Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999974 (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) chr5:434722G>CN/A show variant in all transcripts   IGV
HGNC symbol AHRR
Ensembl transcript ID ENST00000512529
Genbank transcript ID N/A
UniProt peptide A9YTQ3
alteration type single base exchange
alteration region CDS
DNA changes c.1417G>C
cDNA.1626G>C
g.130432G>C
AA changes D473H Score: 81 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 473
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 287
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      473HPAHCACLEPTDGLPQSEPPHQLC
mutated  not conserved    473HPAHCACLEPTHGLPQSEP
Ptroglodytes  no homologue    
Mmulatta  not conserved  ENSMMUG00000000752  655HPAHCACLEPMHGLAQPEPPHQL
Fcatus  not conserved  ENSFCAG00000015430  594RPAHCACLQHVRGLPEPDPPRHL
Mmusculus  not conserved  ENSMUSG00000021575  633YSAHCTCLDP-------EPPHHFFM
Ggallus  not conserved  ENSGALG00000013402  660CPQNSSACLESLPDQPHTEGYGQFYS
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 no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1644 / 1644
position (AA) of stopcodon in wt / mu AA sequence 548 / 548
position of stopcodon in wt / mu cDNA 1853 / 1853
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 210 / 210
chromosome 5
strand 1
last intron/exon boundary 872
theoretical NMD boundary in CDS 612
length of CDS 1644
coding sequence (CDS) position 1417
cDNA position
(for ins/del: last normal base / first normal base)		 1626
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 MHQNIYDYIH VDDRQDFCRQ LHWAMDPPQV VFGQPPPLET GDDAILGRLL RAQEWGTGTP
TEYSAFLTRC FICRVRCLLD STSGFLTMQF QGKLKFLFGQ KKKAPSGAML PPRLSLFCIA
APVLLPSAAE MKMRSALLRA KPRADTAATA DAKVKATTSL CESELHGKPN YSAGRSSRES
GVLVLREQTD AGRWAQVPAR APCLCLRGGP DLVLDPKGGS GDREEEQHRM LSRASGVTGR
RETPGPTKPL PWTAGKHSED GARPRLQPSK NDPPSLRPMP RGSCLPCPCV QGTFRNSPIS
HPPSPSPSAY SSRTSRPMRD VGEDQVHPPL CHFPQRSLQH QLPQPGAQRF ATRGYPMEDM
KLQGVPMPPG DLCGPTLLLD VSIKMEKDSG CEGAADGCVP SQVWLGASDR SHPATFPTRM
HLKTEPDSRQ QVYISHLGHG VRGAQPHGRA TAGRSRELTP FHPAHCACLE PTDGLPQSEP
PHQLCARGRG EQSCTCRAAE AAPVVKREPL DSPQWATHSQ GMVPGMLPKS ALATLVPPQA
SGCTFLP*
mutated AA sequence MHQNIYDYIH VDDRQDFCRQ LHWAMDPPQV VFGQPPPLET GDDAILGRLL RAQEWGTGTP
TEYSAFLTRC FICRVRCLLD STSGFLTMQF QGKLKFLFGQ KKKAPSGAML PPRLSLFCIA
APVLLPSAAE MKMRSALLRA KPRADTAATA DAKVKATTSL CESELHGKPN YSAGRSSRES
GVLVLREQTD AGRWAQVPAR APCLCLRGGP DLVLDPKGGS GDREEEQHRM LSRASGVTGR
RETPGPTKPL PWTAGKHSED GARPRLQPSK NDPPSLRPMP RGSCLPCPCV QGTFRNSPIS
HPPSPSPSAY SSRTSRPMRD VGEDQVHPPL CHFPQRSLQH QLPQPGAQRF ATRGYPMEDM
KLQGVPMPPG DLCGPTLLLD VSIKMEKDSG CEGAADGCVP SQVWLGASDR SHPATFPTRM
HLKTEPDSRQ QVYISHLGHG VRGAQPHGRA TAGRSRELTP FHPAHCACLE PTHGLPQSEP
PHQLCARGRG EQSCTCRAAE AAPVVKREPL DSPQWATHSQ GMVPGMLPKS ALATLVPPQA
SGCTFLP*
speed 0.99 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