Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999949 (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) chr1:62516683G>CN/A show variant in all transcripts   IGV
HGNC symbol PATJ
Ensembl transcript ID ENST00000371158
Genbank transcript ID NM_176877
UniProt peptide Q8NI35
alteration type single base exchange
alteration region CDS
DNA changes c.4078G>C
cDNA.4192G>C
g.308535G>C
AA changes V1360L Score: 32 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1360
frameshift no
known variant Reference ID: rs2498982
databasehomozygous (C/C)heterozygousallele carriers
1000G88710851972
ExAC19393-601913374
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.2930
-0.2980
(flanking)0.6750
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 46
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1360TEPISSEEDGSVEVGIKQLPESES
mutated  all conserved    1360TEPISSEEDGSLEVGIKQLPESE
Ptroglodytes  all conserved  ENSPTRG00000000806  1360TEPISSEEDGSLEVGIKQLPESE
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000061859  1366TELVSSEEESSVDA--KHLPEP
Ggallus  all conserved  ENSGALG00000010934  1366SLDVVMKSLSDEE
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000024964  1369VTATASSDPTHKSLTDG--ESAVKKLKPAEKLLESPSEQ
Dmelanogaster  no alignment  FBgn0067864  n/a
Celegans  not conserved  C52A11.4  2019LAPSESKSTAP------QMPTTT
Xtropicalis  no alignment  ENSXETG00000030379  n/a
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 5406 / 5406
position (AA) of stopcodon in wt / mu AA sequence 1802 / 1802
position of stopcodon in wt / mu cDNA 5520 / 5520
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 115 / 115
chromosome 1
strand 1
last intron/exon boundary 5493
theoretical NMD boundary in CDS 5328
length of CDS 5406
coding sequence (CDS) position 4078
cDNA position
(for ins/del: last normal base / first normal base)		 4192
gDNA position
(for ins/del: last normal base / first normal base)		 308535
chromosomal position
(for ins/del: last normal base / first normal base)		 62516683
original gDNA sequence snippet GTAGTGAGGAAGATGGCAGCGTCGAAGTTGGTATTAAACAA
altered gDNA sequence snippet GTAGTGAGGAAGATGGCAGCCTCGAAGTTGGTATTAAACAA
original cDNA sequence snippet GTAGTGAGGAAGATGGCAGCGTCGAAGTTGGTATTAAACAA
altered cDNA sequence snippet GTAGTGAGGAAGATGGCAGCCTCGAAGTTGGTATTAAACAA
wildtype AA sequence MPENPATDKL QVLQVLDRLK MKLQEKGDTS QNEKLSMFYE TLKSPLFNQI LTLQQSIKQL
KGQLNHIPSD CSANFDFSRK GLLVFTDGSI TNGNVHRPSN NSTVSGLFPW TPKLGNEDFN
SVIQQMAQGR QIEYIDIERP STGGLGFSVV ALRSQNLGKV DIFVKDVQPG SVADRDQRLK
ENDQILAINH TPLDQNISHQ QAIALLQQTT GSLRLIVARE PVHTKSSTSS SLNDTTLPET
VCWGHVEEVE LINDGSGLGF GIVGGKTSGV VVRTIVPGGL ADRDGRLQTG DHILKIGGTN
VQGMTSEQVA QVLRNCGNSV RMLVARDPAG DISVTPPAPA ALPVALPTVA SKGPGSDSSL
FETYNVELVR KDGQSLGIRI VGYVGTSHTG EASGIYVKSI IPGSAAYHNG HIQVNDKIVA
VDGVNIQGFA NHDVVEVLRN AGQVVHLTLV RRKTSSSTSP LEPPSDRGTV VEPLKPPALF
LTGAVETETN VDGEDEEIKE RIDTLKNDNI QALEKLEKVP DSPENELKSR WENLLGPDYE
VMVATLDTQI ADDAELQKYS KLLPIHTLRL GVEVDSFDGH HYISSIVSGG PVDTLGLLQP
EDELLEVNGM QLYGKSRREA VSFLKEVPPP FTLVCCRRLF DDEASVDEPR RTETSLPETE
VDHNMDVNTE EDDDGELALW SPEVKIVELV KDCKGLGFSI LDYQDPLDPT RSVIVIRSLV
ADGVAERSGG LLPGDRLVSV NEYCLDNTSL AEAVEILKAV PPGLVHLGIC KPLVEDNEEE
SCYILHSSSN EDKTEFSGTI HDINSSLILE APKGFRDEPY FKEELVDEPF LDLGKSFHSQ
QKEIEQSKEA WEMHEFLTPR LQEMDEEREI LVDEEYELYQ DPSPSMELYP LSHIQEATPV
PSVNELHFGT QWLHDNEPSE SQEARTGRTV YSQEAQPYGY CPENVMKENF VMESLPSVPS
TEGNSQQGRF DDLENLNSLA KTSLDLGMIP NDVQGPSLLI DLPVVAQRRE QEDLPLYQHQ
ATRVISKASA YTGMLSSRYA TDTCELPERE EGEGEETPNF SHWGPPRIVE IFREPNVSLG
ISIVGGQTVI KRLKNGEELK GIFIKQVLED SPAGKTNALK TGDKILEVSG VDLQNASHSE
AVEAIKNAGN PVVFIVQSLS STPRVIPNVH NKANKITGNQ NQDTQEKKEK RQGTAPPPMK
LPPPYKALTD DSDENEEEDA FTDQKIRQRY ADLPGELHII ELEKDKNGLG LSLAGNKDRS
RMSIFVVGIN PEGPAAADGR MRIGDELLEI NNQILYGRSH QNASAIIKTA PSKVKLVFIR
NEDAVNQMAV TPFPVPSSSP SSIEDQSGTE PISSEEDGSV EVGIKQLPES ESFKLAVSQM
KQQKYPTKVS FSSQEIPLAP ASSYHSTDAD FTGYGGFQAP LSVDPATCPI VPGQEMIIEI
SKGRSGLGLS IVGGKDTPLN AIVIHEVYEE GAAARDGRLW AGDQILEVNG VDLRNSSHEE
AITALRQTPQ KVRLVVYRDE AHYRDEENLE IFPVDLQKKA GRGLGLSIVG KRNGSGVFIS
DIVKGGAADL DGRLIQGDQI LSVNGEDMRN ASQETVATIL KCAQGLVQLE IGRLRAGSWT
SARTTSQNSQ GSQQSAHSSC HPSFAPVITG LQNLVGTKRV SDPSQKNSGT DMEPRTVEIN
RELSDALGIS IAGGRGSPLG DIPVFIAMIQ ASGVAARTQK LKVGDRIVSI NGQPLDGLSH
ADVVNLLKNA YGRIILQVVA DTNISAIAAQ LENMSTGYHL GSPTAEHHPE DTEEQLQMTA
D*
mutated AA sequence MPENPATDKL QVLQVLDRLK MKLQEKGDTS QNEKLSMFYE TLKSPLFNQI LTLQQSIKQL
KGQLNHIPSD CSANFDFSRK GLLVFTDGSI TNGNVHRPSN NSTVSGLFPW TPKLGNEDFN
SVIQQMAQGR QIEYIDIERP STGGLGFSVV ALRSQNLGKV DIFVKDVQPG SVADRDQRLK
ENDQILAINH TPLDQNISHQ QAIALLQQTT GSLRLIVARE PVHTKSSTSS SLNDTTLPET
VCWGHVEEVE LINDGSGLGF GIVGGKTSGV VVRTIVPGGL ADRDGRLQTG DHILKIGGTN
VQGMTSEQVA QVLRNCGNSV RMLVARDPAG DISVTPPAPA ALPVALPTVA SKGPGSDSSL
FETYNVELVR KDGQSLGIRI VGYVGTSHTG EASGIYVKSI IPGSAAYHNG HIQVNDKIVA
VDGVNIQGFA NHDVVEVLRN AGQVVHLTLV RRKTSSSTSP LEPPSDRGTV VEPLKPPALF
LTGAVETETN VDGEDEEIKE RIDTLKNDNI QALEKLEKVP DSPENELKSR WENLLGPDYE
VMVATLDTQI ADDAELQKYS KLLPIHTLRL GVEVDSFDGH HYISSIVSGG PVDTLGLLQP
EDELLEVNGM QLYGKSRREA VSFLKEVPPP FTLVCCRRLF DDEASVDEPR RTETSLPETE
VDHNMDVNTE EDDDGELALW SPEVKIVELV KDCKGLGFSI LDYQDPLDPT RSVIVIRSLV
ADGVAERSGG LLPGDRLVSV NEYCLDNTSL AEAVEILKAV PPGLVHLGIC KPLVEDNEEE
SCYILHSSSN EDKTEFSGTI HDINSSLILE APKGFRDEPY FKEELVDEPF LDLGKSFHSQ
QKEIEQSKEA WEMHEFLTPR LQEMDEEREI LVDEEYELYQ DPSPSMELYP LSHIQEATPV
PSVNELHFGT QWLHDNEPSE SQEARTGRTV YSQEAQPYGY CPENVMKENF VMESLPSVPS
TEGNSQQGRF DDLENLNSLA KTSLDLGMIP NDVQGPSLLI DLPVVAQRRE QEDLPLYQHQ
ATRVISKASA YTGMLSSRYA TDTCELPERE EGEGEETPNF SHWGPPRIVE IFREPNVSLG
ISIVGGQTVI KRLKNGEELK GIFIKQVLED SPAGKTNALK TGDKILEVSG VDLQNASHSE
AVEAIKNAGN PVVFIVQSLS STPRVIPNVH NKANKITGNQ NQDTQEKKEK RQGTAPPPMK
LPPPYKALTD DSDENEEEDA FTDQKIRQRY ADLPGELHII ELEKDKNGLG LSLAGNKDRS
RMSIFVVGIN PEGPAAADGR MRIGDELLEI NNQILYGRSH QNASAIIKTA PSKVKLVFIR
NEDAVNQMAV TPFPVPSSSP SSIEDQSGTE PISSEEDGSL EVGIKQLPES ESFKLAVSQM
KQQKYPTKVS FSSQEIPLAP ASSYHSTDAD FTGYGGFQAP LSVDPATCPI VPGQEMIIEI
SKGRSGLGLS IVGGKDTPLN AIVIHEVYEE GAAARDGRLW AGDQILEVNG VDLRNSSHEE
AITALRQTPQ KVRLVVYRDE AHYRDEENLE IFPVDLQKKA GRGLGLSIVG KRNGSGVFIS
DIVKGGAADL DGRLIQGDQI LSVNGEDMRN ASQETVATIL KCAQGLVQLE IGRLRAGSWT
SARTTSQNSQ GSQQSAHSSC HPSFAPVITG LQNLVGTKRV SDPSQKNSGT DMEPRTVEIN
RELSDALGIS IAGGRGSPLG DIPVFIAMIQ ASGVAARTQK LKVGDRIVSI NGQPLDGLSH
ADVVNLLKNA YGRIILQVVA DTNISAIAAQ LENMSTGYHL GSPTAEHHPE DTEEQLQMTA
D*
speed 1.21 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