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 ENST00000297405
Genbank transcript ID NM_198123
UniProt peptide Q7Z407
alteration type single base exchange
alteration region CDS
DNA changes c.10861A>C
cDNA.11106A>C
g.1208241A>C
AA changes N3621H Score: 68 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 3621
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      3621GLNMSEGSNSSNQPHGTNSSSVAI
mutated  all conserved    3621GLNMSEGSNSSHQPHGTNSSSVA
Ptroglodytes  all identical  ENSPTRG00000020517  3621GLNMSEGSNSSNQPHGTNSSSVA
Mmulatta  all identical  ENSMMUG00000007342  3621GLNMSEGLNTSNQPHGTNSSSVA
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
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 11124 / 11124
position (AA) of stopcodon in wt / mu AA sequence 3708 / 3708
position of stopcodon in wt / mu cDNA 11369 / 11369
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 246 / 246
chromosome 8
strand -1
last intron/exon boundary 11210
theoretical NMD boundary in CDS 10914
length of CDS 11124
coding sequence (CDS) position 10861
cDNA position
(for ins/del: last normal base / first normal base)		 11106
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 SIAVPKEFVV
FGQFVFFQTS LHDVVEVYDG PTQQSSLLSS LSGSHSGESL PLSSGNQITI RFTSVGPITA
KGFHFVYQAV 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 SIAVPKEFVV
FGQFVFFQTS LHDVVEVYDG PTQQSSLLSS LSGSHSGESL PLSSGNQITI RFTSVGPITA
KGFHFVYQAV 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 0.70 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