Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999995198913 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr10:3202065T>CN/A show variant in all transcripts   IGV
HGNC symbol PITRM1
Ensembl transcript ID ENST00000224949
Genbank transcript ID N/A
UniProt peptide Q5JRX3
alteration type single base exchange
alteration region CDS
DNA changes c.982A>G
cDNA.1017A>G
g.12939A>G
AA changes I328V Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 328
frameshift no
known variant Reference ID: rs4242746
databasehomozygous (C/C)heterozygousallele carriers
1000G97211652137
ExAC21722-1067711045
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)3.4280.996
0.2560.081
(flanking)-4.6450
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 26
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      328SFATDPSKQTTISVSFLLPDITDT
mutated  all conserved    328SFATDPSKQTTVSVSFLLPDITD
Ptroglodytes  all conserved  ENSPTRG00000002244  328SFATDPSKQTTVSVSFLLPDITD
Mmulatta  not conserved  ENSMMUG00000004938  328SFATDPSKQTTASVSFLLPDITD
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000021193  328SLATETAKQTTVSVSFLLPDITD
Ggallus  all conserved  ENSGALG00000007036  330PSKQTTVSVSYLLTDITD
Trubripes  no homologue    
Drerio  all conserved  ENSDARG00000038563  323ALAPDPVKQNTLCMSFLLGDITD
Dmelanogaster  all identical  FBgn0033005  352NMGTTIDRQNQIAIALL
Celegans  no homologue    
Xtropicalis  no homologue    
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3114 / 3114
position (AA) of stopcodon in wt / mu AA sequence 1038 / 1038
position of stopcodon in wt / mu cDNA 3149 / 3149
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 36 / 36
chromosome 10
strand -1
last intron/exon boundary 3056
theoretical NMD boundary in CDS 2970
length of CDS 3114
coding sequence (CDS) position 982
cDNA position
(for ins/del: last normal base / first normal base)		 1017
gDNA position
(for ins/del: last normal base / first normal base)		 12939
chromosomal position
(for ins/del: last normal base / first normal base)		 3202065
original gDNA sequence snippet ATCCCTCTAAACAAACAACCATCAGCGTTAGCTTCCTCTTA
altered gDNA sequence snippet ATCCCTCTAAACAAACAACCGTCAGCGTTAGCTTCCTCTTA
original cDNA sequence snippet ATCCCTCTAAACAAACAACCATCAGCGTTAGCTTCCTCTTA
altered cDNA sequence snippet ATCCCTCTAAACAAACAACCGTCAGCGTTAGCTTCCTCTTA
wildtype AA sequence MWRCGGRQGL CVLRRLSGGH AHHRAWRWNS NRACERALQY KLGDKIHGFT VNQVTSVPEL
FLTAVKLTHD DTGARYLHLA REDTNNLFSV QFRTTPMDST GVPHILEHTV LCGSQKYPCR
DPFFKMLNRS LSTFMNAFTA SDYTLYPFST QNPKDFQNLL SVYLDATFFP CLRELDFWQE
GWRLEHENPS DPQTPLVFKG VVFNEMKGAF VNNERIFSQH LQNRLLPDHT YSVVSGGDPL
CIPELTWEQL KQFHATHYHP SNARFFTYGN FPLEQHLKQI HEEALSKFQK IEPSTVVPAQ
TPWDKPREFQ ITCGPDSFAT DPSKQTTISV SFLLPDITDT FEAFTLSLLS SLLTSGPNSP
FYKALIESGL GTDFSPDVGY NGYTREAYFS VGLQGIAEKD IETVRSLIDR TIDEVVEKGF
EDDRIEALLH KIEIQMKHQS TSFGLMLTSY IASCWNHDGD PVELLKLGNQ LAKFRQCLQE
NPKFLQEKVK QYFKNNQHKL TLSMRPDDKY HEKQAQVEAT KLKQKVEALS PGDRQQIYEK
GLELRSQQSK PQDASCLPAL KVSDIEPTIP VTELDVVLTA GDIPVQYCAQ PTNGMVYFRA
FSSLNTLPEE LRPYVPLFCS VLTKLGCGLL DYREQAQQIE LKTGGMSASP HVLPDDSHMD
TYEQGVLFSS LCLDRNLPDM MQLWSEIFNN PCFEEEEHFK VLVKMTAQEL ANGIPDSGHL
YASIRAGRTL TPAGDLQETF SGMDQVRLMK RIAEMTDIKP ILRKLPRIKK HLLNGDNMRC
SVNATPQQMP QTEKAVEDFL RSIGRSKKER RPVRPHTVEK PVPSSSGGDA HVPHGSQVIR
KLVMEPTFKP WQMKTHFLMP FPVNYVGECI RTVPYTDPDH ASLKILARLM TAKFLHTEIR
EKGGAYGGGA KLSHNGIFTL YSYRDPNTIE TLQSFGKAVD WAKSGKFTQQ DIDEAKLSVF
STVDAPVAPS DKGMDHFLYG LSDEMKQAHR EQLFAVSHDK LLAVSDRYLG TGKSTHGLAI
LGPENPKIAK DPSWIIQ*
mutated AA sequence MWRCGGRQGL CVLRRLSGGH AHHRAWRWNS NRACERALQY KLGDKIHGFT VNQVTSVPEL
FLTAVKLTHD DTGARYLHLA REDTNNLFSV QFRTTPMDST GVPHILEHTV LCGSQKYPCR
DPFFKMLNRS LSTFMNAFTA SDYTLYPFST QNPKDFQNLL SVYLDATFFP CLRELDFWQE
GWRLEHENPS DPQTPLVFKG VVFNEMKGAF VNNERIFSQH LQNRLLPDHT YSVVSGGDPL
CIPELTWEQL KQFHATHYHP SNARFFTYGN FPLEQHLKQI HEEALSKFQK IEPSTVVPAQ
TPWDKPREFQ ITCGPDSFAT DPSKQTTVSV SFLLPDITDT FEAFTLSLLS SLLTSGPNSP
FYKALIESGL GTDFSPDVGY NGYTREAYFS VGLQGIAEKD IETVRSLIDR TIDEVVEKGF
EDDRIEALLH KIEIQMKHQS TSFGLMLTSY IASCWNHDGD PVELLKLGNQ LAKFRQCLQE
NPKFLQEKVK QYFKNNQHKL TLSMRPDDKY HEKQAQVEAT KLKQKVEALS PGDRQQIYEK
GLELRSQQSK PQDASCLPAL KVSDIEPTIP VTELDVVLTA GDIPVQYCAQ PTNGMVYFRA
FSSLNTLPEE LRPYVPLFCS VLTKLGCGLL DYREQAQQIE LKTGGMSASP HVLPDDSHMD
TYEQGVLFSS LCLDRNLPDM MQLWSEIFNN PCFEEEEHFK VLVKMTAQEL ANGIPDSGHL
YASIRAGRTL TPAGDLQETF SGMDQVRLMK RIAEMTDIKP ILRKLPRIKK HLLNGDNMRC
SVNATPQQMP QTEKAVEDFL RSIGRSKKER RPVRPHTVEK PVPSSSGGDA HVPHGSQVIR
KLVMEPTFKP WQMKTHFLMP FPVNYVGECI RTVPYTDPDH ASLKILARLM TAKFLHTEIR
EKGGAYGGGA KLSHNGIFTL YSYRDPNTIE TLQSFGKAVD WAKSGKFTQQ DIDEAKLSVF
STVDAPVAPS DKGMDHFLYG LSDEMKQAHR EQLFAVSHDK LLAVSDRYLG TGKSTHGLAI
LGPENPKIAK DPSWIIQ*
speed 0.88 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