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 ENST00000343508
Genbank transcript ID NM_198124
UniProt peptide Q7Z407
alteration type single base exchange
alteration region CDS
DNA changes c.10741A>C
cDNA.10912A>C
g.1208241A>C
AA changes N3581H Score: 68 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 3581
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      3581GLNMSEGSNSSNQPHGTNSSSVAI
mutated  all conserved    3581GLNMSEGSNSSHQPHGTNSSSVA
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
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 11004 / 11004
position (AA) of stopcodon in wt / mu AA sequence 3668 / 3668
position of stopcodon in wt / mu cDNA 11175 / 11175
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 172 / 172
chromosome 8
strand -1
last intron/exon boundary 11016
theoretical NMD boundary in CDS 10794
length of CDS 11004
coding sequence (CDS) position 10741
cDNA position
(for ins/del: last normal base / first normal base)		 10912
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 MWSWFLCWKP VQLDRQTASG 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 MWSWFLCWKP VQLDRQTASG 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 0.55 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