Yum, tasty mutations...

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999951488 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr8:2909992G>AN/A show variant in all transcripts   IGV
HGNC symbol CSMD1
Ensembl transcript ID ENST00000542608
Genbank transcript ID N/A
UniProt peptide N/A
alteration type single base exchange
alteration region CDS
DNA changes c.7652C>T
cDNA.7652C>T
g.1942503C>T
AA changes T2551M Score: 81 explain score(s)
position(s) of altered AA
if AA alteration in CDS
2551
frameshift no
known variant Reference ID: rs6558702
databasehomozygous (A/A)heterozygousallele carriers
1000G12379962233
ExAC16528-28916239
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-5.2710
0.5710
(flanking)-0.4910
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 9
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      2551DGLWSNKGKPPTCKPVACPSIEAQ
mutated  not conserved    2551DGLWSNKGKPPMCKPVACPSIEA
Ptroglodytes  all identical  ENSPTRG00000019945  1450GLWSNKGKPPTCKPVSCPSIEA
Mmulatta  all identical  ENSMMUG00000023475  1881DGLWSNKGKLPTCKPVPCPSIET
Fcatus  no alignment  ENSFCAG00000015539  n/a
Mmusculus  all identical  ENSMUSG00000060924  2551DGLWSNRGKPPTCKPVPCPSIEG
Ggallus  not conserved  ENSGALG00000016341  2215DGLWSNKGRPPVCKSVT
Trubripes  not conserved  ENSTRUG00000001703  2387EGAKGAMQRPPKVPKVPCSTLQ
Drerio  not conserved  ENSDARG00000058353  61DHRWS--GQAPVCVP
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000007710  2096NAGKQPVCQPITCPTIDT
protein features N/A
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 10164 / 10164
position (AA) of stopcodon in wt / mu AA sequence 3388 / 3388
position of stopcodon in wt / mu cDNA 10164 / 10164
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 1 / 1
chromosome 8
strand -1
last intron/exon boundary 10005
theoretical NMD boundary in CDS 9954
length of CDS 10164
coding sequence (CDS) position 7652
cDNA position
(for ins/del: last normal base / first normal base)
7652
gDNA position
(for ins/del: last normal base / first normal base)
1942503
chromosomal position
(for ins/del: last normal base / first normal base)
2909992
original gDNA sequence snippet TAACAAGGGGAAGCCGCCCACGTGTAAGCGTAAGTGTTCAG
altered gDNA sequence snippet TAACAAGGGGAAGCCGCCCATGTGTAAGCGTAAGTGTTCAG
original cDNA sequence snippet TAACAAGGGGAAGCCGCCCACGTGTAAGCCGGTCGCTTGCC
altered cDNA sequence snippet TAACAAGGGGAAGCCGCCCATGTGTAAGCCGGTCGCTTGCC
wildtype AA sequence MTAWRRFQSL LLLLGLLVLC ARLLTAAKGQ NCGGLVQGPN GTIESPGFPH GYPNYANCTW
IIITGERNRI QLSFHTFALE EDFDILSVYD GQPQQGNLKV RLSGFQLPSS IVSTGSILTL
WFTTDFAVSA QGFKALYEVL PSHTCGNPGE ILKGVLHGTR FNIGDKIRYS CLPGYILEGH
AILTCIVSPG NGASWDFPAP FCRAEGACGG TLRGTSSSIS SPHFPSEYEN NADCTWTILA
EPGDTIALVF TDFQLEEGYD FLEISGTEAP SIWLTGMNLP SPVISSKNWL RLHFTSDSNH
RRKGFNAQFQ VKKAIELKSR GVKMLPSKDG SHKNSVLSQG GVALVSDMCP DPGIPENGRR
AGSDFRVGAN VQFSCEDNYV LQGSKSITCQ RVTETLAAWS DHRPICRART CGSNLRGPSG
VITSPNYPVQ YEDNAHCVWV ITTTDPDKVI KLAFEEFELE RGYDTLTVGD AGKVGDTRSV
LYVLTGSSVP DLIVSMSNQM WLHLQSDDSI GSPGFKAVYQ EIEKGGCGDP GIPAYGKRTG
SSFLHGDTLT FECPAAFELV GERVITCQQN NQWSGNKPSC VFSCFFNFTA SSGIILSPNY
PEEYGNNMNC VWLIISEPGS RIHLIFNDFD VEPQFDFLAV KDDGISDITV LGTFSGNEVP
SQLASSGHIV RLEFQSDHST TGRGFNITYT TFGQNECHDP GIPINGRRFG DRFLLGSSVS
FHCDDGFVKT QGSESITCIL QDGNVVWSST VPRCEAPCGG HLTASSGVIL PPGWPGYYKD
SLHCEWIIEA KPGHSIKITF DRFQTEVNYD TLEVRDGPAS SSPLIGEYHG TQAPQFLIST
GNFMYLLFTT DNSRSSIGFL IHYESVTLES DSCLDPGIPV NGHRHGGDFG IRSTVTFSCD
PGYTLSDDEP LVCERNHQWN HALPSCDALC GGYIQGKSGT VLSPGFPDFY PNSLNCTWTI
EVSHGKGVQM IFHTFHLESS HDYLLITEDG SFSEPVARLT GSVLPHTIKA GLFGNFTAQL
RFISDFSISY EGFNITFSEY DLEPCDDPGV PAFSRRIGFH FGVGDSLTFS CFLGYRLEGA
TKLTCLGGGR RVWSAPLPRC VAECGASVKG NEGTLLSPNF PSNYDNNHEC IYKIETEAGK
GIHLRTRSFQ LFEGDTLKVY DGKDSSSRPL GTFTKNELLG LILNSTSNHL WLEFNTNGSD
TDQGFQLTYT SFDLVKCEDP GIPNYGYRIR DEGHFTDTVV LYSCNPGYAM HGSNTLTCLS
GDRRVWDKPL PSCIAECGGQ IHAATSGRIL SPGYPAPYDN NLHCTWIIEA DPGKTISLHF
IVFDTEMAHD ILKVWDGPVD SDILLKEWSG SALPEDIHST FNSLTLQFDS DFFISKSGFS
IQFSTSIAAT CNDPGMPQNG TRYGDSREAG DTVTFQCDPG YQLQGQAKIT CVQLNNRFFW
QPDPPTCIAA CGGNLTGPAG VILSPNYPQP YPPGKECDWR VKVNPDFVIA LIFKSFNMEP
SYDFLHIYEG EDSNSPLIGS YQGSQAPERI ESSGNSLFLA FRSDASVGLS GFAIEFKEKP
REACFDPGNI MNGTRVGTDF KLGSTITYQC DSGYKILDPS SITCVIGADG KPSWDQVLPS
CNAPCGGQYT GSEGVVLSPN YPHNYTAGQI CLYSITVPKE FVVFGQFAYF QTALNDLAEL
FDGTHAQARL LSSLSGSHSG ETLPLATSNQ ILLRFSAKSG ASARGFHFVY QAVPRTSDTQ
CSSVPEPRYG RRIGSEFSAG SIVRFECNPG YLLQGSTALH CQSVPNALAQ WNDTIPSCVV
PCSGNFTQRR GTILSPGYPE PYGNNLNCIW KIIVTEGSGI QIQVISFATE QNWDSLEIHD
GGDVTAPRLG SFSGTTVPAL LNSTSNQLYL HFQSDISVAA AGFHLEYKTV GLAACQEPAL
PSNSIKIGDR YMVNDVLSFQ CEPGYTLQGR SHISCMPGTV RRWNYPSPLC IATCGGTLST
LGGVILSPGF PGSYPNNLDC TWRISLPIGY GAHIQFLNFS TEANHDFLEI QNGPYHTSPM
IGQFSGTDLP AALLSTTHET LIHFYSDHSQ NRQGFKLAYQ AYELQNCPDP PPFQNGYMIN
SDYSVGQSVS FECYPGYILI GHPVLTCQHG INRNWNYPFP RCDAPCGYNV TSQNGTIYSP
GFPDEYPILK DCIWLITVPP GHGVYINFTL LQTEAVNDYI AVWDGPDQNS PQLGVFSGNT
ALETAYSSTN QVLLKFHSDF SNGGFFVLNF HAFQLKKCQP PPAVPQAEML TEDDDFEIGD
FVKYQCHPGY TLVGTDILTC KLSSQLQFEG SLPTCEAQCP ANEVRTGSSG VILSPGYPGN
YFNSQTCSWS IKVEPNYNIT IFVDTFQSEK QFDALEVFDG SSGQSPLLVV LSGNHTEQSN
FTSRSNQLYL RWSTDHATSK KGFKIRYAAP YCSLTHPLKN GGILNRTAGA VGSKVHYFCK
PGYRMVGHSN ATCRRNPLGM YQWDSLTPLC QAVSCGIPES PGNGSFTGNE FTLDSKVVYE
CHEGFKLESS QQATAVCQED GLWSNKGKPP TCKPVACPSI EAQLSEHVIW RLVSGSLNEY
GAQVLLSCSP GYYLEGWRLL RCQANGTWNI GDERPSCRAG HCGSPDPIVN GHISGDGFSY
RDTVVYQCNP GFRLVGTSVR ICLQDHKWSG QTPVCVPITC GHPGNPAHGF TNGSEFNLND
VVNFTCNTGY LLQGVSRAQC RSNGQWSSPL PTCRVVNCSD PGFVENAIRH GQQNFPESFE
YGMSILYHCK KGFYLLGSSA LTCMANGLWD RSLPKCLAIS CGHPGVPANA VLTGELFTYG
AVVHYSCRGS ESLIGNDTRV CQEDSHWSGA LPHCTGNNPG FCGDPGTPAH GSRLGDDFKT
KSLLRFSCEM GHQLRGSPER TCLLNGSWSG LQPVCEAVLC PQPPPVQNGT VEGSDFRWGS
SISYSCMDGY QLSHSAILSC EGRGVWKGEI PQCLPVFCGD PGIPAEGRLS GKSFTYKSEV
FFQCKSPFIL VGSSRRVCQA DGTWSGIQPT CIDPAHNTCP DPGTPHFGIQ NSSRGYEVGS
TVFFRCRKGY HIQGSTTRTC LANLTWSGIQ TECIPHACRQ PETPAHADVR AIDLPTFGYT
LVYTCHPGFF LAGGSEHRTC KADMKWTGKS PVCKSKGVRE VNETVTKTPV PSDVFFVNSL
WKGYYEYLGK RQPATLTVDW FNATSSKVNA TFSEASPVEL KLTGIYKKEE AHLLLKAFQI
KGQADIFVSK FENDNWGLDG YVSSGLERGG FTFQGDIHGK DFGKFKLERQ DPLNPDQDSS
SHYHGTSSGS VAAAILVPFF ALILSGFAFY LYKHRTRPKV QYNGYAGHEN SNGQASFENP
MYDTNLKPTE AKAVRFDTTL NTVCTVV*
mutated AA sequence MTAWRRFQSL LLLLGLLVLC ARLLTAAKGQ NCGGLVQGPN GTIESPGFPH GYPNYANCTW
IIITGERNRI QLSFHTFALE EDFDILSVYD GQPQQGNLKV RLSGFQLPSS IVSTGSILTL
WFTTDFAVSA QGFKALYEVL PSHTCGNPGE ILKGVLHGTR FNIGDKIRYS CLPGYILEGH
AILTCIVSPG NGASWDFPAP FCRAEGACGG TLRGTSSSIS SPHFPSEYEN NADCTWTILA
EPGDTIALVF TDFQLEEGYD FLEISGTEAP SIWLTGMNLP SPVISSKNWL RLHFTSDSNH
RRKGFNAQFQ VKKAIELKSR GVKMLPSKDG SHKNSVLSQG GVALVSDMCP DPGIPENGRR
AGSDFRVGAN VQFSCEDNYV LQGSKSITCQ RVTETLAAWS DHRPICRART CGSNLRGPSG
VITSPNYPVQ YEDNAHCVWV ITTTDPDKVI KLAFEEFELE RGYDTLTVGD AGKVGDTRSV
LYVLTGSSVP DLIVSMSNQM WLHLQSDDSI GSPGFKAVYQ EIEKGGCGDP GIPAYGKRTG
SSFLHGDTLT FECPAAFELV GERVITCQQN NQWSGNKPSC VFSCFFNFTA SSGIILSPNY
PEEYGNNMNC VWLIISEPGS RIHLIFNDFD VEPQFDFLAV KDDGISDITV LGTFSGNEVP
SQLASSGHIV RLEFQSDHST TGRGFNITYT TFGQNECHDP GIPINGRRFG DRFLLGSSVS
FHCDDGFVKT QGSESITCIL QDGNVVWSST VPRCEAPCGG HLTASSGVIL PPGWPGYYKD
SLHCEWIIEA KPGHSIKITF DRFQTEVNYD TLEVRDGPAS SSPLIGEYHG TQAPQFLIST
GNFMYLLFTT DNSRSSIGFL IHYESVTLES DSCLDPGIPV NGHRHGGDFG IRSTVTFSCD
PGYTLSDDEP LVCERNHQWN HALPSCDALC GGYIQGKSGT VLSPGFPDFY PNSLNCTWTI
EVSHGKGVQM IFHTFHLESS HDYLLITEDG SFSEPVARLT GSVLPHTIKA GLFGNFTAQL
RFISDFSISY EGFNITFSEY DLEPCDDPGV PAFSRRIGFH FGVGDSLTFS CFLGYRLEGA
TKLTCLGGGR RVWSAPLPRC VAECGASVKG NEGTLLSPNF PSNYDNNHEC IYKIETEAGK
GIHLRTRSFQ LFEGDTLKVY DGKDSSSRPL GTFTKNELLG LILNSTSNHL WLEFNTNGSD
TDQGFQLTYT SFDLVKCEDP GIPNYGYRIR DEGHFTDTVV LYSCNPGYAM HGSNTLTCLS
GDRRVWDKPL PSCIAECGGQ IHAATSGRIL SPGYPAPYDN NLHCTWIIEA DPGKTISLHF
IVFDTEMAHD ILKVWDGPVD SDILLKEWSG SALPEDIHST FNSLTLQFDS DFFISKSGFS
IQFSTSIAAT CNDPGMPQNG TRYGDSREAG DTVTFQCDPG YQLQGQAKIT CVQLNNRFFW
QPDPPTCIAA CGGNLTGPAG VILSPNYPQP YPPGKECDWR VKVNPDFVIA LIFKSFNMEP
SYDFLHIYEG EDSNSPLIGS YQGSQAPERI ESSGNSLFLA FRSDASVGLS GFAIEFKEKP
REACFDPGNI MNGTRVGTDF KLGSTITYQC DSGYKILDPS SITCVIGADG KPSWDQVLPS
CNAPCGGQYT GSEGVVLSPN YPHNYTAGQI CLYSITVPKE FVVFGQFAYF QTALNDLAEL
FDGTHAQARL LSSLSGSHSG ETLPLATSNQ ILLRFSAKSG ASARGFHFVY QAVPRTSDTQ
CSSVPEPRYG RRIGSEFSAG SIVRFECNPG YLLQGSTALH CQSVPNALAQ WNDTIPSCVV
PCSGNFTQRR GTILSPGYPE PYGNNLNCIW KIIVTEGSGI QIQVISFATE QNWDSLEIHD
GGDVTAPRLG SFSGTTVPAL LNSTSNQLYL HFQSDISVAA AGFHLEYKTV GLAACQEPAL
PSNSIKIGDR YMVNDVLSFQ CEPGYTLQGR SHISCMPGTV RRWNYPSPLC IATCGGTLST
LGGVILSPGF PGSYPNNLDC TWRISLPIGY GAHIQFLNFS TEANHDFLEI QNGPYHTSPM
IGQFSGTDLP AALLSTTHET LIHFYSDHSQ NRQGFKLAYQ AYELQNCPDP PPFQNGYMIN
SDYSVGQSVS FECYPGYILI GHPVLTCQHG INRNWNYPFP RCDAPCGYNV TSQNGTIYSP
GFPDEYPILK DCIWLITVPP GHGVYINFTL LQTEAVNDYI AVWDGPDQNS PQLGVFSGNT
ALETAYSSTN QVLLKFHSDF SNGGFFVLNF HAFQLKKCQP PPAVPQAEML TEDDDFEIGD
FVKYQCHPGY TLVGTDILTC KLSSQLQFEG SLPTCEAQCP ANEVRTGSSG VILSPGYPGN
YFNSQTCSWS IKVEPNYNIT IFVDTFQSEK QFDALEVFDG SSGQSPLLVV LSGNHTEQSN
FTSRSNQLYL RWSTDHATSK KGFKIRYAAP YCSLTHPLKN GGILNRTAGA VGSKVHYFCK
PGYRMVGHSN ATCRRNPLGM YQWDSLTPLC QAVSCGIPES PGNGSFTGNE FTLDSKVVYE
CHEGFKLESS QQATAVCQED GLWSNKGKPP MCKPVACPSI EAQLSEHVIW RLVSGSLNEY
GAQVLLSCSP GYYLEGWRLL RCQANGTWNI GDERPSCRAG HCGSPDPIVN GHISGDGFSY
RDTVVYQCNP GFRLVGTSVR ICLQDHKWSG QTPVCVPITC GHPGNPAHGF TNGSEFNLND
VVNFTCNTGY LLQGVSRAQC RSNGQWSSPL PTCRVVNCSD PGFVENAIRH GQQNFPESFE
YGMSILYHCK KGFYLLGSSA LTCMANGLWD RSLPKCLAIS CGHPGVPANA VLTGELFTYG
AVVHYSCRGS ESLIGNDTRV CQEDSHWSGA LPHCTGNNPG FCGDPGTPAH GSRLGDDFKT
KSLLRFSCEM GHQLRGSPER TCLLNGSWSG LQPVCEAVLC PQPPPVQNGT VEGSDFRWGS
SISYSCMDGY QLSHSAILSC EGRGVWKGEI PQCLPVFCGD PGIPAEGRLS GKSFTYKSEV
FFQCKSPFIL VGSSRRVCQA DGTWSGIQPT CIDPAHNTCP DPGTPHFGIQ NSSRGYEVGS
TVFFRCRKGY HIQGSTTRTC LANLTWSGIQ TECIPHACRQ PETPAHADVR AIDLPTFGYT
LVYTCHPGFF LAGGSEHRTC KADMKWTGKS PVCKSKGVRE VNETVTKTPV PSDVFFVNSL
WKGYYEYLGK RQPATLTVDW FNATSSKVNA TFSEASPVEL KLTGIYKKEE AHLLLKAFQI
KGQADIFVSK FENDNWGLDG YVSSGLERGG FTFQGDIHGK DFGKFKLERQ DPLNPDQDSS
SHYHGTSSGS VAAAILVPFF ALILSGFAFY LYKHRTRPKV QYNGYAGHEN SNGQASFENP
MYDTNLKPTE AKAVRFDTTL NTVCTVV*
speed 1.22 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