Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.00419693154532728 (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 ENST00000455883
Genbank transcript ID NM_052900
UniProt peptide Q7Z407
alteration type single base exchange
alteration region CDS
DNA changes c.10354A>C
cDNA.10383A>C
g.1208241A>C
AA changes N3452H Score: 68 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 3452
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      3452GLNMSEGSNSSNQPHGTNSSSVAI
mutated  all conserved    3452GLNMSEGSNSSHQPHGTNSSSVA
Ptroglodytes  all identical  ENSPTRG00000020517  3621GLNMSEGSNSSNQPHG
Mmulatta  all identical  ENSMMUG00000007342  3621GLNMSEGLNTSNQPHGTNSSSVA
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000022311  3621GLNTSEGSNSSNQPHG
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
34093468DOMAINSushi 28.lost
34533453DISULFIDBy similarity.might get lost (downstream of altered splice site)
34663466DISULFIDBy similarity.might get lost (downstream of altered splice site)
35223522CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
35293529CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
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 10617 / 10617
position (AA) of stopcodon in wt / mu AA sequence 3539 / 3539
position of stopcodon in wt / mu cDNA 10646 / 10646
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 30 / 30
chromosome 8
strand -1
last intron/exon boundary 10487
theoretical NMD boundary in CDS 10407
length of CDS 10617
coding sequence (CDS) position 10354
cDNA position
(for ins/del: last normal base / first normal base)		 10383
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 PYQVKKAIDF KSRGFKLFPG
KDNSNKFSIL NEGGIKTASN LCPDPGEPEN GKRIGSDFSL GSTVQFSCDE DYVLQGAKSI
TCQRIAEVFA AWSDHRPVCK VKTCGSNLQG PSGTFTSPNF PFQYDSNAQC VWVITAVNTN
KVIQINFEEF DLEIGYDTLT IGDGGEVGDP RTVLQVLTGS FVPDLIVSMS SQMWLHLQTD
ESVGSVGFKV NYKEIEKESC GDPGTPLYGI REGDGFSNRD VLRFECQFGF ELIGEKSIVC
QENNQWSANI PICIFPCLSN FTAPMGTVLS PDYPEGYGNN LNCIWTIISD PGSRIHLSFN
DFDLESQFDF LAVKDGDSPE SPILGTFTGA EVPSHLTSNS HILRLEFQAD HSMSGRGFNI
TYNTFGHNEC PDPGIPINAR RFGDNFQLGS SISVICEEGF IKTQGTETIT CILMDGKVMW
SGLIPKCGAP CGGHFSAPSG VILSPGWPGY YKDSLNCEWV IEAEPGHSIK ITFERFQTEL
NYDVLEVHDG PNLLSPLLGS YNGTQVPQFL FSSSNFIYLL FTTDNSRSNN GFKIHYESVT
VNTYSCLDPG IPVHGRRYGH DFSIGSTVSF SCDSGYRLSH EEPLLCEKNH WWSHPLPTCD
ALCGGDVRGP SGTILSPGYP EFYPNSLNCT WTVDVTHGKG VQFNFHTFHL EDHHDYLLIT
ENGSFTQPLA RLTGSDLPPT INAGLYGNFR AQLRFISDFS ISYEGFNITF SEYNLEPCED
PGIPQYGSRI GFNFGIGDTL TFSCSSGYRL EGTSEIICLG GGRRVWSAPL PRCVAECGAS
ATNNEGILLS PNYPLNYENN HECIYSIQVQ AGKGINISAR TFHLAQGDVL KIYDGKDKTT
HLLGAFTGAS MRGLTLSSTS NQLWLEFNSD TEGTDEGFQL VYTSFELSHC EDPGIPQFGY
KISDQGHFAG STIIYGCNPG YTLHGSSLLK CMTGERRAWD YPLPSCIAEC GGRFKGESSG
RILSPGYPFP YDNNLRCMWM IEVDPGNIVS LQFLAFDTEA SHDILRVWDG PPENDMLLKE
ISGSLIPEGI HSTLNIVTIQ FDTDFYISKS GFAIQFSSSV ATACRDPGVP MNGTRNGDGR
EPGDTVVFQC DPGYELQGEE RITCIQVENR YFWQPSPPVC IAPCGGNLTG SSGFILSPNF
PHPYPHSRDC DWTITVNADY VISLAFISFS IEPNYDFLYI YDGPDSNSPL IGSFQDSKLP
ERIESSSNTM HLAFRSDGSV SYTGFHLEYK AKLRESCFDP GNIMNGTRLG MDYKLGSTVT
YYCDAGYVLQ GYSTLTCIMG DDGRPGWNRA LPSCHAPCGS RSTGSEGTVL SPNYPKNYSV
GHNCVYSIAV PKEFVVFGQF VFFQTSLHDV VEVYDGPTQQ SSLLSSLSGS HSGESLPLSS
GNQITIRFTS VGPITAKGFH FVYQAVPRTS STQCSSVPEP RFGRRIGNEF AVGSSVLFDC
NPGYILHGSI AIRCETVPNS LAQWNDSLPT CIVPCGGILT KRKGTILSPG YPEPYDNNLN
CVWKITVPEG AGIQVQVVSF ATEHNWDSLD FYDGGDNNAP RLGSYSGTTI PHLLNSTSNN
LYLNFQSDIS VSAAGFHLEY TAIGLDSCPE PQTPSSGIKI GDRYMVGDVV SFQCDQGYSL
QGHSHITCMP GPVRRWNYPI PICLAQCGGA MSDFSGVILS PGFPGNYPSS LDCTWTINLP
IGFGVHLQFV NFSTETIHDY LEVRSGSSET STVIGRLSGP QIPSSLFSTT HETSLYFHSD
YSQNKQGFHI VYQAYQLQSC PDPRPFRNGF VIGNDFTVGQ TISFECFPGY TLIGNSALTC
LHGVSRNWNH PLPRCEALCG GNITAMNGTI YSPGYPDEYP NFQDCFWLVR VPPGNGIYIN
FTVLQTEPIY DFITVWDGPD QNSPQIGQFS GNTALESVYS TSNQILIKFH SDFTTSGFFV
LSYHAYQLRV CQPPPPVPNA EILTEDDEFE IGDIIRYQCL PGFTLVGNAI LTCRLGERLQ
MDGAPPVCQV LCPANELRLD STGVILSPGY PDSYPNLQMC AWSISVEKGY NITMFVEFFQ
TEKEFDVLQV YDGPNIQSPV LISLSGDYSS AFNITSNGHE VFLQWSADHG NNKKGFRIRY
IAFYCSTPES PPHGYIISQT GGQLNSVVRW ACDRGFRLVG KSSAVCRKSS YGYHAWDAPV
PACQAISCGI PKAPTNGGIL TTDYLVGTRV TYFCNDGYRL SSKELTTAVC QSDGTWSNHN
KTPRCVVISC GELPTPPNGN KIGTQTSYGS TAIFTCDLGF MLVGSAVREC LSSGLWSESE
TRCLAGHCGI PELIVNGQVI GENYGYRDTV VYQCNPGFRL IGSSVRICQQ DHNWSGQLPS
CVPVSCGHPG SPIYGRTSGN GFNFNDVVTF SCNIGYLMQG PTKAQCQANR QWSHPPPMCK
VVNCSDPGIP ANSKRESKIE HGNFTYGTVV FYDCNPGYFL FGSSVLICQP NGQWDKPLPE
CIMIDCGHPG VPPNAVLSGE KYTFGSTVHY SCTGKRSLLG QSSRTCQLNG HWSGSQPHCS
GDATGTCGDP GTPGHGSRQE SNFRTKSTVR YACDTGYILH GSEERTCLAN GSWTGRQPEC
KAVQCGNPGT TANGKVFRID GTTFSSSVIY SCMEGYILSG PSVRQCTANG TWSGTLPNCT
IISCGDPGIP ANGLRYGDDY VVGQNVSYMC QPGYTMELNG SRIRTCTING TWSGVMPTCR
AVTCPTPPQI SNGRLEGTNF DWGFSISYIC SPGYELSFPA VLTCVGNGTW SGEVPQCLPK
FCGDPGIPAQ GKREGKSFIY QSEVSFSCNF PFILVGSSTR ICQADGTWSG SSPHCIEPTQ
TSCENPGVPR HGSQNNTFGF QVGSVVQFHC KKGHLLQGST TRTCLPDLTW SGIQPECIPH
SCKQPETPAH ANVVGMDLPS HGYTLIYTCQ PGFFLAGGTE HRVCRSDNTW TGKVPICEAG
SKILVKDPRP ALGTPSPKLS VPDDVFAQNY IWKGSYNFKG RKQPMTLTVT SFNASTGRVN
ATLSNSNMEL LLSGVYKSQE ARLMLRIYLI KVPAHASVKK MKEENWAMDG FVSAEPDGAT
YVFQGFIQGK DYGQFGLQRL GLNMSEGSNS SNQPHGTNSS SVAIAILVPF FALIFAGFGF
YLYKQRTAPK TQYTGCSVHE NNNGQAAFEN PMYDTNAKSV EGKAVRFDPN LNTVCTMV*
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 PYQVKKAIDF KSRGFKLFPG
KDNSNKFSIL NEGGIKTASN LCPDPGEPEN GKRIGSDFSL GSTVQFSCDE DYVLQGAKSI
TCQRIAEVFA AWSDHRPVCK VKTCGSNLQG PSGTFTSPNF PFQYDSNAQC VWVITAVNTN
KVIQINFEEF DLEIGYDTLT IGDGGEVGDP RTVLQVLTGS FVPDLIVSMS SQMWLHLQTD
ESVGSVGFKV NYKEIEKESC GDPGTPLYGI REGDGFSNRD VLRFECQFGF ELIGEKSIVC
QENNQWSANI PICIFPCLSN FTAPMGTVLS PDYPEGYGNN LNCIWTIISD PGSRIHLSFN
DFDLESQFDF LAVKDGDSPE SPILGTFTGA EVPSHLTSNS HILRLEFQAD HSMSGRGFNI
TYNTFGHNEC PDPGIPINAR RFGDNFQLGS SISVICEEGF IKTQGTETIT CILMDGKVMW
SGLIPKCGAP CGGHFSAPSG VILSPGWPGY YKDSLNCEWV IEAEPGHSIK ITFERFQTEL
NYDVLEVHDG PNLLSPLLGS YNGTQVPQFL FSSSNFIYLL FTTDNSRSNN GFKIHYESVT
VNTYSCLDPG IPVHGRRYGH DFSIGSTVSF SCDSGYRLSH EEPLLCEKNH WWSHPLPTCD
ALCGGDVRGP SGTILSPGYP EFYPNSLNCT WTVDVTHGKG VQFNFHTFHL EDHHDYLLIT
ENGSFTQPLA RLTGSDLPPT INAGLYGNFR AQLRFISDFS ISYEGFNITF SEYNLEPCED
PGIPQYGSRI GFNFGIGDTL TFSCSSGYRL EGTSEIICLG GGRRVWSAPL PRCVAECGAS
ATNNEGILLS PNYPLNYENN HECIYSIQVQ AGKGINISAR TFHLAQGDVL KIYDGKDKTT
HLLGAFTGAS MRGLTLSSTS NQLWLEFNSD TEGTDEGFQL VYTSFELSHC EDPGIPQFGY
KISDQGHFAG STIIYGCNPG YTLHGSSLLK CMTGERRAWD YPLPSCIAEC GGRFKGESSG
RILSPGYPFP YDNNLRCMWM IEVDPGNIVS LQFLAFDTEA SHDILRVWDG PPENDMLLKE
ISGSLIPEGI HSTLNIVTIQ FDTDFYISKS GFAIQFSSSV ATACRDPGVP MNGTRNGDGR
EPGDTVVFQC DPGYELQGEE RITCIQVENR YFWQPSPPVC IAPCGGNLTG SSGFILSPNF
PHPYPHSRDC DWTITVNADY VISLAFISFS IEPNYDFLYI YDGPDSNSPL IGSFQDSKLP
ERIESSSNTM HLAFRSDGSV SYTGFHLEYK AKLRESCFDP GNIMNGTRLG MDYKLGSTVT
YYCDAGYVLQ GYSTLTCIMG DDGRPGWNRA LPSCHAPCGS RSTGSEGTVL SPNYPKNYSV
GHNCVYSIAV PKEFVVFGQF VFFQTSLHDV VEVYDGPTQQ SSLLSSLSGS HSGESLPLSS
GNQITIRFTS VGPITAKGFH FVYQAVPRTS STQCSSVPEP RFGRRIGNEF AVGSSVLFDC
NPGYILHGSI AIRCETVPNS LAQWNDSLPT CIVPCGGILT KRKGTILSPG YPEPYDNNLN
CVWKITVPEG AGIQVQVVSF ATEHNWDSLD FYDGGDNNAP RLGSYSGTTI PHLLNSTSNN
LYLNFQSDIS VSAAGFHLEY TAIGLDSCPE PQTPSSGIKI GDRYMVGDVV SFQCDQGYSL
QGHSHITCMP GPVRRWNYPI PICLAQCGGA MSDFSGVILS PGFPGNYPSS LDCTWTINLP
IGFGVHLQFV NFSTETIHDY LEVRSGSSET STVIGRLSGP QIPSSLFSTT HETSLYFHSD
YSQNKQGFHI VYQAYQLQSC PDPRPFRNGF VIGNDFTVGQ TISFECFPGY TLIGNSALTC
LHGVSRNWNH PLPRCEALCG GNITAMNGTI YSPGYPDEYP NFQDCFWLVR VPPGNGIYIN
FTVLQTEPIY DFITVWDGPD QNSPQIGQFS GNTALESVYS TSNQILIKFH SDFTTSGFFV
LSYHAYQLRV CQPPPPVPNA EILTEDDEFE IGDIIRYQCL PGFTLVGNAI LTCRLGERLQ
MDGAPPVCQV LCPANELRLD STGVILSPGY PDSYPNLQMC AWSISVEKGY NITMFVEFFQ
TEKEFDVLQV YDGPNIQSPV LISLSGDYSS AFNITSNGHE VFLQWSADHG NNKKGFRIRY
IAFYCSTPES PPHGYIISQT GGQLNSVVRW ACDRGFRLVG KSSAVCRKSS YGYHAWDAPV
PACQAISCGI PKAPTNGGIL TTDYLVGTRV TYFCNDGYRL SSKELTTAVC QSDGTWSNHN
KTPRCVVISC GELPTPPNGN KIGTQTSYGS TAIFTCDLGF MLVGSAVREC LSSGLWSESE
TRCLAGHCGI PELIVNGQVI GENYGYRDTV VYQCNPGFRL IGSSVRICQQ DHNWSGQLPS
CVPVSCGHPG SPIYGRTSGN GFNFNDVVTF SCNIGYLMQG PTKAQCQANR QWSHPPPMCK
VVNCSDPGIP ANSKRESKIE HGNFTYGTVV FYDCNPGYFL FGSSVLICQP NGQWDKPLPE
CIMIDCGHPG VPPNAVLSGE KYTFGSTVHY SCTGKRSLLG QSSRTCQLNG HWSGSQPHCS
GDATGTCGDP GTPGHGSRQE SNFRTKSTVR YACDTGYILH GSEERTCLAN GSWTGRQPEC
KAVQCGNPGT TANGKVFRID GTTFSSSVIY SCMEGYILSG PSVRQCTANG TWSGTLPNCT
IISCGDPGIP ANGLRYGDDY VVGQNVSYMC QPGYTMELNG SRIRTCTING TWSGVMPTCR
AVTCPTPPQI SNGRLEGTNF DWGFSISYIC SPGYELSFPA VLTCVGNGTW SGEVPQCLPK
FCGDPGIPAQ GKREGKSFIY QSEVSFSCNF PFILVGSSTR ICQADGTWSG SSPHCIEPTQ
TSCENPGVPR HGSQNNTFGF QVGSVVQFHC KKGHLLQGST TRTCLPDLTW SGIQPECIPH
SCKQPETPAH ANVVGMDLPS HGYTLIYTCQ PGFFLAGGTE HRVCRSDNTW TGKVPICEAG
SKILVKDPRP ALGTPSPKLS VPDDVFAQNY IWKGSYNFKG RKQPMTLTVT SFNASTGRVN
ATLSNSNMEL LLSGVYKSQE ARLMLRIYLI KVPAHASVKK MKEENWAMDG FVSAEPDGAT
YVFQGFIQGK DYGQFGLQRL GLNMSEGSNS SHQPHGTNSS SVAIAILVPF FALIFAGFGF
YLYKQRTAPK TQYTGCSVHE NNNGQAAFEN PMYDTNAKSV EGKAVRFDPN LNTVCTMV*
speed 0.61 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