Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.000232683217029942 (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) chr2:54120025A>TN/A show variant in all transcripts   IGV
HGNC symbol PSME4
Ensembl transcript ID ENST00000404125
Genbank transcript ID NM_014614
UniProt peptide Q14997
alteration type single base exchange
alteration region CDS
DNA changes c.4111T>A
cDNA.4167T>A
g.77953T>A
AA changes S1371T Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1371
frameshift no
known variant Reference ID: rs805408
databasehomozygous (T/T)heterozygousallele carriers
1000G35410411395
ExAC66361949526131
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)3.3271
1.4611
(flanking)1.2081
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased77956wt: 0.25 / mu: 0.28wt: ATTCACATGAAAGCA
mu: ATACACATGAAAGCA		 TCAC|atga
Donor marginally increased77957wt: 0.9035 / mu: 0.9564 (marginal change - not scored)wt: TTCACATGAAAGCAC
mu: TACACATGAAAGCAC		 CACA|tgaa
Donor gained779530.42mu: CAGATACACATGAAA GATA|caca
Donor gained779490.87mu: GTTGCAGATACACAT TGCA|gata
distance from splice site 73
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1371LKPHLEHLVADSHESTQRCVAEII
mutated  all conserved    1371LKPHLEHLVADTHESTQRCVA
Ptroglodytes  all identical  ENSPTRG00000011920  1371LKPHLERLVADSHESTQRCVA
Mmulatta  all identical  ENSMMUG00000008104  1249LKPHLERLVADSHESTQRCVAEI
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000040850  1371LKPHLERLVADSHESTQRCVA
Ggallus  all identical  ENSGALG00000008163  1293LQPHLERLVSDSHESTQRCVAEI
Trubripes  all conserved  ENSTRUG00000016378  1358LRPHMERLVADTHESKQRCVSEI
Drerio  all identical  ENSDARG00000018742  1355LKPHMERLANDSHESTQRCVAEI
Dmelanogaster  no homologue    
Celegans  all identical  C14C10.5  1424LLASSKEYEQKLAAEI
Xtropicalis  all identical  ENSXETG00000015195  1356LKPHLERLVADSHESTQRCAAEI
protein features
start (aa)end (aa)featuredetails 
13541392REPEATHEAT 4.lost
14011401CONFLICTL -> F (in Ref. 2; AAH43602).might get lost (downstream of altered splice site)
16361674REPEATHEAT 5.might get lost (downstream of altered splice site)
16801718REPEATHEAT 6.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 5532 / 5532
position (AA) of stopcodon in wt / mu AA sequence 1844 / 1844
position of stopcodon in wt / mu cDNA 5588 / 5588
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 57 / 57
chromosome 2
strand -1
last intron/exon boundary 5593
theoretical NMD boundary in CDS 5486
length of CDS 5532
coding sequence (CDS) position 4111
cDNA position
(for ins/del: last normal base / first normal base)		 4167
gDNA position
(for ins/del: last normal base / first normal base)		 77953
chromosomal position
(for ins/del: last normal base / first normal base)		 54120025
original gDNA sequence snippet TAGAACATTTGGTTGCAGATTCACATGAAAGCACCCAGCGA
altered gDNA sequence snippet TAGAACATTTGGTTGCAGATACACATGAAAGCACCCAGCGA
original cDNA sequence snippet TAGAACATTTGGTTGCAGATTCACATGAAAGCACCCAGCGA
altered cDNA sequence snippet TAGAACATTTGGTTGCAGATACACATGAAAGCACCCAGCGA
wildtype AA sequence MEPAERAGVG EPPEPGGRPE PGPRGFVPQK EIVYNKLLPY AERLDAESDL QLAQIKCNLG
RAVQLQELWP GGLFWTRKLS TYIRLYGRKF SKEDHVLFIK LLYELVSIPK LEISMMQGFA
RLLINLLKKK ELLSRADLEL PWRPLYDMVE RILYSKTEHL GLNWFPNSVE NILKTLVKSC
RPYFPADATA EMLEEWRPLM CPFDVTMQKA ITYFEIFLPT SLPPELHHKG FKLWFDELIG
LWVSVQNLPQ WEGQLVNLFA RLATDNIGYI DWDPYVPKIF TRILRSLNLP VGSSQVLVPR
FLTNAYDIGH AVIWITAMMG GPSKLVQKHL AGLFNSITSF YHPSNNGRWL NKLMKLLQRL
PNSVVRRLHR ERYKKPSWLT PVPDSHKLTD QDVTDFVQCI IQPVLLAMFS KTGSLEAAQA
LQNLALMRPE LVIPPVLERT YPALETLTEP HQLTATLSCV IGVARSLVSG GRWFPEGPTH
MLPLLMRALP GVDPNDFSKC MITFQFIATF STLVPLVDCS SVLQERNDLT EVERELCSAT
AEFEDFVLQF MDRCFGLIES STLEQTREET ETEKMTHLES LVELGLSSTF STILTQCSKE
IFMVALQKVF NFSTSHIFET RVAGRMVADM CRAAVKCCPE ESLKLFVPHC CSVITQLTMN
DDVLNDEELD KELLWNLQLL SEITRVDGRK LLLYREQLVK ILQRTLHLTC KQGYTLSCNL
LHHLLRSTTL IYPTEYCSVP GGFDKPPSEY FPIKDWGKPG DLWNLGIQWH VPSSEEVSFA
FYLLDSFLQP ELVKLQHCGD GKLEMSRDDI LQSLTIVHNC LIGSGNLLPP LKGEPVTNLV
PSMVSLEETK LYTGLEYDLS RENHREVIAT VIRKLLNHIL DNSEDDTKSL FLIIKIIGDL
LQFQGSHKHE FDSRWKSFNL VKKSMENRLH GKKQHIRALL IDRVMLQHEL RTLTVEGCEY
KKIHQDMIRD LLRLSTSSYS QVRNKAQQTF FAALGAYNFC CRDIIPLVLE FLRPDRQGVT
QQQFKGALYC LLGNHSGVCL ANLHDWDCIV QTWPAIVSSG LSQAMSLEKP SIVRLFDDLA
EKIHRQYETI GLDFTIPKSC VEIAELLQQS KNPSINQILL SPEKIKEGIK RQQEKNADAL
RNYENLVDTL LDGVEQRNLP WKFEHIGIGL LSLLLRDDRV LPLRAIRFFV ENLNHDAIVV
RKMAISAVAG ILKQLKRTHK KLTINPCEIS GCPKPTQIIA GDRPDNHWLH YDSKTIPRTK
KEWESSCFVE KTHWGYYTWP KNMVVYAGVE EQPKLGRSRE DMTEAEQIIF DHFSDPKFVE
QLITFLSLED RKGKDKFNPR RFCLFKGIFR NFDDAFLPVL KPHLEHLVAD SHESTQRCVA
EIIAGLIRGS KHWTFEKVEK LWELLCPLLR TALSNITVET YNDWGACIAT SCESRDPRKL
HWLFELLLES PLSGEGGSFV DACRLYVLQG GLAQQEWRVP ELLHRLLKYL EPKLTQVYKN
VRERIGSVLT YIFMIDVSLP NTTPTISPHV PEFTARILEK LKPLMDVDEE IQNHVMEENG
IGEEDERTQG IKLLKTILKW LMASAGRSFS TAVTEQLQLL PLFFKIAPVE NDNSYDELKR
DAKLCLSLMS QGLLYPHQVP LVLQVLKQTA RSSSWHARYT VLTYLQTMVF YNLFIFLNNE
DAVKDIRWLV ISLLEDEQLE VREMAATTLS GLLQCNFLTM DSPMQIHFEQ LCKTKLPKKR
KRDPGSVGDT IPSAELVKRH AGVLGLGACV LSSPYDVPTW MPQLLMNLSA HLNDPQPIEM
TVKKTLSNFR RTHHDNWQEH KQQFTDDQLL VLTDLLVSPC YYA*
mutated AA sequence MEPAERAGVG EPPEPGGRPE PGPRGFVPQK EIVYNKLLPY AERLDAESDL QLAQIKCNLG
RAVQLQELWP GGLFWTRKLS TYIRLYGRKF SKEDHVLFIK LLYELVSIPK LEISMMQGFA
RLLINLLKKK ELLSRADLEL PWRPLYDMVE RILYSKTEHL GLNWFPNSVE NILKTLVKSC
RPYFPADATA EMLEEWRPLM CPFDVTMQKA ITYFEIFLPT SLPPELHHKG FKLWFDELIG
LWVSVQNLPQ WEGQLVNLFA RLATDNIGYI DWDPYVPKIF TRILRSLNLP VGSSQVLVPR
FLTNAYDIGH AVIWITAMMG GPSKLVQKHL AGLFNSITSF YHPSNNGRWL NKLMKLLQRL
PNSVVRRLHR ERYKKPSWLT PVPDSHKLTD QDVTDFVQCI IQPVLLAMFS KTGSLEAAQA
LQNLALMRPE LVIPPVLERT YPALETLTEP HQLTATLSCV IGVARSLVSG GRWFPEGPTH
MLPLLMRALP GVDPNDFSKC MITFQFIATF STLVPLVDCS SVLQERNDLT EVERELCSAT
AEFEDFVLQF MDRCFGLIES STLEQTREET ETEKMTHLES LVELGLSSTF STILTQCSKE
IFMVALQKVF NFSTSHIFET RVAGRMVADM CRAAVKCCPE ESLKLFVPHC CSVITQLTMN
DDVLNDEELD KELLWNLQLL SEITRVDGRK LLLYREQLVK ILQRTLHLTC KQGYTLSCNL
LHHLLRSTTL IYPTEYCSVP GGFDKPPSEY FPIKDWGKPG DLWNLGIQWH VPSSEEVSFA
FYLLDSFLQP ELVKLQHCGD GKLEMSRDDI LQSLTIVHNC LIGSGNLLPP LKGEPVTNLV
PSMVSLEETK LYTGLEYDLS RENHREVIAT VIRKLLNHIL DNSEDDTKSL FLIIKIIGDL
LQFQGSHKHE FDSRWKSFNL VKKSMENRLH GKKQHIRALL IDRVMLQHEL RTLTVEGCEY
KKIHQDMIRD LLRLSTSSYS QVRNKAQQTF FAALGAYNFC CRDIIPLVLE FLRPDRQGVT
QQQFKGALYC LLGNHSGVCL ANLHDWDCIV QTWPAIVSSG LSQAMSLEKP SIVRLFDDLA
EKIHRQYETI GLDFTIPKSC VEIAELLQQS KNPSINQILL SPEKIKEGIK RQQEKNADAL
RNYENLVDTL LDGVEQRNLP WKFEHIGIGL LSLLLRDDRV LPLRAIRFFV ENLNHDAIVV
RKMAISAVAG ILKQLKRTHK KLTINPCEIS GCPKPTQIIA GDRPDNHWLH YDSKTIPRTK
KEWESSCFVE KTHWGYYTWP KNMVVYAGVE EQPKLGRSRE DMTEAEQIIF DHFSDPKFVE
QLITFLSLED RKGKDKFNPR RFCLFKGIFR NFDDAFLPVL KPHLEHLVAD THESTQRCVA
EIIAGLIRGS KHWTFEKVEK LWELLCPLLR TALSNITVET YNDWGACIAT SCESRDPRKL
HWLFELLLES PLSGEGGSFV DACRLYVLQG GLAQQEWRVP ELLHRLLKYL EPKLTQVYKN
VRERIGSVLT YIFMIDVSLP NTTPTISPHV PEFTARILEK LKPLMDVDEE IQNHVMEENG
IGEEDERTQG IKLLKTILKW LMASAGRSFS TAVTEQLQLL PLFFKIAPVE NDNSYDELKR
DAKLCLSLMS QGLLYPHQVP LVLQVLKQTA RSSSWHARYT VLTYLQTMVF YNLFIFLNNE
DAVKDIRWLV ISLLEDEQLE VREMAATTLS GLLQCNFLTM DSPMQIHFEQ LCKTKLPKKR
KRDPGSVGDT IPSAELVKRH AGVLGLGACV LSSPYDVPTW MPQLLMNLSA HLNDPQPIEM
TVKKTLSNFR RTHHDNWQEH KQQFTDDQLL VLTDLLVSPC YYA*
speed 0.83 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