Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 1.54169394872985e-05 (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) chr12:89916811C>TN/A show variant in all transcripts   IGV
HGNC symbol POC1B-GALNT4
Ensembl transcript ID ENST00000548729
Genbank transcript ID NM_001199781
UniProt peptide Q8N4A0
alteration type single base exchange
alteration region CDS
DNA changes c.1507G>A
cDNA.1810G>A
g.3229G>A
AA changes V503I Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 503
frameshift no
known variant Reference ID: rs2230283
databasehomozygous (T/T)heterozygousallele carriers
1000G138752890
ExAC49282291127839
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K4me1, Histone, Histone 3 Lysine 4 Mono-Methylation
H3K9me1, Histone, Histone 3 Lysine 9 mono-methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)2.2450.992
5.6530.996
(flanking)0.2190.536
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased3231wt: 0.27 / mu: 0.66wt: GAGGTACCTGAGCAA
mu: GAGATACCTGAGCAA		 GGTA|cctg
Donor marginally increased3227wt: 0.9004 / mu: 0.9102 (marginal change - not scored)wt: TGCAGAGGTACCTGA
mu: TGCAGAGATACCTGA		 CAGA|ggta
Donor marginally increased3220wt: 0.2734 / mu: 0.2799 (marginal change - not scored)wt: AGTTATGTGCAGAGG
mu: AGTTATGTGCAGAGA		 TTAT|gtgc
Donor marginally increased3222wt: 0.9712 / mu: 0.9751 (marginal change - not scored)wt: TTATGTGCAGAGGTA
mu: TTATGTGCAGAGATA		 ATGT|gcag
Donor gained32250.74mu: TGTGCAGAGATACCT TGCA|gaga
distance from splice site 1407
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      503RFNSVTELCAEVPEQKNYVGMQNC
mutated  all conserved    503RFNSVTELCAEIPEQKNYVGMQN
Ptroglodytes  no homologue    
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000090035  506CAEVPQQKDYVGMQN
Ggallus  no alignment  ENSGALG00000011215  n/a
Trubripes  all identical  ENSTRUG00000011585  512RFNTVTELCAEVVEGRASIGMKH
Drerio  all identical  ENSDARG00000012745  511RFNSVTELCAEVQDGMTHIGMKH
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
36578TOPO_DOMLumenal (Potential).lost
444577DOMAINRicin B-type lectin.lost
503503DISULFIDBy similarity.lost
518518DISULFIDBy similarity.might get lost (downstream of altered splice site)
547547DISULFIDBy similarity.might get lost (downstream of altered splice site)
565565DISULFIDBy similarity.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1728 / 1728
position (AA) of stopcodon in wt / mu AA sequence 576 / 576
position of stopcodon in wt / mu cDNA 2031 / 2031
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 304 / 304
chromosome 12
strand -1
last intron/exon boundary 404
theoretical NMD boundary in CDS 50
length of CDS 1728
coding sequence (CDS) position 1507
cDNA position
(for ins/del: last normal base / first normal base)		 1810
gDNA position
(for ins/del: last normal base / first normal base)		 3229
chromosomal position
(for ins/del: last normal base / first normal base)		 89916811
original gDNA sequence snippet TGACAGAGTTATGTGCAGAGGTACCTGAGCAAAAAAATTAT
altered gDNA sequence snippet TGACAGAGTTATGTGCAGAGATACCTGAGCAAAAAAATTAT
original cDNA sequence snippet TGACAGAGTTATGTGCAGAGGTACCTGAGCAAAAAAATTAT
altered cDNA sequence snippet TGACAGAGTTATGTGCAGAGATACCTGAGCAAAAAAATTAT
wildtype AA sequence MASATEDPVL ERYFKGHKAA ITSLDLSPNG KQLGAGRARE LGSRRLSDLQ KNTEDLSRPL
YKKPPADSRA LGEWGKASKL QLNEDELKQQ EELIERYAIN IYLSDRISLH RHIEDKRMYE
CKSQKFNYRT LPTTSVIIAF YNEAWSTLLR TIHSVLETSP AVLLKEIILV DDLSDRVYLK
TQLETYISNL DRVRLIRTNK REGLVRARLI GATFATGDVL TFLDCHCECN SGWLEPLLER
IGRDETAVVC PVIDTIDWNT FEFYMQIGEP MIGGFDWRLT FQWHSVPKQE RDRRISRIDP
IRSPTMAGGL FAVSKKYFQY LGTYDTGMEV WGGENLELSF RVWQCGGKLE IHPCSHVGHV
FPKRAPYARP NFLQNTARAA EVWMDEYKEH FYNRNPPARK EAYGDISERK LLRERLRCKS
FDWYLKNVFP NLHVPEDRPG WHGAIRSRGI SSECLDYNSP DNNPTGANLS LFGCHGQGGN
QFFEYTSNKE IRFNSVTELC AEVPEQKNYV GMQNCPKDGF PVPANIIWHF KEDGTIFHPH
SGLCLSAYRT PEGRPDVQMR TCDALDKNQI WSFEK*
mutated AA sequence MASATEDPVL ERYFKGHKAA ITSLDLSPNG KQLGAGRARE LGSRRLSDLQ KNTEDLSRPL
YKKPPADSRA LGEWGKASKL QLNEDELKQQ EELIERYAIN IYLSDRISLH RHIEDKRMYE
CKSQKFNYRT LPTTSVIIAF YNEAWSTLLR TIHSVLETSP AVLLKEIILV DDLSDRVYLK
TQLETYISNL DRVRLIRTNK REGLVRARLI GATFATGDVL TFLDCHCECN SGWLEPLLER
IGRDETAVVC PVIDTIDWNT FEFYMQIGEP MIGGFDWRLT FQWHSVPKQE RDRRISRIDP
IRSPTMAGGL FAVSKKYFQY LGTYDTGMEV WGGENLELSF RVWQCGGKLE IHPCSHVGHV
FPKRAPYARP NFLQNTARAA EVWMDEYKEH FYNRNPPARK EAYGDISERK LLRERLRCKS
FDWYLKNVFP NLHVPEDRPG WHGAIRSRGI SSECLDYNSP DNNPTGANLS LFGCHGQGGN
QFFEYTSNKE IRFNSVTELC AEIPEQKNYV GMQNCPKDGF PVPANIIWHF KEDGTIFHPH
SGLCLSAYRT PEGRPDVQMR TCDALDKNQI WSFEK*
speed 0.53 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