Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.984035359157133 (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) chr2:160673526A>GN/A show variant in all transcripts   IGV
HGNC symbol LY75-CD302
Ensembl transcript ID ENST00000504764
Genbank transcript ID NM_001198759
UniProt peptide O60449
alteration type single base exchange
alteration region CDS
DNA changes c.4171T>C
cDNA.4199T>C
g.87696T>C
AA changes Y1391H Score: 83 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1391
frameshift no
known variant Reference ID: rs2059696
databasehomozygous (G/G)heterozygousallele carriers
1000G164702866
ExAC55242171927243
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K4me1, Histone, Histone 3 Lysine 4 Mono-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.7680.997
0.1340.993
(flanking)0.2940.994
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained876910.31mu: CAAAGAAGAACATAA AAGA|agaa
distance from splice site 18
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1391CKIEMVDYKEEYNTTLPQFMPYED
mutated  all conserved    1391KIEMVDYKEEHNTTLPQFMPYE
Ptroglodytes  all identical  ENSPTRG00000012566  1391KIEMVDYKEEYNTTLPQFMPYE
Mmulatta  all identical  ENSMMUG00000020721  1391KIEMVDYKEEYNTTLPQFMPYE
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000026980  1392CKIEMVDYEDKHNGTLPQFIPYK
Ggallus  all conserved  ENSGALG00000011153  1394CKIEREIGPQQHKPPLPEFI
Trubripes  all identical  ENSTRUG00000017160  1389SKEEYKRSSQDFQNYG
Drerio  all conserved  ENSDARG00000053113  1385CKIEN-DTKDEFLKGVVDINTPQ
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all conserved  ENSXETG00000030326  1343--DRPDHNSSQAPAMTYD
protein features
start (aa)end (aa)featuredetails 
281666TOPO_DOMExtracellular (Potential).lost
13921392CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
14011513DOMAINC-type lectin 9.might get lost (downstream of altered splice site)
14881488DISULFIDBy similarity.might get lost (downstream of altered splice site)
15021502DISULFIDBy similarity.might get lost (downstream of altered splice site)
15421661DOMAINC-type lectin 10.might get lost (downstream of altered splice site)
15931593CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
16261626CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
16351635DISULFIDBy similarity.might get lost (downstream of altered splice site)
16501650DISULFIDBy similarity.might get lost (downstream of altered splice site)
16671691TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
16921722TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
17031703MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 5622 / 5622
position (AA) of stopcodon in wt / mu AA sequence 1874 / 1874
position of stopcodon in wt / mu cDNA 5650 / 5650
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 29 / 29
chromosome 2
strand -1
last intron/exon boundary 5448
theoretical NMD boundary in CDS 5369
length of CDS 5622
coding sequence (CDS) position 4171
cDNA position
(for ins/del: last normal base / first normal base)		 4199
gDNA position
(for ins/del: last normal base / first normal base)		 87696
chromosomal position
(for ins/del: last normal base / first normal base)		 160673526
original gDNA sequence snippet TAGTTGACTACAAAGAAGAATATAATACTACACTGCCACAG
altered gDNA sequence snippet TAGTTGACTACAAAGAAGAACATAATACTACACTGCCACAG
original cDNA sequence snippet TGGTTGACTACAAAGAAGAATATAATACTACACTGCCACAG
altered cDNA sequence snippet TGGTTGACTACAAAGAAGAACATAATACTACACTGCCACAG
wildtype AA sequence MRTGWATPRR PAGLLMLLFW FFDLAEPSGR AANDPFTIVH GNTGKCIKPV YGWIVADDCD
ETEDKLWKWV SQHRLFHLHS QKCLGLDITK SVNELRMFSC DSSAMLWWKC EHHSLYGAAR
YRLALKDGHG TAISNASDVW KKGGSEESLC DQPYHEIYTR DGNSYGRPCE FPFLIDGTWH
HDCILDEDHS GPWCATTLNY EYDRKWGICL KPENGCEDNW EKNEQFGSCY QFNTQTALSW
KEAYVSCQNQ GADLLSINSA AELTYLKEKE GIAKIFWIGL NQLYSARGWE WSDHKPLNFL
NWDPDRPSAP TIGGSSCARM DAESGLWQSF SCEAQLPYVC RKPLNNTVEL TDVWTYSDTR
CDAGWLPNNG FCYLLVNESN SWDKAHAKCK AFSSDLISIH SLADVEVVVT KLHNEDIKEE
VWIGLKNINI PTLFQWSDGT EVTLTYWDEN EPNVPYNKTP NCVSYLGELG QWKVQSCEEK
LKYVCKRKGE KLNDASSDKM CPPDEGWKRH GETCYKIYED EVPFGTNCNL TITSRFEQEY
LNDLMKKYDK SLRKYFWTGL RDVDSCGEYN WATVGGRRRA VTFSNWNFLE PASPGGCVAM
STGKSVGKWE VKDCRSFKAL SICKKMSGPL GPEEASPKPD DPCPEGWQSF PASLSCYKVF
HAERIVRKRN WEEAERFCQA LGAHLSSFSH VDEIKEFLHF LTDQFSGQHW LWIGLNKRSP
DLQGSWQWSD RTPVSTIIMP NEFQQDYDIR DCAAVKVFHR PWRRGWHFYD DREFIYLRPF
ACDTKLEWVC QIPKGRTPKT PDWYNPDRAG IHGPPLIIEG SEYWFVADLH LNYEEAVLYC
ASNHSFLATI TSFVGLKAIK NKIANISGDG QKWWIRISEW PIDDHFTYSR YPWHRFPVTF
GEECLYMSAK TWLIDLGKPT DCSTKLPFIC EKYNVSSLEK YSPDSAAKVQ CSEQWIPFQN
KCFLKIKPVS LTFSQASDTC HSYGGTLPSV LSQIEQDFIT SLLPDMEATL WIGLRWTAYE
KINKWTDNRE LTYSNFHPLL VSGRLRIPEN FFEEESRYHC ALILNLQKSP FTGTWNFTSC
SERHFVSLCQ KYSEVKSRQT LQNASETVKY LNNLYKIIPK TLTWHSAKRE CLKSNMQLVS
ITDPYQQAFL SVQALLHNSS LWIGLFSQDD ELNFGWSDGK RLHFSRWAET NGQLEDCVVL
DTDGFWKTVD CNDNQPGAIC YYSGNETEKE VKPVDSVKCP SPVLNTPWIP FQNCCYNFII
TKNRHMATTQ DEVHTKCQKL NPKSHILSIR DEKENNFVLE QLLYFNYMAS WVMLGITYRN
KSLMWFDKTP LSYTHWRAGR PTIKNEKFLA GLSTDGFWDI QTFKVIEEAV YFHQHSILAC
KIEMVDYKEE YNTTLPQFMP YEDGIYSVIQ KKVTWYEALN MCSQSGGHLA SVHNQNGQLF
LEDIVKRDGF PLWVGLSSHD GSESSFEWSD GSTFDYIPWK GQTSPGNCVL LDPKGTWKHE
KCNSVKDGAI CYKPTKSKKL SRLTYSSRCP AAKENGSRWI QYKGHCYKSD QALHSFSEAK
KLCSKHDHSA TIVSIKDEDE NKFVSRLMRE NNNITMRVWL GLSQHSVDQS WSWLDGSEVT
FVKWENKSKS GVGRCSMLIA SNETWKKVEC EHGFGRVVCK VPLDCPSSTW IQFQDSCYIF
LQEAIKVESI EDVRNQCTDH GADMISIHNE EENAFILDTL KKQWKGPDDI LLGMFYDTDD
ASFKWFDNSN MTFDKWTDQD DDEDLVDTCA FLHIKTGEWK KGNCEVSSVE GTLCKTAIPY
KRKYLSDNHI LISALVIAST VILTVLGAII WFLYKKHSDS RFTTVFSTAP QSPYNEDCVL
VVGEENEYPV QFD*
mutated AA sequence MRTGWATPRR PAGLLMLLFW FFDLAEPSGR AANDPFTIVH GNTGKCIKPV YGWIVADDCD
ETEDKLWKWV SQHRLFHLHS QKCLGLDITK SVNELRMFSC DSSAMLWWKC EHHSLYGAAR
YRLALKDGHG TAISNASDVW KKGGSEESLC DQPYHEIYTR DGNSYGRPCE FPFLIDGTWH
HDCILDEDHS GPWCATTLNY EYDRKWGICL KPENGCEDNW EKNEQFGSCY QFNTQTALSW
KEAYVSCQNQ GADLLSINSA AELTYLKEKE GIAKIFWIGL NQLYSARGWE WSDHKPLNFL
NWDPDRPSAP TIGGSSCARM DAESGLWQSF SCEAQLPYVC RKPLNNTVEL TDVWTYSDTR
CDAGWLPNNG FCYLLVNESN SWDKAHAKCK AFSSDLISIH SLADVEVVVT KLHNEDIKEE
VWIGLKNINI PTLFQWSDGT EVTLTYWDEN EPNVPYNKTP NCVSYLGELG QWKVQSCEEK
LKYVCKRKGE KLNDASSDKM CPPDEGWKRH GETCYKIYED EVPFGTNCNL TITSRFEQEY
LNDLMKKYDK SLRKYFWTGL RDVDSCGEYN WATVGGRRRA VTFSNWNFLE PASPGGCVAM
STGKSVGKWE VKDCRSFKAL SICKKMSGPL GPEEASPKPD DPCPEGWQSF PASLSCYKVF
HAERIVRKRN WEEAERFCQA LGAHLSSFSH VDEIKEFLHF LTDQFSGQHW LWIGLNKRSP
DLQGSWQWSD RTPVSTIIMP NEFQQDYDIR DCAAVKVFHR PWRRGWHFYD DREFIYLRPF
ACDTKLEWVC QIPKGRTPKT PDWYNPDRAG IHGPPLIIEG SEYWFVADLH LNYEEAVLYC
ASNHSFLATI TSFVGLKAIK NKIANISGDG QKWWIRISEW PIDDHFTYSR YPWHRFPVTF
GEECLYMSAK TWLIDLGKPT DCSTKLPFIC EKYNVSSLEK YSPDSAAKVQ CSEQWIPFQN
KCFLKIKPVS LTFSQASDTC HSYGGTLPSV LSQIEQDFIT SLLPDMEATL WIGLRWTAYE
KINKWTDNRE LTYSNFHPLL VSGRLRIPEN FFEEESRYHC ALILNLQKSP FTGTWNFTSC
SERHFVSLCQ KYSEVKSRQT LQNASETVKY LNNLYKIIPK TLTWHSAKRE CLKSNMQLVS
ITDPYQQAFL SVQALLHNSS LWIGLFSQDD ELNFGWSDGK RLHFSRWAET NGQLEDCVVL
DTDGFWKTVD CNDNQPGAIC YYSGNETEKE VKPVDSVKCP SPVLNTPWIP FQNCCYNFII
TKNRHMATTQ DEVHTKCQKL NPKSHILSIR DEKENNFVLE QLLYFNYMAS WVMLGITYRN
KSLMWFDKTP LSYTHWRAGR PTIKNEKFLA GLSTDGFWDI QTFKVIEEAV YFHQHSILAC
KIEMVDYKEE HNTTLPQFMP YEDGIYSVIQ KKVTWYEALN MCSQSGGHLA SVHNQNGQLF
LEDIVKRDGF PLWVGLSSHD GSESSFEWSD GSTFDYIPWK GQTSPGNCVL LDPKGTWKHE
KCNSVKDGAI CYKPTKSKKL SRLTYSSRCP AAKENGSRWI QYKGHCYKSD QALHSFSEAK
KLCSKHDHSA TIVSIKDEDE NKFVSRLMRE NNNITMRVWL GLSQHSVDQS WSWLDGSEVT
FVKWENKSKS GVGRCSMLIA SNETWKKVEC EHGFGRVVCK VPLDCPSSTW IQFQDSCYIF
LQEAIKVESI EDVRNQCTDH GADMISIHNE EENAFILDTL KKQWKGPDDI LLGMFYDTDD
ASFKWFDNSN MTFDKWTDQD DDEDLVDTCA FLHIKTGEWK KGNCEVSSVE GTLCKTAIPY
KRKYLSDNHI LISALVIAST VILTVLGAII WFLYKKHSDS RFTTVFSTAP QSPYNEDCVL
VVGEENEYPV QFD*
speed 1.11 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