Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.996791715286797 (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) chr2:160743040T>AN/A show variant in all transcripts   IGV
HGNC symbol LY75
Ensembl transcript ID ENST00000263636
Genbank transcript ID NM_002349
UniProt peptide O60449
alteration type single base exchange
alteration region CDS
DNA changes c.804A>T
cDNA.832A>T
g.18221A>T
AA changes E268D Score: 45 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 268
frameshift no
known variant Reference ID: rs2271381
databasehomozygous (A/A)heterozygousallele carriers
1000G195789984
ExAC48472108925936
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)2.441
0.1230.973
(flanking)-0.020.97
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites alteration within used splice site, likely to disturb normal splicing
effectgDNA positionscoredetection sequence  exon-intron border
Acceptor lost18219.5sequence motif lost- wt: taca|GAAA
 mu: taca.GATA
Acc marginally increased18218wt: 0.4090 / mu: 0.4432 (marginal change - not scored)wt: AAAAATTTTTTAATTCTTACAGAAAAAGAAGGCATTGCTAA
mu: AAAAATTTTTTAATTCTTACAGATAAAGAAGGCATTGCTAA		 taca|GAAA
Acc marginally increased18213wt: 0.3701 / mu: 0.3918 (marginal change - not scored)wt: TTTTTAAAAATTTTTTAATTCTTACAGAAAAAGAAGGCATT
mu: TTTTTAAAAATTTTTTAATTCTTACAGATAAAGAAGGCATT		 attc|TTAC
Acc increased18219wt: 0.74 / mu: 0.92wt: AAAATTTTTTAATTCTTACAGAAAAAGAAGGCATTGCTAAG
mu: AAAATTTTTTAATTCTTACAGATAAAGAAGGCATTGCTAAG		 acag|AAAA
Acc marginally increased18217wt: 0.8083 / mu: 0.8627 (marginal change - not scored)wt: TAAAAATTTTTTAATTCTTACAGAAAAAGAAGGCATTGCTA
mu: TAAAAATTTTTTAATTCTTACAGATAAAGAAGGCATTGCTA		 ttac|AGAA
Acc marginally increased18215wt: 0.2331 / mu: 0.2468 (marginal change - not scored)wt: TTTAAAAATTTTTTAATTCTTACAGAAAAAGAAGGCATTGC
mu: TTTAAAAATTTTTTAATTCTTACAGATAAAGAAGGCATTGC		 tctt|ACAG
Donor marginally increased18219wt: 0.9648 / mu: 0.9693 (marginal change - not scored)wt: TTACAGAAAAAGAAG
mu: TTACAGATAAAGAAG		 ACAG|aaaa
distance from splice site 2
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      268INSAAELTYLKEKEGIAKIFWIGL
mutated  all conserved    268INSAAELTYLKDKEGIAKIFWIG
Ptroglodytes  all identical  ENSPTRG00000012566  268INSAAELTYLKEKEGIAKIFWIG
Mmulatta  all identical  ENSMMUG00000020721  268INSAAELTYLKEKEGIAKIFWIG
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000026980  268IHSAAELAYITGKEDIARLVWLG
Ggallus  not conserved  ENSGALG00000011153  267IQDASELNYIQAKDDIA
Trubripes  all conserved  ENSTRUG00000017160  269ITSLAEQSYIRDRLASIGAMVWI
Drerio  all conserved  ENSDARG00000053113  267LQFFKDRKDLPSKLWIG
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000030326  234ISTPEELQVITTTNNLPD
protein features
start (aa)end (aa)featuredetails 
281666TOPO_DOMExtracellular (Potential).lost
225341DOMAINC-type lectin 1.lost
317317DISULFIDBy similarity.might get lost (downstream of altered splice site)
332332DISULFIDBy similarity.might get lost (downstream of altered splice site)
340340DISULFIDBy similarity.might get lost (downstream of altered splice site)
345345CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
368486DOMAINC-type lectin 2.might get lost (downstream of altered splice site)
377377CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
389389DISULFIDBy similarity.might get lost (downstream of altered splice site)
462462DISULFIDBy similarity.might get lost (downstream of altered splice site)
477477DISULFIDBy similarity.might get lost (downstream of altered splice site)
485485DISULFIDBy similarity.might get lost (downstream of altered splice site)
493625DOMAINC-type lectin 3.might get lost (downstream of altered splice site)
529529CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
597597DISULFIDBy similarity.might get lost (downstream of altered splice site)
614614DISULFIDBy similarity.might get lost (downstream of altered splice site)
652778DOMAINC-type lectin 4.might get lost (downstream of altered splice site)
818931DOMAINC-type lectin 5.might get lost (downstream of altered splice site)
840840DISULFIDBy similarity.might get lost (downstream of altered splice site)
843843CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
865865CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
904904DISULFIDBy similarity.might get lost (downstream of altered splice site)
922922DISULFIDBy similarity.might get lost (downstream of altered splice site)
930930DISULFIDBy similarity.might get lost (downstream of altered splice site)
933933MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
934934CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
9581091DOMAINC-type lectin 6.might get lost (downstream of altered splice site)
10601060DISULFIDBy similarity.might get lost (downstream of altered splice site)
10761076CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
10801080DISULFIDBy similarity.might get lost (downstream of altered splice site)
11031103CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
11101222DOMAINC-type lectin 7.might get lost (downstream of altered splice site)
11971197DISULFIDBy similarity.might get lost (downstream of altered splice site)
12111211DISULFIDBy similarity.might get lost (downstream of altered splice site)
12251225CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
12511374DOMAINC-type lectin 8.might get lost (downstream of altered splice site)
13201320CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
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 5169 / 5169
position (AA) of stopcodon in wt / mu AA sequence 1723 / 1723
position of stopcodon in wt / mu cDNA 5197 / 5197
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 5019
theoretical NMD boundary in CDS 4940
length of CDS 5169
coding sequence (CDS) position 804
cDNA position
(for ins/del: last normal base / first normal base)		 832
gDNA position
(for ins/del: last normal base / first normal base)		 18221
chromosomal position
(for ins/del: last normal base / first normal base)		 160743040
original gDNA sequence snippet AATTTTTTAATTCTTACAGAAAAAGAAGGCATTGCTAAGAT
altered gDNA sequence snippet AATTTTTTAATTCTTACAGATAAAGAAGGCATTGCTAAGAT
original cDNA sequence snippet GAATTAACTTACCTTAAAGAAAAAGAAGGCATTGCTAAGAT
altered cDNA sequence snippet GAATTAACTTACCTTAAAGATAAAGAAGGCATTGCTAAGAT
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 VPLGPDYTAI AIIVATLSIL
VLMGGLIWFL FQRHRLHLAG FSSVRYAQGV NEDEIMLPSF HD*
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 AELTYLKDKE 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 VPLGPDYTAI AIIVATLSIL
VLMGGLIWFL FQRHRLHLAG FSSVRYAQGV NEDEIMLPSF HD*
speed 1.17 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