Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.000856063996249482 (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
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr1:47280859G>AN/A show variant in all transcripts   IGV
HGNC symbol CYP4B1
Ensembl transcript ID ENST00000271153
Genbank transcript ID NM_000779
UniProt peptide P13584
alteration type single base exchange
alteration region CDS
DNA changes c.993G>A
cDNA.1029G>A
g.57350G>A
AA changes M331I Score: 10 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 331
frameshift no
known variant Reference ID: rs2297810
databasehomozygous (A/A)heterozygousallele carriers
1000G2508561106
ExAC26691784920518
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)5.1741
2.6211
(flanking)3.5071
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased57351wt: 0.3811 / mu: 0.3977 (marginal change - not scored)wt: CCTGGTTTCTCTACTGCATGGCCCTGTACCCTGAGCACCAG
mu: CCTGGTTTCTCTACTGCATAGCCCTGTACCCTGAGCACCAG		 atgg|CCCT
Acc marginally increased57341wt: 0.2820 / mu: 0.3492 (marginal change - not scored)wt: AGTGGTATCTCCTGGTTTCTCTACTGCATGGCCCTGTACCC
mu: AGTGGTATCTCCTGGTTTCTCTACTGCATAGCCCTGTACCC		 tctc|TACT
Acc marginally increased57347wt: 0.9543 / mu: 0.9710 (marginal change - not scored)wt: ATCTCCTGGTTTCTCTACTGCATGGCCCTGTACCCTGAGCA
mu: ATCTCCTGGTTTCTCTACTGCATAGCCCTGTACCCTGAGCA		 ctgc|ATGG
Acc marginally increased57344wt: 0.7932 / mu: 0.8020 (marginal change - not scored)wt: GGTATCTCCTGGTTTCTCTACTGCATGGCCCTGTACCCTGA
mu: GGTATCTCCTGGTTTCTCTACTGCATAGCCCTGTACCCTGA		 ctac|TGCA
Acc marginally increased57359wt: 0.4657 / mu: 0.4702 (marginal change - not scored)wt: CTCTACTGCATGGCCCTGTACCCTGAGCACCAGCATCGTTG
mu: CTCTACTGCATAGCCCTGTACCCTGAGCACCAGCATCGTTG		 gtac|CCTG
Donor increased57350wt: 0.21 / mu: 0.81wt: TGCATGGCCCTGTAC
mu: TGCATAGCCCTGTAC		 CATG|gccc
Donor gained573450.99mu: TCTACTGCATAGCCC TACT|gcat
distance from splice site 78
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      331TTSGISWFLYCMALYPEHQHRCRE
mutated  all conserved    331TTSGISWFLYCIALYPEHQHRCR
Ptroglodytes  all identical  ENSPTRG00000000702  226TTSGISWFLYCMALYPEHQHRCR
Mmulatta  all identical  ENSMMUG00000019873  331TTSGISWFLYCMALYPEHQHRCR
Fcatus  all identical  ENSFCAG00000002762  272TTSGISWFLYCMALYPEHQSRCR
Mmusculus  all identical  ENSMUSG00000028713  331TTSGISWFLYCMALYPMHQQRCR
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  all conserved  ENSDARG00000004964  332TASGISWIFYNLACNPEHQEKCR
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000016349  335TASGISWILYCMAKYPEHQQKCR
protein features
start (aa)end (aa)featuredetails 
453453METALIron (heme axial ligand).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1536 / 1536
position (AA) of stopcodon in wt / mu AA sequence 512 / 512
position of stopcodon in wt / mu cDNA 1572 / 1572
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 37 / 37
chromosome 1
strand 1
last intron/exon boundary 1389
theoretical NMD boundary in CDS 1302
length of CDS 1536
coding sequence (CDS) position 993
cDNA position
(for ins/del: last normal base / first normal base)		 1029
gDNA position
(for ins/del: last normal base / first normal base)		 57350
chromosomal position
(for ins/del: last normal base / first normal base)		 47280859
original gDNA sequence snippet TCCTGGTTTCTCTACTGCATGGCCCTGTACCCTGAGCACCA
altered gDNA sequence snippet TCCTGGTTTCTCTACTGCATAGCCCTGTACCCTGAGCACCA
original cDNA sequence snippet TCCTGGTTTCTCTACTGCATGGCCCTGTACCCTGAGCACCA
altered cDNA sequence snippet TCCTGGTTTCTCTACTGCATAGCCCTGTACCCTGAGCACCA
wildtype AA sequence MVPSFLSLSF SSLGLWASGL ILVLGFLKLI HLLLRRQTLA KAMDKFPGPP THWLFGHALE
IQETGSLDKV VSWAHQFPYA HPLWFGQFIG FLNIYEPDYA KAVYSRGDPK APDVYDFFLQ
WIGRGLLVLE GPKWLQHRKL LTPGFHYDVL KPYVAVFTES TRIMLDKWEE KAREGKSFDI
FCDVGHMALN TLMKCTFGRG DTGLGHRDSS YYLAVSDLTL LMQQRLVSFQ YHNDFIYWLT
PHGRRFLRAC QVAHDHTDQV IRERKAALQD EKVRKKIQNR RHLDFLDILL GARDEDDIKL
SDADLRAEVD TFMFEGHDTT TSGISWFLYC MALYPEHQHR CREEVREILG DQDFFQWDDL
GKMTYLTMCI KESFRLYPPV PQVYRQLSKP VTFVDGRSLP AGSLISMHIY ALHRNSAVWP
DPEVFDSLRF STENASKRHP FAFMPFSAGP RNCIGQQFAM SEMKVVTAMC LLRFEFSLDP
SRLPIKMPQL VLRSKNGFHL HLKPLGPGSG K*
mutated AA sequence MVPSFLSLSF SSLGLWASGL ILVLGFLKLI HLLLRRQTLA KAMDKFPGPP THWLFGHALE
IQETGSLDKV VSWAHQFPYA HPLWFGQFIG FLNIYEPDYA KAVYSRGDPK APDVYDFFLQ
WIGRGLLVLE GPKWLQHRKL LTPGFHYDVL KPYVAVFTES TRIMLDKWEE KAREGKSFDI
FCDVGHMALN TLMKCTFGRG DTGLGHRDSS YYLAVSDLTL LMQQRLVSFQ YHNDFIYWLT
PHGRRFLRAC QVAHDHTDQV IRERKAALQD EKVRKKIQNR RHLDFLDILL GARDEDDIKL
SDADLRAEVD TFMFEGHDTT TSGISWFLYC IALYPEHQHR CREEVREILG DQDFFQWDDL
GKMTYLTMCI KESFRLYPPV PQVYRQLSKP VTFVDGRSLP AGSLISMHIY ALHRNSAVWP
DPEVFDSLRF STENASKRHP FAFMPFSAGP RNCIGQQFAM SEMKVVTAMC LLRFEFSLDP
SRLPIKMPQL VLRSKNGFHL HLKPLGPGSG K*
speed 1.23 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