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 ENST00000451104
Genbank transcript ID NM_001242309
UniProt peptide Q5JRX3
alteration type single base exchange
alteration region CDS
DNA changes c.886A>G
cDNA.889A>G
g.12939A>G
AA changes I296V Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 296
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      296SFATDPSKQTTISVSFLLPDITDT
mutated  all conserved    296SFATDPSKQTTVSVSF
Ptroglodytes  all conserved  ENSPTRG00000002244  328SFATDPSKQTTVSVSFLLPDITD
Mmulatta  not conserved  ENSMMUG00000004938  328SFATDPSKQTTASVSFLLPDITD
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000021193  328SLATETAKQTTVSVSFLLPDITD
Ggallus  all conserved  ENSGALG00000007036  330SFASDPSKQTTVSVSYLLTDITD
Trubripes  no homologue    
Drerio  all conserved  ENSDARG00000038563  323ALAPDPVKQNTLCMSFLLGD
Dmelanogaster  all identical  FBgn0033005  352NMGTTIDRQNQIAIALLMCDATN
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 2820 / 2820
position (AA) of stopcodon in wt / mu AA sequence 940 / 940
position of stopcodon in wt / mu cDNA 2823 / 2823
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 4 / 4
chromosome 10
strand -1
last intron/exon boundary 2730
theoretical NMD boundary in CDS 2676
length of CDS 2820
coding sequence (CDS) position 886
cDNA position
(for ins/del: last normal base / first normal base)		 889
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 MRNVALRRAA GPVCAEAAER RVTSVPELFL TAVKLTHDDT GARYLHLARE DTNNLFSVQF
RTTPMDSTGV PHILEHTVLC GSQKYPCRDP FFKMLNRSLS TFMNAFTASD YTLYPFSTQN
PKDFQNLLSV YLDATFFPCL RELDFWQEGW RLEHENPSDP QTPLVFKGVV FNEMKGAFTD
NERIFSQHLQ NRLLPDHTYS VVSGGDPLCI PELTWEQLKQ FHATHYHPSN ARFFTYGNFP
LEQHLKQIHE EALSKFQKIE PSTVVPAQTP WDKPREFQIT CGPDSFATDP SKQTTISVSF
LLPDITDTFE AFTLSLLSSL LTSGPNSPFY KALIESGLGT DFSPDVGYNG YTREAYFSVG
LQGIAEKDIE TVRSLIDRTI DEVVEKGFED DRIEALLHKI EIQMKHQSTS FGLMLTSYIA
SCWNHDGDPV ELLKLGNQLA KFRQCLQENP KFLQEKVKQY FKNNQHKLTL SMRPDDKYHE
KQAQVEATKL KQKVEALSPG DRQQIYEKGL ELRSQQSKPQ DASCLPALKV SDIEPTIPVT
ELDVVLTAGD IPVQYCAQPT NGMVYFRAFS SLNTLPEELR PYVPLFCSVL TNPCFEEEEH
FKVLVKMTAQ ELANGIPDSG HLYASIRAGR TLTPAGDLQE TFSGMDQVRL MKRIAEMTDI
KPILRKLPRI KKHLLNGDNM RCSVNATPQQ MPQTEKAVED FLRSIGRSKK ERRPVRPHTV
EKPVPSSSGG DAHVPHGSQV IRKLVMEPTF KPWQMKTHFL MPFPVNYVGE CIRTVPYTDP
DHASLKILAR LMTAKFLHTE IREKGGAYGG GAKLSHNGIF TLYSYRDPNT IETLQSFGKA
VDWAKSGKFT QQDIDEAKLS VFSTVDAPVA PSDKGMDHFL YGLSDEMKQA HREQLFAVSH
DKLLAVSDRY LGTGKSTHGL AILGPENPKI AKDPSWIIQ*
mutated AA sequence MRNVALRRAA GPVCAEAAER RVTSVPELFL TAVKLTHDDT GARYLHLARE DTNNLFSVQF
RTTPMDSTGV PHILEHTVLC GSQKYPCRDP FFKMLNRSLS TFMNAFTASD YTLYPFSTQN
PKDFQNLLSV YLDATFFPCL RELDFWQEGW RLEHENPSDP QTPLVFKGVV FNEMKGAFTD
NERIFSQHLQ NRLLPDHTYS VVSGGDPLCI PELTWEQLKQ FHATHYHPSN ARFFTYGNFP
LEQHLKQIHE EALSKFQKIE PSTVVPAQTP WDKPREFQIT CGPDSFATDP SKQTTVSVSF
LLPDITDTFE AFTLSLLSSL LTSGPNSPFY KALIESGLGT DFSPDVGYNG YTREAYFSVG
LQGIAEKDIE TVRSLIDRTI DEVVEKGFED DRIEALLHKI EIQMKHQSTS FGLMLTSYIA
SCWNHDGDPV ELLKLGNQLA KFRQCLQENP KFLQEKVKQY FKNNQHKLTL SMRPDDKYHE
KQAQVEATKL KQKVEALSPG DRQQIYEKGL ELRSQQSKPQ DASCLPALKV SDIEPTIPVT
ELDVVLTAGD IPVQYCAQPT NGMVYFRAFS SLNTLPEELR PYVPLFCSVL TNPCFEEEEH
FKVLVKMTAQ ELANGIPDSG HLYASIRAGR TLTPAGDLQE TFSGMDQVRL MKRIAEMTDI
KPILRKLPRI KKHLLNGDNM RCSVNATPQQ MPQTEKAVED FLRSIGRSKK ERRPVRPHTV
EKPVPSSSGG DAHVPHGSQV IRKLVMEPTF KPWQMKTHFL MPFPVNYVGE CIRTVPYTDP
DHASLKILAR LMTAKFLHTE IREKGGAYGG GAKLSHNGIF TLYSYRDPNT IETLQSFGKA
VDWAKSGKFT QQDIDEAKLS VFSTVDAPVA PSDKGMDHFL YGLSDEMKQA HREQLFAVSH
DKLLAVSDRY LGTGKSTHGL AILGPENPKI AKDPSWIIQ*
speed 0.94 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