Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.964386319326029 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM1213487)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr17:76817090C>TN/A show variant in all transcripts   IGV
HGNC symbol USP36
Ensembl transcript ID ENST00000312010
Genbank transcript ID NM_025090
UniProt peptide Q9P275
alteration type single base exchange
alteration region CDS
DNA changes c.811G>A
cDNA.1136G>A
g.20434G>A
AA changes V271I Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 271
frameshift no
known variant Reference ID: rs3744793
databasehomozygous (T/T)heterozygousallele carriers
1000G37310501423
ExAC87451527724022

known disease mutation at this position, please check HGMD for details (HGMD ID CM1213487)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me1, Histone, Histone 3 Lysine 9 mono-methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)4.8010.988
0.4170.986
(flanking)0.4510.988
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased20439wt: 0.22 / mu: 0.50wt: GTCGCGCTGGAGATC
mu: ATCGCGCTGGAGATC		 CGCG|ctgg
distance from splice site 18
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      271SVSDTYDPYLDVALEIRQAANIVR
mutated  all conserved    271SVSDTYDPYLDIALEIRQAANIV
Ptroglodytes  all identical  ENSPTRG00000009718  271SVSDTYDPYLDVALEIRQAANIV
Mmulatta  all identical  ENSMMUG00000005352  274SVSDTYDPYLDVALEIRQAANIV
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000033909  271SVSDTYDPYLDIALEIRQAANIV
Ggallus  no homologue    
Trubripes  all conserved  ENSTRUG00000011308  271SVSDTYDPYLDIAVEIRQAANIV
Drerio  all conserved  ENSDARG00000032327  271SVSDTYDPYLDIALEIRQAANIV
Dmelanogaster  all conserved  FBgn0260936  326HVSITFQHFQDLLLDIRKADSLE
Celegans  no homologue    
Xtropicalis  all conserved  ENSXETG00000004632  270NVSDTYDPYLDIALEIRNVPNIV
protein features
start (aa)end (aa)featuredetails 
382382ACT_SITEProton acceptor (By similarity).might get lost (downstream of altered splice site)
464464MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
494494MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
513513MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
515515MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
546546MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
573573CONFLICTD -> G (in Ref. 3; BAA91825).might get lost (downstream of altered splice site)
582582MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
613613MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
614614MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
653653MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
667667MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
680680MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
682682MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
713713MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
742742MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
874874MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
952952MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
10481048MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3372 / 3372
position (AA) of stopcodon in wt / mu AA sequence 1124 / 1124
position of stopcodon in wt / mu cDNA 3697 / 3697
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 326 / 326
chromosome 17
strand -1
last intron/exon boundary 3566
theoretical NMD boundary in CDS 3190
length of CDS 3372
coding sequence (CDS) position 811
cDNA position
(for ins/del: last normal base / first normal base)		 1136
gDNA position
(for ins/del: last normal base / first normal base)		 20434
chromosomal position
(for ins/del: last normal base / first normal base)		 76817090
original gDNA sequence snippet CCTACGACCCCTACTTGGACGTCGCGCTGGAGATCCGGGTA
altered gDNA sequence snippet CCTACGACCCCTACTTGGACATCGCGCTGGAGATCCGGGTA
original cDNA sequence snippet CCTACGACCCCTACTTGGACGTCGCGCTGGAGATCCGGCAA
altered cDNA sequence snippet CCTACGACCCCTACTTGGACATCGCGCTGGAGATCCGGCAA
wildtype AA sequence MPIVDKLKEA LKPGRKDSAD DGELGKLLAS SAKKVLLQKI EFEPASKSFS YQLEALKSKY
VLLNPKTEGA SRHKSGDDPP ARRQGSEHTY ESCGDGVPAP QKVLFPTERL SLRWERVFRV
GAGLHNLGNT CFLNATIQCL TYTPPLANYL LSKEHARSCH QGSFCMLCVM QNHIVQAFAN
SGNAIKPVSF IRDLKKIARH FRFGNQEDAH EFLRYTIDAM QKACLNGCAK LDRQTQATTL
VHQIFGGYLR SRVKCSVCKS VSDTYDPYLD VALEIRQAAN IVRALELFVK ADVLSGENAY
MCAKCKKKVP ASKRFTIHRT SNVLTLSLKR FANFSGGKIT KDVGYPEFLN IRPYMSQNNG
DPVMYGLYAV LVHSGYSCHA GHYYCYVKAS NGQWYQMNDS LVHSSNVKVV LNQQAYVLFY
LRIPGSKKSP EGLISRTGSS SLPGRPSVIP DHSKKNIGNG IISSPLTGKR QDSGTMKKPH
TTEEIGVPIS RNGSTLGLKS QNGCIPPKLP SGSPSPKLSQ TPTHMPTILD DPGKKVKKPA
PPQHFSPRTA QGLPGTSNSN SSRSGSQRQG SWDSRDVVLS TSPKLLATAT ANGHGLKGND
ESAGLDRRGS SSSSPEHSAS SDSTKAPQTP RSGAAHLCDS QETNCSTAGH SKTPPSGADS
KTVKLKSPVL SNTTTEPAST MSPPPAKKLA LSAKKASTLW RATGNDLRPP PPSPSSDLTH
PMKTSHPVVA STWPVHRARA VSPAPQSSSR LQPPFSPHPT LLSSTPKPPG TSEPRSCSSI
STALPQVNED LVSLPHQLPE ASEPPQSPSE KRKKTFVGEP QRLGSETRLP QHIREATAAP
HGKRKRKKKK RPEDTAASAL QEGQTQRQPG SPMYRREGQA QLPAVRRQED GTQPQVNGQQ
VGCVTDGHHA SSRKRRRKGA EGLGEEGGLH QDPLRHSCSP MGDGDPEAME ESPRKKKKKK
RKQETQRAVE EDGHLKCPRS AKPQDAVVPE SSSCAPSANG WCPGDRMGLS QAPPVSWNGE
RESDVVQELL KYSSDKAYGR KVLTWDGKMS AVSQDAIEDS RQARTETVVD DWDEEFDRGK
EKKIKKFKRE KRRNFNAFQK LQTRRNFWSV THPAKAASLS YRR*
mutated AA sequence MPIVDKLKEA LKPGRKDSAD DGELGKLLAS SAKKVLLQKI EFEPASKSFS YQLEALKSKY
VLLNPKTEGA SRHKSGDDPP ARRQGSEHTY ESCGDGVPAP QKVLFPTERL SLRWERVFRV
GAGLHNLGNT CFLNATIQCL TYTPPLANYL LSKEHARSCH QGSFCMLCVM QNHIVQAFAN
SGNAIKPVSF IRDLKKIARH FRFGNQEDAH EFLRYTIDAM QKACLNGCAK LDRQTQATTL
VHQIFGGYLR SRVKCSVCKS VSDTYDPYLD IALEIRQAAN IVRALELFVK ADVLSGENAY
MCAKCKKKVP ASKRFTIHRT SNVLTLSLKR FANFSGGKIT KDVGYPEFLN IRPYMSQNNG
DPVMYGLYAV LVHSGYSCHA GHYYCYVKAS NGQWYQMNDS LVHSSNVKVV LNQQAYVLFY
LRIPGSKKSP EGLISRTGSS SLPGRPSVIP DHSKKNIGNG IISSPLTGKR QDSGTMKKPH
TTEEIGVPIS RNGSTLGLKS QNGCIPPKLP SGSPSPKLSQ TPTHMPTILD DPGKKVKKPA
PPQHFSPRTA QGLPGTSNSN SSRSGSQRQG SWDSRDVVLS TSPKLLATAT ANGHGLKGND
ESAGLDRRGS SSSSPEHSAS SDSTKAPQTP RSGAAHLCDS QETNCSTAGH SKTPPSGADS
KTVKLKSPVL SNTTTEPAST MSPPPAKKLA LSAKKASTLW RATGNDLRPP PPSPSSDLTH
PMKTSHPVVA STWPVHRARA VSPAPQSSSR LQPPFSPHPT LLSSTPKPPG TSEPRSCSSI
STALPQVNED LVSLPHQLPE ASEPPQSPSE KRKKTFVGEP QRLGSETRLP QHIREATAAP
HGKRKRKKKK RPEDTAASAL QEGQTQRQPG SPMYRREGQA QLPAVRRQED GTQPQVNGQQ
VGCVTDGHHA SSRKRRRKGA EGLGEEGGLH QDPLRHSCSP MGDGDPEAME ESPRKKKKKK
RKQETQRAVE EDGHLKCPRS AKPQDAVVPE SSSCAPSANG WCPGDRMGLS QAPPVSWNGE
RESDVVQELL KYSSDKAYGR KVLTWDGKMS AVSQDAIEDS RQARTETVVD DWDEEFDRGK
EKKIKKFKRE KRRNFNAFQK LQTRRNFWSV THPAKAASLS YRR*
speed 1.23 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