Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.0413074889693856 (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
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr2:28761981G>CN/A show variant in all transcripts   IGV
HGNC symbol PLB1
Ensembl transcript ID ENST00000422425
Genbank transcript ID NM_001170585
UniProt peptide Q6P1J6
alteration type single base exchange
alteration region CDS
DNA changes c.667G>C
cDNA.711G>C
g.81970G>C
AA changes V223L Score: 32 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 223
frameshift no
known variant Reference ID: rs6753929
databasehomozygous (C/C)heterozygousallele carriers
1000G115769884
ExAC40352240626441
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
PU1, Transcription Factor, PU1 Transcription Factor Binding
Promoter Associated, Regulatory Feature, Promoter like regulatory feature
SP1, Transcription Factor, SP1 Transcription Factor Binding
USF1, Transcription Factor, USF1 Transcription Factor Binding
phyloP / phastCons
PhyloPPhastCons
(flanking)1.4550.997
3.3091
(flanking)2.7821
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 increased81962wt: 0.2939 / mu: 0.3321 (marginal change - not scored)wt: TGTGTCCTCCTAGGTCCCCAGAGCATTTGTAAACCTGGTGG
mu: TGTGTCCTCCTAGGTCCCCAGAGCATTTCTAAACCTGGTGG		 ccag|AGCA
Acc marginally increased81961wt: 0.4642 / mu: 0.5073 (marginal change - not scored)wt: GTGTGTCCTCCTAGGTCCCCAGAGCATTTGTAAACCTGGTG
mu: GTGTGTCCTCCTAGGTCCCCAGAGCATTTCTAAACCTGGTG		 ccca|GAGC
distance from splice site 16
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      223DYLQQEVPRAFVNLVDLSEVAEVS
mutated  all conserved    223DYLQQEVPRAFLNLVDLSEVAEV
Ptroglodytes  all identical  ENSPTRG00000011786  224DYLQQEVPRAFVNLVDLSEVAEV
Mmulatta  no alignment  ENSMMUG00000008352  n/a
Fcatus  all identical  ENSFCAG00000005165  213VPKAFVNLVDLSEALVV
Mmusculus  all identical  ENSMUSG00000029134  230DYLHHEVPRAFVNLVDLSEV
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000096445  153KLKHTLVHVV-------V
Dmelanogaster  no alignment  FBgn0036939  n/a
Celegans  no alignment  F09C8.1  n/a
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
221417TOPO_DOMExtracellular (Potential).lost
39347REPEAT1.lost
391402REGION4 X 308-326 AA approximate repeats.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 4344 / 4344
position (AA) of stopcodon in wt / mu AA sequence 1448 / 1448
position of stopcodon in wt / mu cDNA 4388 / 4388
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 2
strand 1
last intron/exon boundary 4185
theoretical NMD boundary in CDS 4090
length of CDS 4344
coding sequence (CDS) position 667
cDNA position
(for ins/del: last normal base / first normal base)		 711
gDNA position
(for ins/del: last normal base / first normal base)		 81970
chromosomal position
(for ins/del: last normal base / first normal base)		 28761981
original gDNA sequence snippet CCTAGGTCCCCAGAGCATTTGTAAACCTGGTGGACCTCTCT
altered gDNA sequence snippet CCTAGGTCCCCAGAGCATTTCTAAACCTGGTGGACCTCTCT
original cDNA sequence snippet AGGAGGTCCCCAGAGCATTTGTAAACCTGGTGGACCTCTCT
altered cDNA sequence snippet AGGAGGTCCCCAGAGCATTTCTAAACCTGGTGGACCTCTCT
wildtype AA sequence MGLRPGIFLL ELLLLLGQGT PQIHTSPRKS TLEGQLWPET LKNSPFPCNP NKLGVNMPSK
SVHSLKPSDI KFVAAIGNLE IPPDPGTGDL EKQDWTERPQ QVCMGVMTVL SDIIRYFSPS
VPMPVCHTGK RVIPHDGAED LWIQAQELVR NMKENLQLDF QFDWKLINVF FSNASQCYLC
PSAQQAPSLS TVLLSQNGLA AGGVDELMGV LDYLQQEVPR AFVNLVDLSE VAEVSRQYHG
TWLSPAPEPC NCSEETTRLA KVVMQWSYQE AWNSLLASSR YSEQESFTVV FQPFFYETTP
SLHSEDPRLQ DSTTLAWHLW NRMMEPAGEK DEPLSVKHGR PMKCPSQESP YLFSYRNSNY
LTRLQKPQDK LEVREGAEIR CPDKDPSDTV PTSVHRLKPA DINVIGALGD SLTAGNGAGS
TPGNVLDVLT QYRGLSWSVG GDENIGTVTT LANILREFNP SLKGFSVGTG KETSPNAFLN
QAVAGGRAED LPVQARRLVD LMKNDTRIHF QEDWKIITLF IGGNDLCDFC NDLVPRAFVN
LVTVLEIVNL RELYQEKKVY CPRMILRSLC PCVLKFDDNS TELATLIEFN KKFQEKTHQL
IESGRYDTRE DFTVVVQPFF ENVDMPKTSE GLPDNSFFAP DCFHFSSKSH SRAASALWNN
MLEPVGQKTT RHKFENKINI TCPNQVQPFL RTYKNSMQGH GTWLPCRDRA PSALHPTSVH
ALRPADIQVV AALGDSLTAG NGIGSKPDDL PDVTTQYRGL SYSAGGDGSL ENVTTLPNIL
REFNRNLTGY AVGTGDANDT NAFLNQAVPG AKAEDLMSQV QTLMQKMKDD HRVNFHEDWK
VITVLIGGSD LCDYCTDSNL YSAANFVHHL RNALDVLHRE VPRVLVNLVD FLNPTIMRQV
FLGNPDKCPV QQASVLCNCV LTLRENSQEL ARLEAFSRAY RSSMRELVGS GRYDTQEDFS
VVLQPFFQNI QLPVLADGLP DTSFFAPDCI HPNQKFHSQL ARALWTNMLE PLGSKTETLD
LRAEMPITCP TQNEPFLRTP RNSNYTYPIK PAIENWGSDF LCTEWKASNS VPTSVHQLRP
ADIKVVAALG DSLTTAVGAR PNNSSDLPTS WRGLSWSIGG DGNLETHTTL PNILKKFNPY
LLGFSTSTWE GTAGLNVAAE GARARDMPAQ AWDLVERMKN SPDINLEKDW KLVTLFIGVN
DLCHYCENPE AHLATEYVQH IQQALDILSE ELPRAFVNVV EVMELASLYQ GQGGKCAMLA
AQNNCTCLRH SQSSLEKQEL KKVNWNLQHG ISSFSYWHQY TQREDFAVVV QPFFQNTLTP
LNERGDTDLT FFSEDCFHFS DRGHAEMAIA LWNNMLEPVG RKTTSNNFTH SRAKLKCPSP
ESPYLYTLRN SRLLPDQAEE APEVLYWAVP VAAGVGLVVG IIGTVVWRCR RGGRREDPPM
SLRTVAL*
mutated AA sequence MGLRPGIFLL ELLLLLGQGT PQIHTSPRKS TLEGQLWPET LKNSPFPCNP NKLGVNMPSK
SVHSLKPSDI KFVAAIGNLE IPPDPGTGDL EKQDWTERPQ QVCMGVMTVL SDIIRYFSPS
VPMPVCHTGK RVIPHDGAED LWIQAQELVR NMKENLQLDF QFDWKLINVF FSNASQCYLC
PSAQQAPSLS TVLLSQNGLA AGGVDELMGV LDYLQQEVPR AFLNLVDLSE VAEVSRQYHG
TWLSPAPEPC NCSEETTRLA KVVMQWSYQE AWNSLLASSR YSEQESFTVV FQPFFYETTP
SLHSEDPRLQ DSTTLAWHLW NRMMEPAGEK DEPLSVKHGR PMKCPSQESP YLFSYRNSNY
LTRLQKPQDK LEVREGAEIR CPDKDPSDTV PTSVHRLKPA DINVIGALGD SLTAGNGAGS
TPGNVLDVLT QYRGLSWSVG GDENIGTVTT LANILREFNP SLKGFSVGTG KETSPNAFLN
QAVAGGRAED LPVQARRLVD LMKNDTRIHF QEDWKIITLF IGGNDLCDFC NDLVPRAFVN
LVTVLEIVNL RELYQEKKVY CPRMILRSLC PCVLKFDDNS TELATLIEFN KKFQEKTHQL
IESGRYDTRE DFTVVVQPFF ENVDMPKTSE GLPDNSFFAP DCFHFSSKSH SRAASALWNN
MLEPVGQKTT RHKFENKINI TCPNQVQPFL RTYKNSMQGH GTWLPCRDRA PSALHPTSVH
ALRPADIQVV AALGDSLTAG NGIGSKPDDL PDVTTQYRGL SYSAGGDGSL ENVTTLPNIL
REFNRNLTGY AVGTGDANDT NAFLNQAVPG AKAEDLMSQV QTLMQKMKDD HRVNFHEDWK
VITVLIGGSD LCDYCTDSNL YSAANFVHHL RNALDVLHRE VPRVLVNLVD FLNPTIMRQV
FLGNPDKCPV QQASVLCNCV LTLRENSQEL ARLEAFSRAY RSSMRELVGS GRYDTQEDFS
VVLQPFFQNI QLPVLADGLP DTSFFAPDCI HPNQKFHSQL ARALWTNMLE PLGSKTETLD
LRAEMPITCP TQNEPFLRTP RNSNYTYPIK PAIENWGSDF LCTEWKASNS VPTSVHQLRP
ADIKVVAALG DSLTTAVGAR PNNSSDLPTS WRGLSWSIGG DGNLETHTTL PNILKKFNPY
LLGFSTSTWE GTAGLNVAAE GARARDMPAQ AWDLVERMKN SPDINLEKDW KLVTLFIGVN
DLCHYCENPE AHLATEYVQH IQQALDILSE ELPRAFVNVV EVMELASLYQ GQGGKCAMLA
AQNNCTCLRH SQSSLEKQEL KKVNWNLQHG ISSFSYWHQY TQREDFAVVV QPFFQNTLTP
LNERGDTDLT FFSEDCFHFS DRGHAEMAIA LWNNMLEPVG RKTTSNNFTH SRAKLKCPSP
ESPYLYTLRN SRLLPDQAEE APEVLYWAVP VAAGVGLVVG IIGTVVWRCR RGGRREDPPM
SLRTVAL*
speed 0.56 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