Yum, tasty mutations...

MutationTaster - study a chromosomal position

 MTQE documentation
NEVER press reload or F5 - unless you want to start from the very beginning.
input seems to be ok - now mapping the variant to the different transcripts...
found 4 transcript(s)...
Querying Taster for transcript #1: ENST00000325083
Querying Taster for transcript #2: ENST00000518537
Querying Taster for transcript #3: ENST00000519253
Querying Taster for transcript #4: ENST00000524226
MT speed 0 s - this script 4.577936 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
PCM1polymorphism_automatic9.83077152016953e-07simple_aaeaffectedN159Ssingle base exchangers412750show file
PCM1polymorphism_automatic9.83077152016953e-07simple_aaeaffectedN159Ssingle base exchangers412750show file
PCM1polymorphism_automatic9.83077152016953e-07simple_aaeaffectedN159Ssingle base exchangers412750show file
PCM1polymorphism_automatic9.83077152016953e-07simple_aaeaffectedN159Ssingle base exchangers412750show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999016922848 (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) chr8:17796382A>GN/A show variant in all transcripts   IGV
HGNC symbol PCM1
Ensembl transcript ID ENST00000518537
Genbank transcript ID N/A
UniProt peptide Q15154
alteration type single base exchange
alteration region CDS
DNA changes c.476A>G
cDNA.756A>G
g.16034A>G
AA changes N159S Score: 46 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 159
frameshift no
known variant Reference ID: rs412750
databasehomozygous (G/G)heterozygousallele carriers
1000G12399802219
ExAC---
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.6490.726
2.3020.919
(flanking)0.0450.919
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained160280.73mu: TGCATCTACAAGCCC CATC|taca
distance from splice site 134
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      159INTNKSKDASTNPPNRETIGSAQC
mutated  all conserved    159INTNKSKDASTSPPNRETIGSAQ
Ptroglodytes  all conserved  ENSPTRG00000020026  159INTNKSKDASTSPPNRETIGSAQ
Mmulatta  all conserved  ENSMMUG00000015487  159INTNKSKDASTSPPNRETIGSAQ
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000031592  159INTNKSKDATASLPKREMTTSAQ
Ggallus  not conserved  ENSGALG00000013602  159INTNKSKDPVSGSQKKESGEPLQ
Trubripes  all conserved  ENSTRUG00000015999  160VNTNKSRDLLGPSSSAPATPAISQEM
Drerio  not conserved  ENSDARG00000062198  161LNTNKSKEPTASTSSTPGGKEHKKQSP
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all conserved  ENSXETG00000012460  157LNTNKEK-SSKSPPKRESSTISS
protein features
start (aa)end (aa)featuredetails 
159159MOD_RESPhosphoserine.lost
218301COILEDPotential.might get lost (downstream of altered splice site)
294294CONFLICTR -> RG (in Ref. 1; AAA60120).might get lost (downstream of altered splice site)
311312CONFLICTEQ -> DE (in Ref. 1; AAA60120).might get lost (downstream of altered splice site)
356356MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
372372MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
399399MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
400424COILEDPotential.might get lost (downstream of altered splice site)
405405CONFLICTE -> K (in Ref. 3; AAH27477).might get lost (downstream of altered splice site)
408408CONFLICTQ -> K (in Ref. 3; AAH27477/AAH65022).might get lost (downstream of altered splice site)
431431MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
447448CONFLICTSV -> CL (in Ref. 1; AAA60120).might get lost (downstream of altered splice site)
487543COILEDPotential.might get lost (downstream of altered splice site)
651682COILEDPotential.might get lost (downstream of altered splice site)
726769COILEDPotential.might get lost (downstream of altered splice site)
760760CONFLICTQ -> H (in Ref. 1; AAA60120).might get lost (downstream of altered splice site)
824858COILEDPotential.might get lost (downstream of altered splice site)
861861MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
866866MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
869869MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
872872MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
877877MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
946946CONFLICTG -> R (in Ref. 1; AAA60120).might get lost (downstream of altered splice site)
952952CONFLICTR -> T (in Ref. 1; AAA60120).might get lost (downstream of altered splice site)
960960MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
991991MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
10041004CONFLICTMissing (in Ref. 1; AAA60120).might get lost (downstream of altered splice site)
10631089COILEDPotential.might get lost (downstream of altered splice site)
10861086CONFLICTQ -> R (in Ref. 1; AAA60120).might get lost (downstream of altered splice site)
11681168CONFLICTQ -> R (in Ref. 1; AAA60120).might get lost (downstream of altered splice site)
11691169CONFLICTN -> I (in Ref. 1; AAA60120).might get lost (downstream of altered splice site)
11701170CONFLICTS -> L (in Ref. 1; AAA60120).might get lost (downstream of altered splice site)
11851185MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
11871187MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
11881188MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12311231MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12571257MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12601260MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12621262MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12791799REGIONInteraction with HAP1.might get lost (downstream of altered splice site)
12901290MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
13141315SITEBreakpoint for translocation to form PCM1-JAK2 fusion protein.might get lost (downstream of altered splice site)
13421342CONFLICTV -> L (in Ref. 1; AAA60120).might get lost (downstream of altered splice site)
13691370SITEBreakpoint for translocation to form PCM1-JAK2 fusion protein.might get lost (downstream of altered splice site)
13731373MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
13821382CONFLICTR -> Q (in Ref. 1; AAA60120).might get lost (downstream of altered splice site)
14351435MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
14371437MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
14701471SITEBreakpoint for translocation to form PCM1-JAK2 fusion protein.might get lost (downstream of altered splice site)
15151539COILEDPotential.might get lost (downstream of altered splice site)
15321532CONFLICTT -> A (in Ref. 4; BAC03656).might get lost (downstream of altered splice site)
16091610SITEBreakpoint for translocation to form PCM1-RET fusion protein.might get lost (downstream of altered splice site)
16561656MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
16971697MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
17301730MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
17651765MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
17681768MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
17761776MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
18491849CONFLICTS -> G (in Ref. 4; BAC03656).might get lost (downstream of altered splice site)
18531864CONFLICTPLEREATSKNDQ -> HWNEKPLVKMTK (in Ref. 1; AAA60120).might get lost (downstream of altered splice site)
18721872CONFLICTC -> S (in Ref. 1; AAA60120).might get lost (downstream of altered splice site)
19132024REGIONInteraction with BBS4.might get lost (downstream of altered splice site)
19471948SITEBreakpoint for translocation to form PCM1-JAK2 fusion protein.might get lost (downstream of altered splice site)
19771977MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
19881988CONFLICTE -> V (in Ref. 4; BAC03656).might get lost (downstream of altered splice site)
19981998CONFLICTI -> M (in Ref. 1; AAA60120).might get lost (downstream of altered splice site)
20232023MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1593 / 1593
position (AA) of stopcodon in wt / mu AA sequence 531 / 531
position of stopcodon in wt / mu cDNA 1873 / 1873
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 281 / 281
chromosome 8
strand 1
last intron/exon boundary 1686
theoretical NMD boundary in CDS 1355
length of CDS 1593
coding sequence (CDS) position 476
cDNA position
(for ins/del: last normal base / first normal base)		 756
gDNA position
(for ins/del: last normal base / first normal base)		 16034
chromosomal position
(for ins/del: last normal base / first normal base)		 17796382
original gDNA sequence snippet GAGCAAAGATGCATCTACAAACCCCCCAAACAGAGAAACGA
altered gDNA sequence snippet GAGCAAAGATGCATCTACAAGCCCCCCAAACAGAGAAACGA
original cDNA sequence snippet GAGCAAAGATGCATCTACAAACCCCCCAAACAGAGAAACGA
altered cDNA sequence snippet GAGCAAAGATGCATCTACAAGCCCCCCAAACAGAGAAACGA
wildtype AA sequence MATGGGPFED GMNDQDLPNW SNENVDDRLN NMDWGAQQKK ANRSSEKNKK KFGVESDKRV
TNDISPESSP GVGRRRTKTP HTFPHSRYMS QMSVPEQAEL EKLKQRINFS DLDQRSIGSD
SQGRATAANN KRQLSENRKP FNFLPMQINT NKSKDASTNP PNRETIGSAQ CKELFASALS
NDLLQNCQVS EEDGRGEPAM ESSQIVSRLV QIRDYITKAS SMREDLVEKN ERSANVERLT
HLIDHLKEQE KSYMKFLKKI LARENEEEDV RTIDSAVGSG SVAESTSLNI DVQSEASDTT
ARDPQQEPME EIENLKKQHD LLKRMLQQQE QLRALQGRQA ALLALQHKAE QAIAVMDDSV
VAETAGSLSG VSITSELNEE LNDLIQRFHN QLRDSQPPAV PDNRRQAESL SLTREVSQSR
KPSASERLPD EKVELFSKMR VLQEKKQKMD KLLGELHTLR DQHLNNSSSS PQRSVDQRST
SAPSASVGLA PVVNGESNSL TSSVPYPTAS LVSQNESENE GHLNPSEKLQ *
mutated AA sequence MATGGGPFED GMNDQDLPNW SNENVDDRLN NMDWGAQQKK ANRSSEKNKK KFGVESDKRV
TNDISPESSP GVGRRRTKTP HTFPHSRYMS QMSVPEQAEL EKLKQRINFS DLDQRSIGSD
SQGRATAANN KRQLSENRKP FNFLPMQINT NKSKDASTSP PNRETIGSAQ CKELFASALS
NDLLQNCQVS EEDGRGEPAM ESSQIVSRLV QIRDYITKAS SMREDLVEKN ERSANVERLT
HLIDHLKEQE KSYMKFLKKI LARENEEEDV RTIDSAVGSG SVAESTSLNI DVQSEASDTT
ARDPQQEPME EIENLKKQHD LLKRMLQQQE QLRALQGRQA ALLALQHKAE QAIAVMDDSV
VAETAGSLSG VSITSELNEE LNDLIQRFHN QLRDSQPPAV PDNRRQAESL SLTREVSQSR
KPSASERLPD EKVELFSKMR VLQEKKQKMD KLLGELHTLR DQHLNNSSSS PQRSVDQRST
SAPSASVGLA PVVNGESNSL TSSVPYPTAS LVSQNESENE GHLNPSEKLQ *
speed 0.71 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
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999016922848 (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) chr8:17796382A>GN/A show variant in all transcripts   IGV
HGNC symbol PCM1
Ensembl transcript ID ENST00000325083
Genbank transcript ID NM_006197
UniProt peptide Q15154
alteration type single base exchange
alteration region CDS
DNA changes c.476A>G
cDNA.915A>G
g.16034A>G
AA changes N159S Score: 46 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 159
frameshift no
known variant Reference ID: rs412750
databasehomozygous (G/G)heterozygousallele carriers
1000G12399802219
ExAC---
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.6490.726
2.3020.919
(flanking)0.0450.919
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained160280.73mu: TGCATCTACAAGCCC CATC|taca
distance from splice site 134
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      159INTNKSKDASTNPPNRETIGSAQC
mutated  all conserved    159INTNKSKDASTSPPNRETIGSAQ
Ptroglodytes  all conserved  ENSPTRG00000020026  159INTNKSKDASTSPPNRETIGSAQ
Mmulatta  all conserved  ENSMMUG00000015487  159INTNKSKDASTSPPNRETIGSAQ
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000031592  159INTNKSKDATASLPKREMTTSAQ
Ggallus  not conserved  ENSGALG00000013602  159INTNKSKDPVSGSQKKESGEPLQ
Trubripes  all conserved  ENSTRUG00000015999  160VNTNKSRDLLGPSSSAPATPAISQEM
Drerio  not conserved  ENSDARG00000062198  161LNTNKSKEPTASTSSTPGGKEHKKQSP
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all conserved  ENSXETG00000012460  157LNTNKEK-SSKSPPKRESSTISS
protein features
start (aa)end (aa)featuredetails 
159159MOD_RESPhosphoserine.lost
218301COILEDPotential.might get lost (downstream of altered splice site)
294294CONFLICTR -> RG (in Ref. 1; AAA60120).might get lost (downstream of altered splice site)
311312CONFLICTEQ -> DE (in Ref. 1; AAA60120).might get lost (downstream of altered splice site)
356356MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
372372MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
399399MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
400424COILEDPotential.might get lost (downstream of altered splice site)
405405CONFLICTE -> K (in Ref. 3; AAH27477).might get lost (downstream of altered splice site)
408408CONFLICTQ -> K (in Ref. 3; AAH27477/AAH65022).might get lost (downstream of altered splice site)
431431MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
447448CONFLICTSV -> CL (in Ref. 1; AAA60120).might get lost (downstream of altered splice site)
487543COILEDPotential.might get lost (downstream of altered splice site)
651682COILEDPotential.might get lost (downstream of altered splice site)
726769COILEDPotential.might get lost (downstream of altered splice site)
760760CONFLICTQ -> H (in Ref. 1; AAA60120).might get lost (downstream of altered splice site)
824858COILEDPotential.might get lost (downstream of altered splice site)
861861MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
866866MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
869869MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
872872MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
877877MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
946946CONFLICTG -> R (in Ref. 1; AAA60120).might get lost (downstream of altered splice site)
952952CONFLICTR -> T (in Ref. 1; AAA60120).might get lost (downstream of altered splice site)
960960MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
991991MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
10041004CONFLICTMissing (in Ref. 1; AAA60120).might get lost (downstream of altered splice site)
10631089COILEDPotential.might get lost (downstream of altered splice site)
10861086CONFLICTQ -> R (in Ref. 1; AAA60120).might get lost (downstream of altered splice site)
11681168CONFLICTQ -> R (in Ref. 1; AAA60120).might get lost (downstream of altered splice site)
11691169CONFLICTN -> I (in Ref. 1; AAA60120).might get lost (downstream of altered splice site)
11701170CONFLICTS -> L (in Ref. 1; AAA60120).might get lost (downstream of altered splice site)
11851185MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
11871187MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
11881188MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12311231MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12571257MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12601260MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12621262MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12791799REGIONInteraction with HAP1.might get lost (downstream of altered splice site)
12901290MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
13141315SITEBreakpoint for translocation to form PCM1-JAK2 fusion protein.might get lost (downstream of altered splice site)
13421342CONFLICTV -> L (in Ref. 1; AAA60120).might get lost (downstream of altered splice site)
13691370SITEBreakpoint for translocation to form PCM1-JAK2 fusion protein.might get lost (downstream of altered splice site)
13731373MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
13821382CONFLICTR -> Q (in Ref. 1; AAA60120).might get lost (downstream of altered splice site)
14351435MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
14371437MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
14701471SITEBreakpoint for translocation to form PCM1-JAK2 fusion protein.might get lost (downstream of altered splice site)
15151539COILEDPotential.might get lost (downstream of altered splice site)
15321532CONFLICTT -> A (in Ref. 4; BAC03656).might get lost (downstream of altered splice site)
16091610SITEBreakpoint for translocation to form PCM1-RET fusion protein.might get lost (downstream of altered splice site)
16561656MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
16971697MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
17301730MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
17651765MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
17681768MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
17761776MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
18491849CONFLICTS -> G (in Ref. 4; BAC03656).might get lost (downstream of altered splice site)
18531864CONFLICTPLEREATSKNDQ -> HWNEKPLVKMTK (in Ref. 1; AAA60120).might get lost (downstream of altered splice site)
18721872CONFLICTC -> S (in Ref. 1; AAA60120).might get lost (downstream of altered splice site)
19132024REGIONInteraction with BBS4.might get lost (downstream of altered splice site)
19471948SITEBreakpoint for translocation to form PCM1-JAK2 fusion protein.might get lost (downstream of altered splice site)
19771977MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
19881988CONFLICTE -> V (in Ref. 4; BAC03656).might get lost (downstream of altered splice site)
19981998CONFLICTI -> M (in Ref. 1; AAA60120).might get lost (downstream of altered splice site)
20232023MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 6075 / 6075
position (AA) of stopcodon in wt / mu AA sequence 2025 / 2025
position of stopcodon in wt / mu cDNA 6514 / 6514
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 440 / 440
chromosome 8
strand 1
last intron/exon boundary 6489
theoretical NMD boundary in CDS 5999
length of CDS 6075
coding sequence (CDS) position 476
cDNA position
(for ins/del: last normal base / first normal base)		 915
gDNA position
(for ins/del: last normal base / first normal base)		 16034
chromosomal position
(for ins/del: last normal base / first normal base)		 17796382
original gDNA sequence snippet GAGCAAAGATGCATCTACAAACCCCCCAAACAGAGAAACGA
altered gDNA sequence snippet GAGCAAAGATGCATCTACAAGCCCCCCAAACAGAGAAACGA
original cDNA sequence snippet GAGCAAAGATGCATCTACAAACCCCCCAAACAGAGAAACGA
altered cDNA sequence snippet GAGCAAAGATGCATCTACAAGCCCCCCAAACAGAGAAACGA
wildtype AA sequence MATGGGPFED GMNDQDLPNW SNENVDDRLN NMDWGAQQKK ANRSSEKNKK KFGVESDKRV
TNDISPESSP GVGRRRTKTP HTFPHSRYMS QMSVPEQAEL EKLKQRINFS DLDQRSIGSD
SQGRATAANN KRQLSENRKP FNFLPMQINT NKSKDASTNP PNRETIGSAQ CKELFASALS
NDLLQNCQVS EEDGRGEPAM ESSQIVSRLV QIRDYITKAS SMREDLVEKN ERSANVERLT
HLIDHLKEQE KSYMKFLKKI LARDPQQEPM EEIENLKKQH DLLKRMLQQQ EQLRALQGRQ
AALLALQHKA EQAIAVMDDS VVAETAGSLS GVSITSELNE ELNDLIQRFH NQLRDSQPPA
VPDNRRQAES LSLTREVSQS RKPSASERLP DEKVELFSKM RVLQEKKQKM DKLLGELHTL
RDQHLNNSSS SPQRSVDQRS TSAPSASVGL APVVNGESNS LTSSVPYPTA SLVSQNESEN
EGHLNPSEKL QKLNEVRKRL NELRELVHYY EQTSDMMTDA VNENRKDEET EESEYDSEHE
NSEPVTNIRN PQVASTWNEV NSHSNAQCVS NNRDGRTVNS NCEINNRSAA NIRALNMPPS
LDCRYNREGE QEIHVAQGED DEEEEEEAEE EGVSGASLSS HRSSLVDEHP EDAEFEQKIN
RLMAAKQKLR QLQDLVAMVQ DDDAAQGVIS ASASNLDDFY PAEEDTKQNS NNTRGNANKT
QKDTGVNEKA REKFYEAKLQ QQQRELKQLQ EERKKLIDIQ EKIQALQTAC PDLQLSAASV
GNCPTKKYMP AVTSTPTVNQ HETSTSKSVF EPEDSSIVDN ELWSEMRRHE MLREELRQRR
KQLEALMAEH QRRQGLAETA SPVAVSLRSD GSENLCTPQQ SRTEKTMATW GGSTQCALDE
EGDEDGYLSE GIVRTDEEEE EEQDASSNDN FSVCPSNSVN HNSYNGKETK NRWKNNCPFS
ADENYRPLAK TRQQNISMQR QENLRWVSEL SYVEEKEQWQ EQINQLKKQL DFSVSICQTL
MQDQQTLSCL LQTLLTGPYS VMPSNVASPQ VHFIMHQLNQ CYTQLTWQQN NVQRLKQMLN
ELMRQQNQHP EKPGGKERGS SASHPPSPSL FCPFSFPTQP VNLFNIPGFT NFSSFAPGMN
FSPLFPSNFG DFSQNISTPS EQQQPLAQNS SGKTEYMAFP KPFESSSSIG AEKPRNKKLP
EEEVESSRTP WLYEQEGEVE KPFIKTGFSV SVEKSTSSNR KNQLDTNGRR RQFDEESLES
FSSMPDPVDP TTVTKTFKTR KASAQASLAS KDKTPKSKSK KRNSTQLKSR VKNIRYESAS
MSSTCEPCKS RNRHSAQTEE PVQAKVFSRK NHEQLEKIIK CNRSTEISSE TGSDFSMFEA
LRDTIYSEVA TLISQNESRP HFLIELFHEL QLLNTDYLRQ RALYALQDIV SRHISESHEK
GENVKSVNSG TWIASNSELT PSESLATTDD ETFEKNFERE THKISEQNDA DNASVLSVSS
NFEPFATDDL GNTVIHLDQA LARMREYERM KTEAESNSNM RCTCRIIEDG DGAGAGTTVN
NLEETPVIEN RSSQQPVSEV STIPCPRIDT QQLDRQIKAI MKEVIPFLKE HMDEVCSSQL
LTSVRRMVLT LTQQNDESKE FVKFFHKQLG SILQDSLAKF AGRKLKDCGE DLLVEISEVL
FNELAFFKLM QDLDNNSITV KQRCKRKIEA TGVIQSCAKE AKRILEDHGS PAGEIDDEDK
DKDETETVKQ TQTSEVYDGP KNVRSDISDQ EEDEESEGCP VSINLSKAET QALTNYGSGE
DENEDEEMEE FEEGPVDVQT SLQANTEATE ENEHDEQVLQ RDFKKTAESK NVPLEREATS
KNDQNNCPVK PCYLNILEDE QPLNSAAHKE SPPTVDSTQQ PNPLPLRLPE MEPLVPRVKE
VKSAQETPES SLAGSPDTES PVLVNDYEAE SGNISQKSDE EDFVKVEDLP LKLTIYSEAD
LRKKMVEEEQ KNHLSGEICE MQTEELAGNS ETLKEPETVG AQSI*
mutated AA sequence MATGGGPFED GMNDQDLPNW SNENVDDRLN NMDWGAQQKK ANRSSEKNKK KFGVESDKRV
TNDISPESSP GVGRRRTKTP HTFPHSRYMS QMSVPEQAEL EKLKQRINFS DLDQRSIGSD
SQGRATAANN KRQLSENRKP FNFLPMQINT NKSKDASTSP PNRETIGSAQ CKELFASALS
NDLLQNCQVS EEDGRGEPAM ESSQIVSRLV QIRDYITKAS SMREDLVEKN ERSANVERLT
HLIDHLKEQE KSYMKFLKKI LARDPQQEPM EEIENLKKQH DLLKRMLQQQ EQLRALQGRQ
AALLALQHKA EQAIAVMDDS VVAETAGSLS GVSITSELNE ELNDLIQRFH NQLRDSQPPA
VPDNRRQAES LSLTREVSQS RKPSASERLP DEKVELFSKM RVLQEKKQKM DKLLGELHTL
RDQHLNNSSS SPQRSVDQRS TSAPSASVGL APVVNGESNS LTSSVPYPTA SLVSQNESEN
EGHLNPSEKL QKLNEVRKRL NELRELVHYY EQTSDMMTDA VNENRKDEET EESEYDSEHE
NSEPVTNIRN PQVASTWNEV NSHSNAQCVS NNRDGRTVNS NCEINNRSAA NIRALNMPPS
LDCRYNREGE QEIHVAQGED DEEEEEEAEE EGVSGASLSS HRSSLVDEHP EDAEFEQKIN
RLMAAKQKLR QLQDLVAMVQ DDDAAQGVIS ASASNLDDFY PAEEDTKQNS NNTRGNANKT
QKDTGVNEKA REKFYEAKLQ QQQRELKQLQ EERKKLIDIQ EKIQALQTAC PDLQLSAASV
GNCPTKKYMP AVTSTPTVNQ HETSTSKSVF EPEDSSIVDN ELWSEMRRHE MLREELRQRR
KQLEALMAEH QRRQGLAETA SPVAVSLRSD GSENLCTPQQ SRTEKTMATW GGSTQCALDE
EGDEDGYLSE GIVRTDEEEE EEQDASSNDN FSVCPSNSVN HNSYNGKETK NRWKNNCPFS
ADENYRPLAK TRQQNISMQR QENLRWVSEL SYVEEKEQWQ EQINQLKKQL DFSVSICQTL
MQDQQTLSCL LQTLLTGPYS VMPSNVASPQ VHFIMHQLNQ CYTQLTWQQN NVQRLKQMLN
ELMRQQNQHP EKPGGKERGS SASHPPSPSL FCPFSFPTQP VNLFNIPGFT NFSSFAPGMN
FSPLFPSNFG DFSQNISTPS EQQQPLAQNS SGKTEYMAFP KPFESSSSIG AEKPRNKKLP
EEEVESSRTP WLYEQEGEVE KPFIKTGFSV SVEKSTSSNR KNQLDTNGRR RQFDEESLES
FSSMPDPVDP TTVTKTFKTR KASAQASLAS KDKTPKSKSK KRNSTQLKSR VKNIRYESAS
MSSTCEPCKS RNRHSAQTEE PVQAKVFSRK NHEQLEKIIK CNRSTEISSE TGSDFSMFEA
LRDTIYSEVA TLISQNESRP HFLIELFHEL QLLNTDYLRQ RALYALQDIV SRHISESHEK
GENVKSVNSG TWIASNSELT PSESLATTDD ETFEKNFERE THKISEQNDA DNASVLSVSS
NFEPFATDDL GNTVIHLDQA LARMREYERM KTEAESNSNM RCTCRIIEDG DGAGAGTTVN
NLEETPVIEN RSSQQPVSEV STIPCPRIDT QQLDRQIKAI MKEVIPFLKE HMDEVCSSQL
LTSVRRMVLT LTQQNDESKE FVKFFHKQLG SILQDSLAKF AGRKLKDCGE DLLVEISEVL
FNELAFFKLM QDLDNNSITV KQRCKRKIEA TGVIQSCAKE AKRILEDHGS PAGEIDDEDK
DKDETETVKQ TQTSEVYDGP KNVRSDISDQ EEDEESEGCP VSINLSKAET QALTNYGSGE
DENEDEEMEE FEEGPVDVQT SLQANTEATE ENEHDEQVLQ RDFKKTAESK NVPLEREATS
KNDQNNCPVK PCYLNILEDE QPLNSAAHKE SPPTVDSTQQ PNPLPLRLPE MEPLVPRVKE
VKSAQETPES SLAGSPDTES PVLVNDYEAE SGNISQKSDE EDFVKVEDLP LKLTIYSEAD
LRKKMVEEEQ KNHLSGEICE MQTEELAGNS ETLKEPETVG AQSI*
speed 0.70 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
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999016922848 (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) chr8:17796382A>GN/A show variant in all transcripts   IGV
HGNC symbol PCM1
Ensembl transcript ID ENST00000519253
Genbank transcript ID N/A
UniProt peptide Q15154
alteration type single base exchange
alteration region CDS
DNA changes c.476A>G
cDNA.727A>G
g.16034A>G
AA changes N159S Score: 46 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 159
frameshift no
known variant Reference ID: rs412750
databasehomozygous (G/G)heterozygousallele carriers
1000G12399802219
ExAC---
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.6490.726
2.3020.919
(flanking)0.0450.919
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained160280.73mu: TGCATCTACAAGCCC CATC|taca
distance from splice site 134
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      159INTNKSKDASTNPPNRETIGSAQC
mutated  all conserved    159INTNKSKDASTSPPNRETIGSAQ
Ptroglodytes  all conserved  ENSPTRG00000020026  159INTNKSKDASTSPPNRETIGSAQ
Mmulatta  all conserved  ENSMMUG00000015487  159INTNKSKDASTSPPNRETIGSAQ
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000031592  159INTNKSKDATASLPKREMTTSAQ
Ggallus  not conserved  ENSGALG00000013602  159INTNKSKDPVSGSQKKESGEPLQ
Trubripes  all conserved  ENSTRUG00000015999  160VNTNKSRDLLGPSSSAPATPAISQEM
Drerio  not conserved  ENSDARG00000062198  161LNTNKSKEPTASTSSTPGGKEHKKQSP
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all conserved  ENSXETG00000012460  157LNTNKEK-SSKSPPKRESSTISS
protein features
start (aa)end (aa)featuredetails 
159159MOD_RESPhosphoserine.lost
218301COILEDPotential.might get lost (downstream of altered splice site)
294294CONFLICTR -> RG (in Ref. 1; AAA60120).might get lost (downstream of altered splice site)
311312CONFLICTEQ -> DE (in Ref. 1; AAA60120).might get lost (downstream of altered splice site)
356356MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
372372MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
399399MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
400424COILEDPotential.might get lost (downstream of altered splice site)
405405CONFLICTE -> K (in Ref. 3; AAH27477).might get lost (downstream of altered splice site)
408408CONFLICTQ -> K (in Ref. 3; AAH27477/AAH65022).might get lost (downstream of altered splice site)
431431MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
447448CONFLICTSV -> CL (in Ref. 1; AAA60120).might get lost (downstream of altered splice site)
487543COILEDPotential.might get lost (downstream of altered splice site)
651682COILEDPotential.might get lost (downstream of altered splice site)
726769COILEDPotential.might get lost (downstream of altered splice site)
760760CONFLICTQ -> H (in Ref. 1; AAA60120).might get lost (downstream of altered splice site)
824858COILEDPotential.might get lost (downstream of altered splice site)
861861MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
866866MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
869869MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
872872MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
877877MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
946946CONFLICTG -> R (in Ref. 1; AAA60120).might get lost (downstream of altered splice site)
952952CONFLICTR -> T (in Ref. 1; AAA60120).might get lost (downstream of altered splice site)
960960MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
991991MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
10041004CONFLICTMissing (in Ref. 1; AAA60120).might get lost (downstream of altered splice site)
10631089COILEDPotential.might get lost (downstream of altered splice site)
10861086CONFLICTQ -> R (in Ref. 1; AAA60120).might get lost (downstream of altered splice site)
11681168CONFLICTQ -> R (in Ref. 1; AAA60120).might get lost (downstream of altered splice site)
11691169CONFLICTN -> I (in Ref. 1; AAA60120).might get lost (downstream of altered splice site)
11701170CONFLICTS -> L (in Ref. 1; AAA60120).might get lost (downstream of altered splice site)
11851185MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
11871187MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
11881188MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12311231MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12571257MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12601260MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12621262MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12791799REGIONInteraction with HAP1.might get lost (downstream of altered splice site)
12901290MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
13141315SITEBreakpoint for translocation to form PCM1-JAK2 fusion protein.might get lost (downstream of altered splice site)
13421342CONFLICTV -> L (in Ref. 1; AAA60120).might get lost (downstream of altered splice site)
13691370SITEBreakpoint for translocation to form PCM1-JAK2 fusion protein.might get lost (downstream of altered splice site)
13731373MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
13821382CONFLICTR -> Q (in Ref. 1; AAA60120).might get lost (downstream of altered splice site)
14351435MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
14371437MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
14701471SITEBreakpoint for translocation to form PCM1-JAK2 fusion protein.might get lost (downstream of altered splice site)
15151539COILEDPotential.might get lost (downstream of altered splice site)
15321532CONFLICTT -> A (in Ref. 4; BAC03656).might get lost (downstream of altered splice site)
16091610SITEBreakpoint for translocation to form PCM1-RET fusion protein.might get lost (downstream of altered splice site)
16561656MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
16971697MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
17301730MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
17651765MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
17681768MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
17761776MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
18491849CONFLICTS -> G (in Ref. 4; BAC03656).might get lost (downstream of altered splice site)
18531864CONFLICTPLEREATSKNDQ -> HWNEKPLVKMTK (in Ref. 1; AAA60120).might get lost (downstream of altered splice site)
18721872CONFLICTC -> S (in Ref. 1; AAA60120).might get lost (downstream of altered splice site)
19132024REGIONInteraction with BBS4.might get lost (downstream of altered splice site)
19471948SITEBreakpoint for translocation to form PCM1-JAK2 fusion protein.might get lost (downstream of altered splice site)
19771977MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
19881988CONFLICTE -> V (in Ref. 4; BAC03656).might get lost (downstream of altered splice site)
19981998CONFLICTI -> M (in Ref. 1; AAA60120).might get lost (downstream of altered splice site)
20232023MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 6051 / 6051
position (AA) of stopcodon in wt / mu AA sequence 2017 / 2017
position of stopcodon in wt / mu cDNA 6302 / 6302
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 252 / 252
chromosome 8
strand 1
last intron/exon boundary 6277
theoretical NMD boundary in CDS 5975
length of CDS 6051
coding sequence (CDS) position 476
cDNA position
(for ins/del: last normal base / first normal base)		 727
gDNA position
(for ins/del: last normal base / first normal base)		 16034
chromosomal position
(for ins/del: last normal base / first normal base)		 17796382
original gDNA sequence snippet GAGCAAAGATGCATCTACAAACCCCCCAAACAGAGAAACGA
altered gDNA sequence snippet GAGCAAAGATGCATCTACAAGCCCCCCAAACAGAGAAACGA
original cDNA sequence snippet GAGCAAAGATGCATCTACAAACCCCCCAAACAGAGAAACGA
altered cDNA sequence snippet GAGCAAAGATGCATCTACAAGCCCCCCAAACAGAGAAACGA
wildtype AA sequence MATGGGPFED GMNDQDLPNW SNENVDDRLN NMDWGAQQKK ANRSSEKNKK KFGVESDKRV
TNDISPESSP GVGRRRTKTP HTFPHSRYMS QMSVPEQAEL EKLKQRINFS DLDQRSIGSD
SQGRATAANN KRQLSENRKP FNFLPMQINT NKSKDASTNP PNRETIGSAQ CKELFASALS
NDLLQNCQVS EEDGRGEPAM ESSQIVSRLV QIRDYITKAS SMREDLVEKN ERSANVERLT
HLIDHLKEQE KSYMKFLKKI LARDPQQEPM EEIENLKKQH DLLKRMLQQQ EQLRALQGRQ
AALLALQHKA EQAIAVMDDS VVAETAGSLS GVSITSELNE ELNDLIQRFH NQLRDSQPPA
VPDNRRQAES LSLTREVSQS RKPSASERLP DEKVELFSKM RVLQEKKQKM DKLLGELHTL
RDQHLNNSSS SPQRSVDQRS TSAPSASVGL APVVNGESNS LTSSVPYPTA SLVSQNESEN
EGHLNPSEKL QKLNEVRKRL NELRELVHYY EQTSDMMTDA VNENRKDEET EESEYDSEHE
NSEPVTNIRN PQVASTWNEV NSHSNAQCVS NNRDGRTVNS NCEINNRSAA NIRALNMPPS
LDCRYNREGE QEIHVAQGED DEEEEEEAEE EGVSGASLSS HRSSLVDEHP EDAEFEQKIN
RLMAAKQKLR QLQDLVAMVQ DDDAAQGVIS ASASNLDDFY PAEEDTKQNS NNTRGNANKT
QKDTGVNEKA REKFYEAKLQ QQQRELKQLQ EERKKLIDIQ EKIQALQTAC PDLQLSAASV
GNCPTKKYMP AVTSTPTVNQ HETSTSKSVF EPEDSSIVDN ELWSEMRRHE MLREELRQRR
KQLEALMAEH QRRQGLAETA SPVAVSLRSD GSENLCTPQQ SRTEKTMATW GGSTQCALDE
EGDEDGYLSE GIVRTDEEEE EEQDASSNDN FSVCPSNSVN HNSYNGKETK NRWKNNCPFS
ADENYRPLAK TRQQNISMQR QENLRWVSEL SYVEEKEQWQ EQINQLKKQL DFSVSICQTL
MQDQQTLSCL LQTLLTGPYS VMPSNVASPQ VHFIMHQLNQ CYTQLTWQQN NVQRLKQMLN
ELMRQQNQHP EKPGGKERGS SASHPPSPSL FCPFSFPTQP VNLFNIPGFT NFSSFAPGMN
FSPLFPSNFG DFSQNISTPS EQQQPLAQNS SGKTEYMAFP KPFESSSSIG AEKPRNKKLP
EEEVESSRTP WLYEQEGEVE KPFIKTGFSV SVEKSTSSNR KNQLDTNGRR RQFDEESLES
FSSMPDPVDP TTVTKTFKTR KASAQASLAS KDKTPKSKSK KRNSTQLKSR VKNIRYESAS
MSSTCEPCKS RNRHSAQTEE PVQAKVFSRK NHEQLEKIIK CNRSTEISSE TGSDFSMFEA
LRDTIYSEVA TLISQNESRP HFLIELFHEL QLLNTDYLRQ RALYALQDIV SRHISESHEK
GENVKSVNSG TWIASNSELT PSESLATTDD ETFEKNFERE THKISEQNDA DNASVLSVSS
NFEPFATDDL GNTVIHLDQA LARMREYERM KTEAESNSNM RCTCRIIEDG DGAGAETPVI
ENRSSQQPVS EVSTIPCPRI DTQQLDRQIK AIMKEVIPFL KEHMDEVCSS QLLTSVRRMV
LTLTQQNDES KEFVKFFHKQ LGSILQDSLA KFAGRKLKDC GEDLLVEISE VLFNELAFFK
LMQDLDNNSI TVKQRCKRKI EATGVIQSCA KEAKRILEDH GSPAGEIDDE DKDKDETETV
KQTQTSEVYD GPKNVRSDIS DQEEDEESEG CPVSINLSKA ETQALTNYGS GEDENEDEEM
EEFEEGPVDV QTSLQANTEA TEENEHDEQV LQRDFKKTAE SKNVPLEREA TSKNDQNNCP
VKPCYLNILE DEQPLNSAAH KESPPTVDST QQPNPLPLRL PEMEPLVPRV KEVKSAQETP
ESSLAGSPDT ESPVLVNDYE AESGNISQKS DEEDFVKVED LPLKLTIYSE ADLRKKMVEE
EQKNHLSGEI CEMQTEELAG NSETLKEPET VGAQSI*
mutated AA sequence MATGGGPFED GMNDQDLPNW SNENVDDRLN NMDWGAQQKK ANRSSEKNKK KFGVESDKRV
TNDISPESSP GVGRRRTKTP HTFPHSRYMS QMSVPEQAEL EKLKQRINFS DLDQRSIGSD
SQGRATAANN KRQLSENRKP FNFLPMQINT NKSKDASTSP PNRETIGSAQ CKELFASALS
NDLLQNCQVS EEDGRGEPAM ESSQIVSRLV QIRDYITKAS SMREDLVEKN ERSANVERLT
HLIDHLKEQE KSYMKFLKKI LARDPQQEPM EEIENLKKQH DLLKRMLQQQ EQLRALQGRQ
AALLALQHKA EQAIAVMDDS VVAETAGSLS GVSITSELNE ELNDLIQRFH NQLRDSQPPA
VPDNRRQAES LSLTREVSQS RKPSASERLP DEKVELFSKM RVLQEKKQKM DKLLGELHTL
RDQHLNNSSS SPQRSVDQRS TSAPSASVGL APVVNGESNS LTSSVPYPTA SLVSQNESEN
EGHLNPSEKL QKLNEVRKRL NELRELVHYY EQTSDMMTDA VNENRKDEET EESEYDSEHE
NSEPVTNIRN PQVASTWNEV NSHSNAQCVS NNRDGRTVNS NCEINNRSAA NIRALNMPPS
LDCRYNREGE QEIHVAQGED DEEEEEEAEE EGVSGASLSS HRSSLVDEHP EDAEFEQKIN
RLMAAKQKLR QLQDLVAMVQ DDDAAQGVIS ASASNLDDFY PAEEDTKQNS NNTRGNANKT
QKDTGVNEKA REKFYEAKLQ QQQRELKQLQ EERKKLIDIQ EKIQALQTAC PDLQLSAASV
GNCPTKKYMP AVTSTPTVNQ HETSTSKSVF EPEDSSIVDN ELWSEMRRHE MLREELRQRR
KQLEALMAEH QRRQGLAETA SPVAVSLRSD GSENLCTPQQ SRTEKTMATW GGSTQCALDE
EGDEDGYLSE GIVRTDEEEE EEQDASSNDN FSVCPSNSVN HNSYNGKETK NRWKNNCPFS
ADENYRPLAK TRQQNISMQR QENLRWVSEL SYVEEKEQWQ EQINQLKKQL DFSVSICQTL
MQDQQTLSCL LQTLLTGPYS VMPSNVASPQ VHFIMHQLNQ CYTQLTWQQN NVQRLKQMLN
ELMRQQNQHP EKPGGKERGS SASHPPSPSL FCPFSFPTQP VNLFNIPGFT NFSSFAPGMN
FSPLFPSNFG DFSQNISTPS EQQQPLAQNS SGKTEYMAFP KPFESSSSIG AEKPRNKKLP
EEEVESSRTP WLYEQEGEVE KPFIKTGFSV SVEKSTSSNR KNQLDTNGRR RQFDEESLES
FSSMPDPVDP TTVTKTFKTR KASAQASLAS KDKTPKSKSK KRNSTQLKSR VKNIRYESAS
MSSTCEPCKS RNRHSAQTEE PVQAKVFSRK NHEQLEKIIK CNRSTEISSE TGSDFSMFEA
LRDTIYSEVA TLISQNESRP HFLIELFHEL QLLNTDYLRQ RALYALQDIV SRHISESHEK
GENVKSVNSG TWIASNSELT PSESLATTDD ETFEKNFERE THKISEQNDA DNASVLSVSS
NFEPFATDDL GNTVIHLDQA LARMREYERM KTEAESNSNM RCTCRIIEDG DGAGAETPVI
ENRSSQQPVS EVSTIPCPRI DTQQLDRQIK AIMKEVIPFL KEHMDEVCSS QLLTSVRRMV
LTLTQQNDES KEFVKFFHKQ LGSILQDSLA KFAGRKLKDC GEDLLVEISE VLFNELAFFK
LMQDLDNNSI TVKQRCKRKI EATGVIQSCA KEAKRILEDH GSPAGEIDDE DKDKDETETV
KQTQTSEVYD GPKNVRSDIS DQEEDEESEG CPVSINLSKA ETQALTNYGS GEDENEDEEM
EEFEEGPVDV QTSLQANTEA TEENEHDEQV LQRDFKKTAE SKNVPLEREA TSKNDQNNCP
VKPCYLNILE DEQPLNSAAH KESPPTVDST QQPNPLPLRL PEMEPLVPRV KEVKSAQETP
ESSLAGSPDT ESPVLVNDYE AESGNISQKS DEEDFVKVED LPLKLTIYSE ADLRKKMVEE
EQKNHLSGEI CEMQTEELAG NSETLKEPET VGAQSI*
speed 0.78 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
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999016922848 (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) chr8:17796382A>GN/A show variant in all transcripts   IGV
HGNC symbol PCM1
Ensembl transcript ID ENST00000524226
Genbank transcript ID N/A
UniProt peptide Q15154
alteration type single base exchange
alteration region CDS
DNA changes c.476A>G
cDNA.535A>G
g.16034A>G
AA changes N159S Score: 46 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 159
frameshift no
known variant Reference ID: rs412750
databasehomozygous (G/G)heterozygousallele carriers
1000G12399802219
ExAC---
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.6490.726
2.3020.919
(flanking)0.0450.919
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained160280.73mu: TGCATCTACAAGCCC CATC|taca
distance from splice site 134
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      159INTNKSKDASTNPPNRETIGSAQC
mutated  all conserved    159INTNKSKDASTSPPNRETIGSAQ
Ptroglodytes  all conserved  ENSPTRG00000020026  159INTNKSKDASTSPPNRETIGSAQ
Mmulatta  all conserved  ENSMMUG00000015487  159INTNKSKDASTSPPNRETIGSAQ
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000031592  159INTNKSKDATASLPKREMTTSAQ
Ggallus  not conserved  ENSGALG00000013602  159INTNKSKDPVSGSQKKESGEPLQ
Trubripes  all conserved  ENSTRUG00000015999  160VNTNKSRDLLGPSSSAPATPAISQEM
Drerio  not conserved  ENSDARG00000062198  161LNTNKSKEPTASTSSTPGGKEHKKQSP
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all conserved  ENSXETG00000012460  157LNTNKEK-SSKSPPKRESSTISS
protein features
start (aa)end (aa)featuredetails 
159159MOD_RESPhosphoserine.lost
218301COILEDPotential.might get lost (downstream of altered splice site)
294294CONFLICTR -> RG (in Ref. 1; AAA60120).might get lost (downstream of altered splice site)
311312CONFLICTEQ -> DE (in Ref. 1; AAA60120).might get lost (downstream of altered splice site)
356356MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
372372MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
399399MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
400424COILEDPotential.might get lost (downstream of altered splice site)
405405CONFLICTE -> K (in Ref. 3; AAH27477).might get lost (downstream of altered splice site)
408408CONFLICTQ -> K (in Ref. 3; AAH27477/AAH65022).might get lost (downstream of altered splice site)
431431MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
447448CONFLICTSV -> CL (in Ref. 1; AAA60120).might get lost (downstream of altered splice site)
487543COILEDPotential.might get lost (downstream of altered splice site)
651682COILEDPotential.might get lost (downstream of altered splice site)
726769COILEDPotential.might get lost (downstream of altered splice site)
760760CONFLICTQ -> H (in Ref. 1; AAA60120).might get lost (downstream of altered splice site)
824858COILEDPotential.might get lost (downstream of altered splice site)
861861MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
866866MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
869869MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
872872MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
877877MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
946946CONFLICTG -> R (in Ref. 1; AAA60120).might get lost (downstream of altered splice site)
952952CONFLICTR -> T (in Ref. 1; AAA60120).might get lost (downstream of altered splice site)
960960MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
991991MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
10041004CONFLICTMissing (in Ref. 1; AAA60120).might get lost (downstream of altered splice site)
10631089COILEDPotential.might get lost (downstream of altered splice site)
10861086CONFLICTQ -> R (in Ref. 1; AAA60120).might get lost (downstream of altered splice site)
11681168CONFLICTQ -> R (in Ref. 1; AAA60120).might get lost (downstream of altered splice site)
11691169CONFLICTN -> I (in Ref. 1; AAA60120).might get lost (downstream of altered splice site)
11701170CONFLICTS -> L (in Ref. 1; AAA60120).might get lost (downstream of altered splice site)
11851185MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
11871187MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
11881188MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12311231MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12571257MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12601260MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12621262MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12791799REGIONInteraction with HAP1.might get lost (downstream of altered splice site)
12901290MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
13141315SITEBreakpoint for translocation to form PCM1-JAK2 fusion protein.might get lost (downstream of altered splice site)
13421342CONFLICTV -> L (in Ref. 1; AAA60120).might get lost (downstream of altered splice site)
13691370SITEBreakpoint for translocation to form PCM1-JAK2 fusion protein.might get lost (downstream of altered splice site)
13731373MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
13821382CONFLICTR -> Q (in Ref. 1; AAA60120).might get lost (downstream of altered splice site)
14351435MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
14371437MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
14701471SITEBreakpoint for translocation to form PCM1-JAK2 fusion protein.might get lost (downstream of altered splice site)
15151539COILEDPotential.might get lost (downstream of altered splice site)
15321532CONFLICTT -> A (in Ref. 4; BAC03656).might get lost (downstream of altered splice site)
16091610SITEBreakpoint for translocation to form PCM1-RET fusion protein.might get lost (downstream of altered splice site)
16561656MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
16971697MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
17301730MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
17651765MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
17681768MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
17761776MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
18491849CONFLICTS -> G (in Ref. 4; BAC03656).might get lost (downstream of altered splice site)
18531864CONFLICTPLEREATSKNDQ -> HWNEKPLVKMTK (in Ref. 1; AAA60120).might get lost (downstream of altered splice site)
18721872CONFLICTC -> S (in Ref. 1; AAA60120).might get lost (downstream of altered splice site)
19132024REGIONInteraction with BBS4.might get lost (downstream of altered splice site)
19471948SITEBreakpoint for translocation to form PCM1-JAK2 fusion protein.might get lost (downstream of altered splice site)
19771977MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
19881988CONFLICTE -> V (in Ref. 4; BAC03656).might get lost (downstream of altered splice site)
19981998CONFLICTI -> M (in Ref. 1; AAA60120).might get lost (downstream of altered splice site)
20232023MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 5583 / 5583
position (AA) of stopcodon in wt / mu AA sequence 1861 / 1861
position of stopcodon in wt / mu cDNA 5642 / 5642
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 60 / 60
chromosome 8
strand 1
last intron/exon boundary 5617
theoretical NMD boundary in CDS 5507
length of CDS 5583
coding sequence (CDS) position 476
cDNA position
(for ins/del: last normal base / first normal base)		 535
gDNA position
(for ins/del: last normal base / first normal base)		 16034
chromosomal position
(for ins/del: last normal base / first normal base)		 17796382
original gDNA sequence snippet GAGCAAAGATGCATCTACAAACCCCCCAAACAGAGAAACGA
altered gDNA sequence snippet GAGCAAAGATGCATCTACAAGCCCCCCAAACAGAGAAACGA
original cDNA sequence snippet GAGCAAAGATGCATCTACAAACCCCCCAAACAGAGAAACGA
altered cDNA sequence snippet GAGCAAAGATGCATCTACAAGCCCCCCAAACAGAGAAACGA
wildtype AA sequence MATGGGPFED GMNDQDLPNW SNENVDDRLN NMDWGAQQKK ANRSSEKNKK KFGVESDKRV
TNDISPESSP GVGRRRTKTP HTFPHSRYMS QMSVPEQAEL EKLKQRINFS DLDQRSIGSD
SQGRATAANN KRQLSENRKP FNFLPMQINT NKSKDASTNP PNRETIGSAQ CKELFASALS
NDLLQNCQVS EEDGRGEPAM ESSQIVSRLV QIRDYITKAS SMREDLVEKN ERSANVERLT
HLIDHLKEQE KSYMKFLKKI LARDPQQEPM EEIENLKKQH DLLKRMLQQQ EQLRALQGRQ
AALLALQHKA EQAIAVMDDS VVAETAGSLS GVSITSELNE ELNDLIQRFH NQLRDSQPPA
VPDNRRQAES LSLTREVSQS RKPSASERLP DEKVELFSKM RVLQEKKQKM DKLLGELHTL
RDQHLNNSSS SPQRSVDQRS TSAPSASVGL APVVNGESNS LTSSVPYPTA SLVSQNESEN
EGHLNPSEKL QKLNEVRKRL NELRELVHYY EQTSDMMTDA VNENRKDEET EESEYDSEHE
NSEPVTNIRN PQVASTWNEV NSHSNAQCVS NNRDGRTVNS NCEINNRSAA NIRALNMPPS
LADCRYNREG EQEIHVAQGE DDEEEEEEAE EEGVSGASLS SHRSSLVDEH PEDAEFEQKI
NRLMAAKQKL RQLQDLVAMV QDDDAAQGVI SASASNLDDF YPAEEDTKQN SNNTRGNANK
TQKDTGVNEK AREKFYEAKL QQQQRELKQL QEERKKLIDI QEKIQALQTA CPDLQLSAAS
VGNCPTKKYM PAVTSTPTVN QHETSTSKSV FEPEDSSIVD NELWSEMRRH EMLREELRQR
RKQLEALMAE HQRRQGLAET ASPVAVSLRS DGSENLCTPQ QSRTEKTMAT WGGSTQCALD
EEGDEDGYLS EGIVRTDEEE EEEQDASSND NFSVCPSNSV NHNSYNGKET KNRWKNNCPF
SADENYRPLA KTRQQNISMQ RQENLRWVSE LSYVEEKEQW QEQINQLKKQ LDFSVSICQT
LMQDQQTLSC LLQTLLTGPY SVMPSNVASP QVHFIMHQLN QCYTQLTWQQ NNVQRLKQML
NELMRQQNQH PEKPGGKERG SSASHPPSPS LFCPFSFPTQ PVNLFNIPGF TNFSSFAPGM
NFSPLFPSNF GDFSQNISTP SEQQQPLAQN SSGKTEYMAF PKPFESSSSI GAEKPRNKKL
PEEEVESSRT PWLYEQEGEV EKPFIKTGFS VSVEKSTSSN RKNQLDTNGR RRQFDEESLE
SFSSMPDPVD PTTVTKTFKT RKASAQASLA SKDKTPKSKS KKRNSTQLKS RVKNIKTGSD
FSMFEALRDT IYSEVATLIS QNESRPHFLI ELFHELQLLN TDYLRQRALY ALQDIVSRHI
SESHEKGENV KSVNSGTWIA SNSELTPSES LATTDDETFE KNFERETHKI SEQNDADNAS
VLSVSSNFEP FATDDLGNTV IHLDQALARM REYERMKTEA ESNSNMRCTC RIIEDGDGAG
AGTTVNNLEE TPVIENRSSQ QPVSEVSTIP CPRIDTQQLD RQIKAIMKEV IPFLKEHMDE
VCSSQLLTSV RRMVLTLTQQ NDESKEFVKF FHKQLGSILQ DSLAKFAGRK LKDCGEDLLV
EISEVLFNEL AFFKLMQDLD NNSITVKQRC KRKIEATGVI QSCAKEAKRI LEDHGSPAGE
IDDEDKDKDE TETVKQTQTS EVYDGPKNVR SDISDQEEDE ESEGCPVSIN LSKAETQALT
NYGSGEDENE DEEMEEFEEG PVDVQTSLQA NTEATEENEH DEQEAESGNI SQKSDEEDFV
KVEDLPLKLT IYSEADLRKK MVEEEQKNHL SGEICEMQTE ELAGNSETLK EPETVGAQSI
*
mutated AA sequence MATGGGPFED GMNDQDLPNW SNENVDDRLN NMDWGAQQKK ANRSSEKNKK KFGVESDKRV
TNDISPESSP GVGRRRTKTP HTFPHSRYMS QMSVPEQAEL EKLKQRINFS DLDQRSIGSD
SQGRATAANN KRQLSENRKP FNFLPMQINT NKSKDASTSP PNRETIGSAQ CKELFASALS
NDLLQNCQVS EEDGRGEPAM ESSQIVSRLV QIRDYITKAS SMREDLVEKN ERSANVERLT
HLIDHLKEQE KSYMKFLKKI LARDPQQEPM EEIENLKKQH DLLKRMLQQQ EQLRALQGRQ
AALLALQHKA EQAIAVMDDS VVAETAGSLS GVSITSELNE ELNDLIQRFH NQLRDSQPPA
VPDNRRQAES LSLTREVSQS RKPSASERLP DEKVELFSKM RVLQEKKQKM DKLLGELHTL
RDQHLNNSSS SPQRSVDQRS TSAPSASVGL APVVNGESNS LTSSVPYPTA SLVSQNESEN
EGHLNPSEKL QKLNEVRKRL NELRELVHYY EQTSDMMTDA VNENRKDEET EESEYDSEHE
NSEPVTNIRN PQVASTWNEV NSHSNAQCVS NNRDGRTVNS NCEINNRSAA NIRALNMPPS
LADCRYNREG EQEIHVAQGE DDEEEEEEAE EEGVSGASLS SHRSSLVDEH PEDAEFEQKI
NRLMAAKQKL RQLQDLVAMV QDDDAAQGVI SASASNLDDF YPAEEDTKQN SNNTRGNANK
TQKDTGVNEK AREKFYEAKL QQQQRELKQL QEERKKLIDI QEKIQALQTA CPDLQLSAAS
VGNCPTKKYM PAVTSTPTVN QHETSTSKSV FEPEDSSIVD NELWSEMRRH EMLREELRQR
RKQLEALMAE HQRRQGLAET ASPVAVSLRS DGSENLCTPQ QSRTEKTMAT WGGSTQCALD
EEGDEDGYLS EGIVRTDEEE EEEQDASSND NFSVCPSNSV NHNSYNGKET KNRWKNNCPF
SADENYRPLA KTRQQNISMQ RQENLRWVSE LSYVEEKEQW QEQINQLKKQ LDFSVSICQT
LMQDQQTLSC LLQTLLTGPY SVMPSNVASP QVHFIMHQLN QCYTQLTWQQ NNVQRLKQML
NELMRQQNQH PEKPGGKERG SSASHPPSPS LFCPFSFPTQ PVNLFNIPGF TNFSSFAPGM
NFSPLFPSNF GDFSQNISTP SEQQQPLAQN SSGKTEYMAF PKPFESSSSI GAEKPRNKKL
PEEEVESSRT PWLYEQEGEV EKPFIKTGFS VSVEKSTSSN RKNQLDTNGR RRQFDEESLE
SFSSMPDPVD PTTVTKTFKT RKASAQASLA SKDKTPKSKS KKRNSTQLKS RVKNIKTGSD
FSMFEALRDT IYSEVATLIS QNESRPHFLI ELFHELQLLN TDYLRQRALY ALQDIVSRHI
SESHEKGENV KSVNSGTWIA SNSELTPSES LATTDDETFE KNFERETHKI SEQNDADNAS
VLSVSSNFEP FATDDLGNTV IHLDQALARM REYERMKTEA ESNSNMRCTC RIIEDGDGAG
AGTTVNNLEE TPVIENRSSQ QPVSEVSTIP CPRIDTQQLD RQIKAIMKEV IPFLKEHMDE
VCSSQLLTSV RRMVLTLTQQ NDESKEFVKF FHKQLGSILQ DSLAKFAGRK LKDCGEDLLV
EISEVLFNEL AFFKLMQDLD NNSITVKQRC KRKIEATGVI QSCAKEAKRI LEDHGSPAGE
IDDEDKDKDE TETVKQTQTS EVYDGPKNVR SDISDQEEDE ESEGCPVSIN LSKAETQALT
NYGSGEDENE DEEMEEFEEG PVDVQTSLQA NTEATEENEH DEQEAESGNI SQKSDEEDFV
KVEDLPLKLT IYSEADLRKK MVEEEQKNHL SGEICEMQTE ELAGNSETLK EPETVGAQSI
*
speed 0.98 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
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Problems