Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999822527416778 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr12:9303296A>TN/A show variant in all transcripts   IGV
HGNC symbol PZP
Ensembl transcript ID ENST00000261336
Genbank transcript ID NM_002864
UniProt peptide P20742
alteration type single base exchange
alteration region CDS
DNA changes c.4328T>A
cDNA.4357T>A
g.57671T>A
AA changes I1443N Score: 194 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1443
frameshift no
known variant Reference ID: rs10842971
databasehomozygous (T/T)heterozygousallele carriers
1000G121712833
ExAC48972272827625
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.3120.397
3.8470.411
(flanking)-0.7950.011
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 increased57666wt: 0.8075 / mu: 0.8144 (marginal change - not scored)wt: TTTTCCTTCATGGTTCTGCAAGACATCCCAGTAGGAGACTT
mu: TTTTCCTTCATGGTTCTGCAAGACAACCCAGTAGGAGACTT		 gcaa|GACA
Acc marginally increased57662wt: 0.3394 / mu: 0.3466 (marginal change - not scored)wt: AAGTTTTTCCTTCATGGTTCTGCAAGACATCCCAGTAGGAG
mu: AAGTTTTTCCTTCATGGTTCTGCAAGACAACCCAGTAGGAG		 ttct|GCAA
Acc marginally increased57664wt: 0.7811 / mu: 0.8038 (marginal change - not scored)wt: GTTTTTCCTTCATGGTTCTGCAAGACATCCCAGTAGGAGAC
mu: GTTTTTCCTTCATGGTTCTGCAAGACAACCCAGTAGGAGAC		 ctgc|AAGA
Donor increased57666wt: 0.81 / mu: 0.99wt: CTGCAAGACATCCCA
mu: CTGCAAGACAACCCA		 GCAA|gaca
Donor increased57670wt: 0.72 / mu: 0.81wt: AAGACATCCCAGTAG
mu: AAGACAACCCAGTAG		 GACA|tccc
Donor increased57675wt: 0.34 / mu: 0.56wt: ATCCCAGTAGGAGAC
mu: AACCCAGTAGGAGAC		 CCCA|gtag
distance from splice site 47
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1443TLSFSFMVLQDIPVGDLKPAIVKV
mutated  not conserved    1443QDNPVGDLKPAIVK
Ptroglodytes  all identical  ENSPTRG00000004652  1443QDIPVGDLKPAIVK
Mmulatta  no homologue    
Fcatus  all identical  ENSFCAG00000005067  1187TLSLSFTVLQDIPVRDLKPAIVK
Mmusculus  no homologue    
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  not conserved  ZK337.1  1434PVCLSLYSDVTYQVADQKPANFR
Xtropicalis  no homologue    
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 4449 / 4449
position (AA) of stopcodon in wt / mu AA sequence 1483 / 1483
position of stopcodon in wt / mu cDNA 4478 / 4478
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 30 / 30
chromosome 12
strand -1
last intron/exon boundary 4456
theoretical NMD boundary in CDS 4376
length of CDS 4449
coding sequence (CDS) position 4328
cDNA position
(for ins/del: last normal base / first normal base)		 4357
gDNA position
(for ins/del: last normal base / first normal base)		 57671
chromosomal position
(for ins/del: last normal base / first normal base)		 9303296
original gDNA sequence snippet CTTCATGGTTCTGCAAGACATCCCAGTAGGAGACTTGAAGC
altered gDNA sequence snippet CTTCATGGTTCTGCAAGACAACCCAGTAGGAGACTTGAAGC
original cDNA sequence snippet CTTCATGGTTCTGCAAGACATCCCAGTAGGAGACTTGAAGC
altered cDNA sequence snippet CTTCATGGTTCTGCAAGACAACCCAGTAGGAGACTTGAAGC
wildtype AA sequence MRKDRLLHLC LVLLLILLSA SDSNSTEPQY MVLVPSLLHT EAPKKGCVLL SHLNETVTVS
ASLESGRENR SLFTDLVAEK DLFHCVSFTL PRISASSEVA FLSIQIKGPT QDFRKRNTVL
VLNTQSLVFV QTDKPMYKPG QTVRFRVVSV DENFRPRNEL IPLIYLENPR RNRIAQWQSL
KLEAGINQLS FPLSSEPIQG SYRVVVQTES GGRIQHPFTV EEFVLPKFEV KVQVPKIISI
MDEKVNITVC GEYTYGKPVP GLATVSLCRK LSRVLNCDKQ EVCEEFSQQL NSNGCITQQV
HTKMLQITNT GFEMKLRVEA RIREEGTDLE VTANRISEIT NIVSKLKFVK VDSHFRQGIP
FFAQVLLVDG KGVPIPNKLF FISVNDANYY SNATTNEQGL AQFSINTTSI SVNKLFVRVF
TVHPNLCFHY SWVAEDHQGA QHTANRVFSL SGSYIHLEPV AGTLPCGHTE TITAHYTLNR
QAMGELSELS FHYLIMAKGV IVRSGTHTLP VESGDMKGSF ALSFPVESDV APIARMFIFA
ILPDGEVVGD SEKFEIENCL ANKVDLSFSP AQSPPASHAH LQVAAAPQSL CALRAVDQSV
LLMKPEAELS VSSVYNLLTV KDLTNFPDNV DQQEEEQGHC PRPFFIHNGA IYVPLSSNEA
DIYSFLKGMG LKVFTNSKIR KPKSCSVIPS VSAGAVGQGY YGAGLGVVER PYVPQLGTYN
VIPLNNEQSS GPVPETVRSY FPETWIWELV AVNSSGVAEV GVTVPDTITE WKAGAFCLSE
DAGLGISSTA SLRAFQPFFV ELTMPYSVIR GEVFTLKATV LNYLPKCIRV SVQLKASPAF
LASQNTKGEE SYCICGNERQ TLSWTVTPKT LGNVNFSVSA EAMQSLELCG NEVVEVPEIK
RKDTVIKTLL VEAEGIEQEK TFSSMTCASG ANVSEQLSLK LPSNVVKESA RASFSVLGDI
LGSAMQNIQN LLQMPYGCGE QNMVLFAPNI YVLNYLNETQ QLTQEIKAKA VGYLITGYQR
QLNYKHQDGS YSTFGERYGR NQGNTWLTAF VLKTFAQARS YIFIDEAHIT QSLTWLSQMQ
KDNGCFRSSG SLLNNAIKGG VEDEATLSAY VTIALLEIPL PVTNPIVRNA LFCLESAWNV
AKEGTHGSHV YTKALLAYAF SLLGKQNQNR EILNSLDKEA VKEDNLVHWE RPQRPKAPVG
HLYQTQAPSA EVEMTSYVLL AYLTAQPAPT SGDLTSATNI VKWIMKQQNA QGGFSSTQDT
VVALHALSRY GAATFTRTEK TAQVTVQDSQ TFSTNFQVDN NNLLLLQQIS LPELPGEYVI
TVTGERCVYL QTSMKYNILP EKEDSPFALK VQTVPQTCDG HKAHTSFQIS LTISYTGNRP
ASNMVIVDVK MVSGFIPLKP TVKMLERSSS VSRTEVSNNH VLIYVEQVTN QTLSFSFMVL
QDIPVGDLKP AIVKVYDYYE TDESVVAEYI APCSTDTEHG NV*
mutated AA sequence MRKDRLLHLC LVLLLILLSA SDSNSTEPQY MVLVPSLLHT EAPKKGCVLL SHLNETVTVS
ASLESGRENR SLFTDLVAEK DLFHCVSFTL PRISASSEVA FLSIQIKGPT QDFRKRNTVL
VLNTQSLVFV QTDKPMYKPG QTVRFRVVSV DENFRPRNEL IPLIYLENPR RNRIAQWQSL
KLEAGINQLS FPLSSEPIQG SYRVVVQTES GGRIQHPFTV EEFVLPKFEV KVQVPKIISI
MDEKVNITVC GEYTYGKPVP GLATVSLCRK LSRVLNCDKQ EVCEEFSQQL NSNGCITQQV
HTKMLQITNT GFEMKLRVEA RIREEGTDLE VTANRISEIT NIVSKLKFVK VDSHFRQGIP
FFAQVLLVDG KGVPIPNKLF FISVNDANYY SNATTNEQGL AQFSINTTSI SVNKLFVRVF
TVHPNLCFHY SWVAEDHQGA QHTANRVFSL SGSYIHLEPV AGTLPCGHTE TITAHYTLNR
QAMGELSELS FHYLIMAKGV IVRSGTHTLP VESGDMKGSF ALSFPVESDV APIARMFIFA
ILPDGEVVGD SEKFEIENCL ANKVDLSFSP AQSPPASHAH LQVAAAPQSL CALRAVDQSV
LLMKPEAELS VSSVYNLLTV KDLTNFPDNV DQQEEEQGHC PRPFFIHNGA IYVPLSSNEA
DIYSFLKGMG LKVFTNSKIR KPKSCSVIPS VSAGAVGQGY YGAGLGVVER PYVPQLGTYN
VIPLNNEQSS GPVPETVRSY FPETWIWELV AVNSSGVAEV GVTVPDTITE WKAGAFCLSE
DAGLGISSTA SLRAFQPFFV ELTMPYSVIR GEVFTLKATV LNYLPKCIRV SVQLKASPAF
LASQNTKGEE SYCICGNERQ TLSWTVTPKT LGNVNFSVSA EAMQSLELCG NEVVEVPEIK
RKDTVIKTLL VEAEGIEQEK TFSSMTCASG ANVSEQLSLK LPSNVVKESA RASFSVLGDI
LGSAMQNIQN LLQMPYGCGE QNMVLFAPNI YVLNYLNETQ QLTQEIKAKA VGYLITGYQR
QLNYKHQDGS YSTFGERYGR NQGNTWLTAF VLKTFAQARS YIFIDEAHIT QSLTWLSQMQ
KDNGCFRSSG SLLNNAIKGG VEDEATLSAY VTIALLEIPL PVTNPIVRNA LFCLESAWNV
AKEGTHGSHV YTKALLAYAF SLLGKQNQNR EILNSLDKEA VKEDNLVHWE RPQRPKAPVG
HLYQTQAPSA EVEMTSYVLL AYLTAQPAPT SGDLTSATNI VKWIMKQQNA QGGFSSTQDT
VVALHALSRY GAATFTRTEK TAQVTVQDSQ TFSTNFQVDN NNLLLLQQIS LPELPGEYVI
TVTGERCVYL QTSMKYNILP EKEDSPFALK VQTVPQTCDG HKAHTSFQIS LTISYTGNRP
ASNMVIVDVK MVSGFIPLKP TVKMLERSSS VSRTEVSNNH VLIYVEQVTN QTLSFSFMVL
QDNPVGDLKP AIVKVYDYYE TDESVVAEYI APCSTDTEHG NV*
speed 0.50 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