Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.0704077158537488 (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) chr8:17817553G>TN/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.2071G>T
cDNA.2322G>T
g.37205G>T
AA changes A691S Score: 99 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 691
frameshift no
known variant Reference ID: rs17635381
databasehomozygous (T/T)heterozygousallele carriers
1000G85553638
ExAC14621390915371
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.8020.997
3.6311
(flanking)2.1560.998
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased37208wt: 0.31 / mu: 0.62wt: CTCAAGGAGTTATCTCTGCCAGTGCATCAAATTTGGATGAT
mu: CTCAAGGAGTTATCTCTTCCAGTGCATCAAATTTGGATGAT		 gcca|GTGC
Acc gained372120.55mu: AGGAGTTATCTCTTCCAGTGCATCAAATTTGGATGATTTCT gtgc|ATCA
Acc gained372160.45mu: GTTATCTCTTCCAGTGCATCAAATTTGGATGATTTCTACCC atca|AATT
Acc gained372100.55mu: CAAGGAGTTATCTCTTCCAGTGCATCAAATTTGGATGATTT cagt|GCAT
distance from splice site 31
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      691QDDDAAQGVISASASNLDDFYPAE
mutated  all conserved    691QDDDAAQGVISSSASNLDDFYPA
Ptroglodytes  all identical  ENSPTRG00000020026  691QDDDAAQGVISANASNLDDFYPA
Mmulatta  all identical  ENSMMUG00000015487  691QDDDAAQGVISANMSNLDDFYPA
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000031592  692QDDDATQVVVPA-ASNLDDFYAA
Ggallus  all identical  ENSGALG00000013602  691QDDDPEPQVLTANASNMGDFLGE
Trubripes  not conserved  ENSTRUG00000015999  771QSDDT-----DGTTANEDDIL--
Drerio  not conserved  ENSDARG00000062198  757QSDDT-----DGTTANE
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000012460  723GDDSESEPVAPERSFSGDQLPPE
protein features
start (aa)end (aa)featuredetails 
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 2071
cDNA position
(for ins/del: last normal base / first normal base)		 2322
gDNA position
(for ins/del: last normal base / first normal base)		 37205
chromosomal position
(for ins/del: last normal base / first normal base)		 17817553
original gDNA sequence snippet CAGCTCAAGGAGTTATCTCTGCCAGTGCATCAAATTTGGAT
altered gDNA sequence snippet CAGCTCAAGGAGTTATCTCTTCCAGTGCATCAAATTTGGAT
original cDNA sequence snippet CAGCTCAAGGAGTTATCTCTGCCAGTGCATCAAATTTGGAT
altered cDNA sequence snippet CAGCTCAAGGAGTTATCTCTTCCAGTGCATCAAATTTGGAT
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 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 SSASNLDDFY 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 0.76 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