Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.00695014845571925 (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) chr8:113241088T>GN/A show variant in all transcripts   IGV
HGNC symbol CSMD3
Ensembl transcript ID ENST00000352409
Genbank transcript ID N/A
UniProt peptide Q7Z407
alteration type single base exchange
alteration region CDS
DNA changes c.10651A>C
cDNA.10810A>C
g.1208241A>C
AA changes N3551H Score: 68 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 3551
frameshift no
known variant Reference ID: rs1592624
databasehomozygous (G/G)heterozygousallele carriers
1000G13568552211
ExAC23617-144679150
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)2.5761
2.5760.996
(flanking)-0.6370.749
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased1208245wt: 0.41 / mu: 0.89wt: AGGTTCAAATTCTTCAAATCAACCTCATGGTACAAATAGTA
mu: AGGTTCAAATTCTTCACATCAACCTCATGGTACAAATAGTA		 atca|ACCT
Acc marginally increased1208241wt: 0.3594 / mu: 0.4057 (marginal change - not scored)wt: CAGAAGGTTCAAATTCTTCAAATCAACCTCATGGTACAAAT
mu: CAGAAGGTTCAAATTCTTCACATCAACCTCATGGTACAAAT		 tcaa|ATCA
distance from splice site 33
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      3551GLNMSEGSNSSNQPHGTNSSSVAI
mutated  all conserved    3551LNMSEGSNSSHQPHGTNSSSVA
Ptroglodytes  all identical  ENSPTRG00000020517  3621GLNMSEGSNSSNQPHGTNSSSVA
Mmulatta  all identical  ENSMMUG00000007342  3621GLNMSEGLNTSNQPHGTNSSSV
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000022311  3621GLNTSEGSNSSNQPHGTNSSSVA
Ggallus  all identical  ENSGALG00000016111  3276GLNMSEGSNSSNQPHGTNSSSVA
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000025787  2730GINMTE-ENPANHSFGTNSSSVA
protein features
start (aa)end (aa)featuredetails 
643630TOPO_DOMExtracellular (Potential).lost
36123612CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
36183618CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
36273627CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
36313651TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
36523707TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 10914 / 10914
position (AA) of stopcodon in wt / mu AA sequence 3638 / 3638
position of stopcodon in wt / mu cDNA 11073 / 11073
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 160 / 160
chromosome 8
strand -1
last intron/exon boundary 10914
theoretical NMD boundary in CDS 10704
length of CDS 10914
coding sequence (CDS) position 10651
cDNA position
(for ins/del: last normal base / first normal base)		 10810
gDNA position
(for ins/del: last normal base / first normal base)		 1208241
chromosomal position
(for ins/del: last normal base / first normal base)		 113241088
original gDNA sequence snippet CAGAAGGTTCAAATTCTTCAAATCAACCTCATGGTACAAAT
altered gDNA sequence snippet CAGAAGGTTCAAATTCTTCACATCAACCTCATGGTACAAAT
original cDNA sequence snippet CAGAAGGTTCAAATTCTTCAAATCAACCTCATGGTACAAAT
altered cDNA sequence snippet CAGAAGGTTCAAATTCTTCACATCAACCTCATGGTACAAAT
wildtype AA sequence MKGIRKGESR AKESKPWEPG KRRCAKCGRL DFILMKKMGI KSGFTFWNLV FLLTVSCVKG
FIYTCGGTLK GLNGTIESPG FPYGYPNGAN CTWVIIAEER NRIQIVFQSF ALEEEYDYLS
LYDGHPHPTN FRTRLTGFHL PPPVTSTKSV FSLRLTSDFA VSAHGFKVYY EELQSSSCGN
PGVPPKGVLY GTRFDVGDKI RYSCVTGYIL DGHPQLTCIA NSVNTASWDF PVPICRAEDA
CGGTMRGSSG IISSPSFPNE YHNNADCTWT IVAEPGDTIS LIFTDFQMEE KYDYLEIEGS
EPPTIWLSGM NIPPPIISNK NWLRLHFVTD SNHRYRGFSA PYQGSSTLTH TTSTGELEEH
NRTTTGAIAV ASTPADVTVS SVTAVTIHRL SEEQRVQVTS LRNSGLDPNT SKDGLSPHPA
DTQSTRRRPR HAEQIERTKE LAVVTHRVKK AIDFKSRGFK LFPGKDNSNK FSILNEGGIK
TASNLCPDPG EPENGKRIGS DFSLGSTVQF SCDEDYVLQG AKSITCQRIA EVFAAWSDHR
PVCKVKTCGS NLQGPSGTFT SPNFPFQYDS NAQCVWVITA VNTNKVIQIN FEEFDLEIGY
DTLTIGDGGE VGDPRTVLQV LTGSFVPDLI VSMSSQMWLH LQTDESVGSV GFKVNYKEIE
KESCGDPGTP LYGIREGDGF SNRDVLRFEC QFGFELIGEK SIVCQENNQW SANIPICIFP
CLSNFTAPMG TVLSPDYPEG YGNNLNCIWT IISDPGSRIH LSFNDFDLES QFDFLAVKDG
DSPESPILGT FTGAEVPSHL TSNSHILRLE FQADHSMSGR GFNITYNTFG HNECPDPGIP
INARRFGDNF QLGSSISVIC EEGFIKTQGT ETITCILMDG KVMWSGLIPK CGAPCGGHFS
APSGVILSPG WPGYYKDSLN CEWVIEAEPG HSIKITFERF QTELNYDVLE VHDGPNLLSP
LLGSYNGTQV PQFLFSSSNF IYLLFTTDNS RSNNGFKIHY ESVTVNTYSC LDPGIPVHGR
RYGHDFSIGS TVSFSCDSGY RLSHEEPLLC EKNHWWSHPL PTCDALCGGD VRGPSGTILS
PGYPEFYPNS LNCTWTVDVT HGKGVQFNFH TFHLEDHHDY LLITENGSFT QPLARLTGSD
LPPTINAGLY GNFRAQLRFI SDFSISYEGF NITFSEYNLE PCEDPGIPQY GSRIGFNFGI
GDTLTFSCSS GYRLEGTSEI ICLGGGRRVW SAPLPRCVAE CGASATNNEG ILLSPNYPLN
YENNHECIYS IQVQAGKGIN ISARTFHLAQ GDVLKIYDGK DKTTHLLGAF TGASMRGLTL
SSTSNQLWLE FNSDTEGTDE GFQLVYTSFE LSHCEDPGIP QFGYKISDQG HFAGSTIIYG
CNPGYTLHGS SLLKCMTGER RAWDYPLPSC IAECGGRFKG ESSGRILSPG YPFPYDNNLR
CMWMIEVDPG NIVSLQFLAF DTEASHDILR VWDGPPENDM LLKEISGSLI PEGIHSTLNI
VTIQFDTDFY ISKSGFAIQF SSSVATACRD PGVPMNGTRN GDGREPGDTV VFQCDPGYEL
QGEERITCIQ VENRYFWQPS PPVCIAPCGG NLTGSSGFIL SPNFPHPYPH SRDCDWTITV
NADYVISLAF ISFSIEPNYD FLYIYDGPDS NSPLIGSFQD SKLPERIESS SNTMHLAFRS
DGSVSYTGFH LEYKAKLRES CFDPGNIMNG TRLGMDYKLG STVTYYCDAG YVLQGYSTLT
CIMGDDGRPG WNRALPSCHA PCGSRSTGSE GTVLSPNYPK NYSVGHNCVY SIAVPKEFAV
PRTSSTQCSS VPEPRFGRRI GNEFAVGSSV LFDCNPGYIL HGSIAIRCET VPNSLAQWND
SLPTCIVPCG GILTKRKGTI LSPGYPEPYD NNLNCVWKIT VPEGAGIQVQ VVSFATEHNW
DSLDFYDGGD NNAPRLGSYS GTTIPHLLNS TSNNLYLNFQ SDISVSAAGF HLEYTAIGLD
SCPEPQTPSS GIKIGDRYMV GDVVSFQCDQ GYSLQGHSHI TCMPGPVRRW NYPIPICLAQ
CGGAMSDFSG VILSPGFPGN YPSSLDCTWT INLPIGFGVH LQFVNFSTET IHDYLEVRSG
SSETSTVIGR LSGPQIPSSL FSTTHETSLY FHSDYSQNKQ GFHIVYQAYQ LQSCPDPRPF
RNGFVIGNDF TVGQTISFEC FPGYTLIGNS ALTCLHGVSR NWNHPLPRCE ALCGGNITAM
NGTIYSPGYP DEYPNFQDCF WLVRVPPGNG IYINFTVLQT EPIYDFITVW DGPDQNSPQI
GQFSGNTALE SVYSTSNQIL IKFHSDFTTS GFFVLSYHAY QLRVCQPPPP VPNAEILTED
DEFEIGDIIR YQCLPGFTLV GNAILTCRLG ERLQMDGAPP VCQVLCPANE LRLDSTGVIL
SPGYPDSYPN LQMCAWSISV EKGYNITMFV EFFQTEKEFD VLQVYDGPNI QSPVLISLSG
DYSSAFNITS NGHEVFLQWS ADHGNNKKGF RIRYIAFYCS TPESPPHGYI ISQTGGQLNS
VVRWACDRGF RLVGKSSAVC RKSSYGYHAW DAPVPACQAI SCGIPKAPTN GGILTTDYLV
GTRVTYFCND GYRLSSKELT TAVCQSDGTW SNHNKTPRCV VVTCPSINSF ILEHGRWRIV
NGSHYEYKTK VVFSCDPGYH GLGPASIECL PNGTWSWRNE RPYCQIISCG ELPTPPNGNK
IGTQTSYGST AIFTCDLGFM LVGSAVRECL SSGLWSESET RCLAGHCGIP ELIVNGQVIG
ENYGYRDTVV YQCNPGFRLI GSSVRICQQD HNWSGQLPSC VPVSCGHPGS PIYGRTSGNG
FNFNDVVTFS CNIGYLMQGP TKAQCQANRQ WSHPPPMCKV VNCSDPGIPA NSKRESKIEH
GNFTYGTVVF YDCNPGYFLF GSSVLICQPN GQWDKPLPEC IMIDCGHPGV PPNAVLSGEK
YTFGSTVHYS CTGKRSLLGQ SSRTCQLNGH WSGSQPHCSG DATGTCGDPG TPGHGSRQES
NFRTKSTVRY ACDTGYILHG SEERTCLANG SWTGRQPECK AVQCGNPGTT ANGKVFRIDG
TTFSSSVIYS CMEGYILSGP SVRQCTANGT WSGTLPNCTI ISCGDPGIPA NGLRYGDDYV
VGQNVSYMCQ PGYTMELNGS RIRTCTINGT WSGVMPTCRA VTCPTPPQIS NGRLEGTNFD
WGFSISYICS PGYELSFPAV LTCVGNGTWS GEVPQCLPKF CGDPGIPAQG KREGKSFIYQ
SEVSFSCNFP FILVGSSTRI CQADGTWSGS SPHCIEPTQT SCENPGVPRH GSQNNTFGFQ
VGSVVQFHCK KGHLLQGSTT RTCLPDLTWS GIQPECIPHS CKQPETPAHA NVVGMDLPSH
GYTLIYTCQP GFFLAGGTEH RVCRSDNTWT GKVPICEAGS KILVKDPRPA LGTPSPKLSV
PDDVFAQNYI WKGSYNFKGR KQPMTLTVTS FNASTGRVNA TLSNSNMELL LSGVYKSQEA
RLMLRIYLIK VPAHASVKKM KEENWAMDGF VSAEPDGATY VFQGFIQGKD YGQFGLQRLG
LNMSEGSNSS NQPHGTNSSS VAIAILVPFF ALIFAGFGFY LYKQRTAPKT QYTGCSVHEN
NNGQAAFENP MYDTNAKSVE GKAVRFDPNL NTVCTMV*
mutated AA sequence MKGIRKGESR AKESKPWEPG KRRCAKCGRL DFILMKKMGI KSGFTFWNLV FLLTVSCVKG
FIYTCGGTLK GLNGTIESPG FPYGYPNGAN CTWVIIAEER NRIQIVFQSF ALEEEYDYLS
LYDGHPHPTN FRTRLTGFHL PPPVTSTKSV FSLRLTSDFA VSAHGFKVYY EELQSSSCGN
PGVPPKGVLY GTRFDVGDKI RYSCVTGYIL DGHPQLTCIA NSVNTASWDF PVPICRAEDA
CGGTMRGSSG IISSPSFPNE YHNNADCTWT IVAEPGDTIS LIFTDFQMEE KYDYLEIEGS
EPPTIWLSGM NIPPPIISNK NWLRLHFVTD SNHRYRGFSA PYQGSSTLTH TTSTGELEEH
NRTTTGAIAV ASTPADVTVS SVTAVTIHRL SEEQRVQVTS LRNSGLDPNT SKDGLSPHPA
DTQSTRRRPR HAEQIERTKE LAVVTHRVKK AIDFKSRGFK LFPGKDNSNK FSILNEGGIK
TASNLCPDPG EPENGKRIGS DFSLGSTVQF SCDEDYVLQG AKSITCQRIA EVFAAWSDHR
PVCKVKTCGS NLQGPSGTFT SPNFPFQYDS NAQCVWVITA VNTNKVIQIN FEEFDLEIGY
DTLTIGDGGE VGDPRTVLQV LTGSFVPDLI VSMSSQMWLH LQTDESVGSV GFKVNYKEIE
KESCGDPGTP LYGIREGDGF SNRDVLRFEC QFGFELIGEK SIVCQENNQW SANIPICIFP
CLSNFTAPMG TVLSPDYPEG YGNNLNCIWT IISDPGSRIH LSFNDFDLES QFDFLAVKDG
DSPESPILGT FTGAEVPSHL TSNSHILRLE FQADHSMSGR GFNITYNTFG HNECPDPGIP
INARRFGDNF QLGSSISVIC EEGFIKTQGT ETITCILMDG KVMWSGLIPK CGAPCGGHFS
APSGVILSPG WPGYYKDSLN CEWVIEAEPG HSIKITFERF QTELNYDVLE VHDGPNLLSP
LLGSYNGTQV PQFLFSSSNF IYLLFTTDNS RSNNGFKIHY ESVTVNTYSC LDPGIPVHGR
RYGHDFSIGS TVSFSCDSGY RLSHEEPLLC EKNHWWSHPL PTCDALCGGD VRGPSGTILS
PGYPEFYPNS LNCTWTVDVT HGKGVQFNFH TFHLEDHHDY LLITENGSFT QPLARLTGSD
LPPTINAGLY GNFRAQLRFI SDFSISYEGF NITFSEYNLE PCEDPGIPQY GSRIGFNFGI
GDTLTFSCSS GYRLEGTSEI ICLGGGRRVW SAPLPRCVAE CGASATNNEG ILLSPNYPLN
YENNHECIYS IQVQAGKGIN ISARTFHLAQ GDVLKIYDGK DKTTHLLGAF TGASMRGLTL
SSTSNQLWLE FNSDTEGTDE GFQLVYTSFE LSHCEDPGIP QFGYKISDQG HFAGSTIIYG
CNPGYTLHGS SLLKCMTGER RAWDYPLPSC IAECGGRFKG ESSGRILSPG YPFPYDNNLR
CMWMIEVDPG NIVSLQFLAF DTEASHDILR VWDGPPENDM LLKEISGSLI PEGIHSTLNI
VTIQFDTDFY ISKSGFAIQF SSSVATACRD PGVPMNGTRN GDGREPGDTV VFQCDPGYEL
QGEERITCIQ VENRYFWQPS PPVCIAPCGG NLTGSSGFIL SPNFPHPYPH SRDCDWTITV
NADYVISLAF ISFSIEPNYD FLYIYDGPDS NSPLIGSFQD SKLPERIESS SNTMHLAFRS
DGSVSYTGFH LEYKAKLRES CFDPGNIMNG TRLGMDYKLG STVTYYCDAG YVLQGYSTLT
CIMGDDGRPG WNRALPSCHA PCGSRSTGSE GTVLSPNYPK NYSVGHNCVY SIAVPKEFAV
PRTSSTQCSS VPEPRFGRRI GNEFAVGSSV LFDCNPGYIL HGSIAIRCET VPNSLAQWND
SLPTCIVPCG GILTKRKGTI LSPGYPEPYD NNLNCVWKIT VPEGAGIQVQ VVSFATEHNW
DSLDFYDGGD NNAPRLGSYS GTTIPHLLNS TSNNLYLNFQ SDISVSAAGF HLEYTAIGLD
SCPEPQTPSS GIKIGDRYMV GDVVSFQCDQ GYSLQGHSHI TCMPGPVRRW NYPIPICLAQ
CGGAMSDFSG VILSPGFPGN YPSSLDCTWT INLPIGFGVH LQFVNFSTET IHDYLEVRSG
SSETSTVIGR LSGPQIPSSL FSTTHETSLY FHSDYSQNKQ GFHIVYQAYQ LQSCPDPRPF
RNGFVIGNDF TVGQTISFEC FPGYTLIGNS ALTCLHGVSR NWNHPLPRCE ALCGGNITAM
NGTIYSPGYP DEYPNFQDCF WLVRVPPGNG IYINFTVLQT EPIYDFITVW DGPDQNSPQI
GQFSGNTALE SVYSTSNQIL IKFHSDFTTS GFFVLSYHAY QLRVCQPPPP VPNAEILTED
DEFEIGDIIR YQCLPGFTLV GNAILTCRLG ERLQMDGAPP VCQVLCPANE LRLDSTGVIL
SPGYPDSYPN LQMCAWSISV EKGYNITMFV EFFQTEKEFD VLQVYDGPNI QSPVLISLSG
DYSSAFNITS NGHEVFLQWS ADHGNNKKGF RIRYIAFYCS TPESPPHGYI ISQTGGQLNS
VVRWACDRGF RLVGKSSAVC RKSSYGYHAW DAPVPACQAI SCGIPKAPTN GGILTTDYLV
GTRVTYFCND GYRLSSKELT TAVCQSDGTW SNHNKTPRCV VVTCPSINSF ILEHGRWRIV
NGSHYEYKTK VVFSCDPGYH GLGPASIECL PNGTWSWRNE RPYCQIISCG ELPTPPNGNK
IGTQTSYGST AIFTCDLGFM LVGSAVRECL SSGLWSESET RCLAGHCGIP ELIVNGQVIG
ENYGYRDTVV YQCNPGFRLI GSSVRICQQD HNWSGQLPSC VPVSCGHPGS PIYGRTSGNG
FNFNDVVTFS CNIGYLMQGP TKAQCQANRQ WSHPPPMCKV VNCSDPGIPA NSKRESKIEH
GNFTYGTVVF YDCNPGYFLF GSSVLICQPN GQWDKPLPEC IMIDCGHPGV PPNAVLSGEK
YTFGSTVHYS CTGKRSLLGQ SSRTCQLNGH WSGSQPHCSG DATGTCGDPG TPGHGSRQES
NFRTKSTVRY ACDTGYILHG SEERTCLANG SWTGRQPECK AVQCGNPGTT ANGKVFRIDG
TTFSSSVIYS CMEGYILSGP SVRQCTANGT WSGTLPNCTI ISCGDPGIPA NGLRYGDDYV
VGQNVSYMCQ PGYTMELNGS RIRTCTINGT WSGVMPTCRA VTCPTPPQIS NGRLEGTNFD
WGFSISYICS PGYELSFPAV LTCVGNGTWS GEVPQCLPKF CGDPGIPAQG KREGKSFIYQ
SEVSFSCNFP FILVGSSTRI CQADGTWSGS SPHCIEPTQT SCENPGVPRH GSQNNTFGFQ
VGSVVQFHCK KGHLLQGSTT RTCLPDLTWS GIQPECIPHS CKQPETPAHA NVVGMDLPSH
GYTLIYTCQP GFFLAGGTEH RVCRSDNTWT GKVPICEAGS KILVKDPRPA LGTPSPKLSV
PDDVFAQNYI WKGSYNFKGR KQPMTLTVTS FNASTGRVNA TLSNSNMELL LSGVYKSQEA
RLMLRIYLIK VPAHASVKKM KEENWAMDGF VSAEPDGATY VFQGFIQGKD YGQFGLQRLG
LNMSEGSNSS HQPHGTNSSS VAIAILVPFF ALIFAGFGFY LYKQRTAPKT QYTGCSVHEN
NNGQAAFENP MYDTNAKSVE GKAVRFDPNL NTVCTMV*
speed 0.73 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