Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.998607451574599 (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) chr12:89917518A>GN/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.800T>C
cDNA.1103T>C
g.2522T>C
AA changes I267T Score: 89 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 267
frameshift no
known variant Reference ID: rs2230281
databasehomozygous (G/G)heterozygousallele carriers
1000G13579602317
ExAC28473-241794294
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K4me1, Histone, Histone 3 Lysine 4 Mono-Methylation
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K9me1, Histone, Histone 3 Lysine 9 mono-methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-3.6970.002
2.370.955
(flanking)1.0960.972
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased2514wt: 0.40 / mu: 0.52wt: TGGAATACTTTTGAATTCTATATGCAGATAGGGGAGCCCAT
mu: TGGAATACTTTTGAATTCTATATGCAGACAGGGGAGCCCAT		 ctat|ATGC
Acc marginally increased2516wt: 0.9299 / mu: 0.9522 (marginal change - not scored)wt: GAATACTTTTGAATTCTATATGCAGATAGGGGAGCCCATGA
mu: GAATACTTTTGAATTCTATATGCAGACAGGGGAGCCCATGA		 atat|GCAG
Donor marginally increased2523wt: 0.9777 / mu: 0.9957 (marginal change - not scored)wt: CAGATAGGGGAGCCC
mu: CAGACAGGGGAGCCC		 GATA|gggg
Donor marginally increased2519wt: 0.9385 / mu: 0.9562 (marginal change - not scored)wt: TATGCAGATAGGGGA
mu: TATGCAGACAGGGGA		 TGCA|gata
distance from splice site 700
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      267IDWNTFEFYMQIGEPMIGGFDWRL
mutated  not conserved    267IDWNTFEFYMQTGEPMIGGFDWR
Ptroglodytes  no homologue    
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000090035  270TFEFYMQTGEPMIGGFDWR
Ggallus  no alignment  ENSGALG00000011215  n/a
Trubripes  not conserved  ENSTRUG00000011585  276IDWNTFEFYMQTEEPMIGGF
Drerio  not conserved  ENSDARG00000012745  275IDWNTFEFYMQTEEPMVGGFDWR
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
36578TOPO_DOMLumenal (Potential).lost
303365REGIONCatalytic subdomain B.might get lost (downstream of altered splice site)
444577DOMAINRicin B-type lectin.might get lost (downstream of altered splice site)
457457DISULFIDBy similarity.might get lost (downstream of altered splice site)
459459MUTAGEND->H: Affects the glycopeptide specificity and abolishes ability to glycosylate Muc1, Muc2 and Muc5AC.might get lost (downstream of altered splice site)
471471CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
477477DISULFIDBy similarity.might get lost (downstream of altered splice site)
503503DISULFIDBy similarity.might get lost (downstream of altered splice site)
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 800
cDNA position
(for ins/del: last normal base / first normal base)		 1103
gDNA position
(for ins/del: last normal base / first normal base)		 2522
chromosomal position
(for ins/del: last normal base / first normal base)		 89917518
original gDNA sequence snippet TTTTGAATTCTATATGCAGATAGGGGAGCCCATGATTGGTG
altered gDNA sequence snippet TTTTGAATTCTATATGCAGACAGGGGAGCCCATGATTGGTG
original cDNA sequence snippet TTTTGAATTCTATATGCAGATAGGGGAGCCCATGATTGGTG
altered cDNA sequence snippet TTTTGAATTCTATATGCAGACAGGGGAGCCCATGATTGGTG
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 FEFYMQTGEP 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*
speed 1.27 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