PLETGDDAIL GRLLRAQEWG TGTPTEYSAF LTRCFICRVR CLLDSTSGFL
TMQFQGKLKF LFGQKKKAPS GAMLPPRLSL FCIAAPVLLP SAAEMKMRSA LLRAKPRADT
AATADAKVKA TTSLCESELH GKPNYSAGRS SRESGVLVLR EQTDAGRWAQ VPARAPCLCL
RGGPDLVLDP KGGSGDREEE QHRMLSRASG VTGRRETPGP TKPLPWTAGK HSEDGARPRL
QPSKNDPPSL RPMPRGSCLP CPCVQGTFRN SPISHPPSPS PSAYSSRTSR PMRDVGEDQV
HPPLCHFPQR SLQHQLPQPG AQRFATRGYP MEDMKLQGVP MPPGDLCGPT LLLDVSIKME
KDSGCEGAAD GCVPSQVWLG ASDRSHPATF PTRMHLKTEP DSRQQVYISH LGHGVRGAQP
HGRATAGRSR ELTPFHPAHC ACLEPTHGLP QSEPPHQLCA RGRGEQSCTC RAAEAAPVVK
REPLDSPQWA THSQGMVPGM LPKSALATLV PPQASGCTFL P*
speed 0.54 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