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
  • protein features (might be) affected
  • 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 ENST00000381997
Genbank transcript ID N/A
UniProt peptide P20742
alteration type single base exchange
alteration region CDS
DNA changes c.3686T>A
cDNA.3686T>A
g.57671T>A
AA changes I1229N Score: 194 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1229
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      1229TLSFSFMVLQDIPVGDLKPAIVKV
mutated  not conserved    1229TLSFSFMVLQDNPVGDLKPAIVK
Ptroglodytes  all identical  ENSPTRG00000004652  1443LQDIPVGDLKPAIVK
Mmulatta  no homologue    
Fcatus  all identical  ENSFCAG00000005067  1187LQDIPVRDLKPAIVK
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
start (aa)end (aa)featuredetails 
14301430CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3807 / 3807
position (AA) of stopcodon in wt / mu AA sequence 1269 / 1269
position of stopcodon in wt / mu cDNA 3807 / 3807
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 1 / 1
chromosome 12
strand -1
last intron/exon boundary 3785
theoretical NMD boundary in CDS 3734
length of CDS 3807
coding sequence (CDS) position 3686
cDNA position
(for ins/del: last normal base / first normal base)		 3686
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 MSESYRRTTF PVRFRVVSVD ENFRPRNELI PLIYLENPRR NRIAQWQSLK LEAGINQLSF
PLSSEPIQGS YRVVVQTESG GRIQHPFTVE EFVLPKFEVK VQVPKIISIM DEKVNITVCG
EYTYGKPVPG LATVSLCRKL SRVLNCDKQE VCEEFSQQLN SNGCITQQVH TKMLQITNTG
FEMKLRVEAR IREEGTDLEV TANRISEITN IVSKLKFVKV DSHFRQGIPF FAQVLLVDGK
GVPIPNKLFF ISVNDANYYS NATTNEQGLA QFSINTTSIS VNKLFVRVFT VHPNLCFHYS
WVAEDHQGAQ HTANRVFSLS GSYIHLEPVA GTLPCGHTET ITAHYTLNRQ AMGELSELSF
HYLIMAKGVI VRSGTHTLPV ESGDMKGSFA LSFPVESDVA PIARMFIFAI LPDGEVVGDS
EKFEIENCLA NKVDLSFSPA QSPPASHAHL QVAAAPQSLC ALRAVDQSVL LMKPEAELSV
SSVYNLLTVK DLTNFPDNVD QQEEEQGHCP RPFFIHNGAI YVPLSSNEAD IYSFLKGMGL
KVFTNSKIRK PKSCSVIPSV SAGAVGQGYY GAGLGVVERP YVPQLGTYNV IPLNNEQSSG
PVPETVRSYF PETWIWELVA VNSSGVAEVG VTVPDTITEW KAGAFCLSED AGLGISSTAS
LRAFQPFFVE LTMPYSVIRG EVFTLKATVL NYLPKCIRAE GIEQEKTFSS MTCASGANVS
EQLSLKLPSN VVKESARASF SVLGDILGSA MQNIQNLLQM PYGCGEQNMV LFAPNIYVLN
YLNETQQLTQ EIKAKAVGYL ITGYQRQLNY KHQDGSYSTF GERYGRNQGN TWLTAFVLKT
FAQARSYIFI DEAHITQSLT WLSQMQKDNG CFRSSGSLLN NAIKGGVEDE ATLSAYVTIA
LLEIPLPVTN PIVRNALFCL ESAWNVAKEG THGSHVYTKA LLAYAFSLLG KQNQNREILN
SLDKEAVKED NLVHWERPQR PKAPVGHLYQ TQAPSAEVEM TSYVLLAYLT AQPAPTSGDL
TSATNIVKWI MKQQNAQGGF SSTQDTVVAL HALSRYGAAT FTRTEKTAQV TVQDSQTFST
NFQVDNNNLL LLQQISLPEL PGEYVITVTG ERCVYLQTSM KYNILPEKED SPFALKVQTV
PQTCDGHKAH TSFQISLTIS YTGNRPASNM VIVDVKMVSG FIPLKPTVKM LERSSSVSRT
EVSNNHVLIY VEQVTNQTLS FSFMVLQDIP VGDLKPAIVK VYDYYETDES VVAEYIAPCS
TDTEHGNV*
mutated AA sequence MSESYRRTTF PVRFRVVSVD ENFRPRNELI PLIYLENPRR NRIAQWQSLK LEAGINQLSF
PLSSEPIQGS YRVVVQTESG GRIQHPFTVE EFVLPKFEVK VQVPKIISIM DEKVNITVCG
EYTYGKPVPG LATVSLCRKL SRVLNCDKQE VCEEFSQQLN SNGCITQQVH TKMLQITNTG
FEMKLRVEAR IREEGTDLEV TANRISEITN IVSKLKFVKV DSHFRQGIPF FAQVLLVDGK
GVPIPNKLFF ISVNDANYYS NATTNEQGLA QFSINTTSIS VNKLFVRVFT VHPNLCFHYS
WVAEDHQGAQ HTANRVFSLS GSYIHLEPVA GTLPCGHTET ITAHYTLNRQ AMGELSELSF
HYLIMAKGVI VRSGTHTLPV ESGDMKGSFA LSFPVESDVA PIARMFIFAI LPDGEVVGDS
EKFEIENCLA NKVDLSFSPA QSPPASHAHL QVAAAPQSLC ALRAVDQSVL LMKPEAELSV
SSVYNLLTVK DLTNFPDNVD QQEEEQGHCP RPFFIHNGAI YVPLSSNEAD IYSFLKGMGL
KVFTNSKIRK PKSCSVIPSV SAGAVGQGYY GAGLGVVERP YVPQLGTYNV IPLNNEQSSG
PVPETVRSYF PETWIWELVA VNSSGVAEVG VTVPDTITEW KAGAFCLSED AGLGISSTAS
LRAFQPFFVE LTMPYSVIRG EVFTLKATVL NYLPKCIRAE GIEQEKTFSS MTCASGANVS
EQLSLKLPSN VVKESARASF SVLGDILGSA MQNIQNLLQM PYGCGEQNMV LFAPNIYVLN
YLNETQQLTQ EIKAKAVGYL ITGYQRQLNY KHQDGSYSTF GERYGRNQGN TWLTAFVLKT
FAQARSYIFI DEAHITQSLT WLSQMQKDNG CFRSSGSLLN NAIKGGVEDE ATLSAYVTIA
LLEIPLPVTN PIVRNALFCL ESAWNVAKEG THGSHVYTKA LLAYAFSLLG KQNQNREILN
SLDKEAVKED NLVHWERPQR PKAPVGHLYQ TQAPSAEVEM TSYVLLAYLT AQPAPTSGDL
TSATNIVKWI MKQQNAQGGF SSTQDTVVAL HALSRYGAAT FTRTEKTAQV TVQDSQTFST
NFQVDNNNLL LLQQISLPEL PGEYVITVTG ERCVYLQTSM KYNILPEKED SPFALKVQTV
PQTCDGHKAH TSFQISLTIS YTGNRPASNM VIVDVKMVSG FIPLKPTVKM LERSSSVSRT
EVSNNHVLIY VEQVTNQTLS FSFMVLQDNP VGDLKPAIVK VYDYYETDES VVAEYIAPCS
TDTEHGNV*
speed 0.48 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