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 ENST00000400186
Genbank transcript ID N/A
UniProt peptide N/A
alteration type single base exchange
alteration region CDS
DNA changes c.7655C>T
cDNA.7940C>T
g.1942503C>T
AA changes T2552M Score: 81 explain score(s)
position(s) of altered AA
if AA alteration in CDS
2552
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      2552DGLWSNKGKPPTCKPVACPSIEAQ
mutated  not conserved    2552DGLWSNKGKPPMCKPVACPSIEA
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  2215DGLWSNKGRPPVCKSV
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 10167 / 10167
position (AA) of stopcodon in wt / mu AA sequence 3389 / 3389
position of stopcodon in wt / mu cDNA 10452 / 10452
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 286 / 286
chromosome 8
strand -1
last intron/exon boundary 10293
theoretical NMD boundary in CDS 9957
length of CDS 10167
coding sequence (CDS) position 7655
cDNA position
(for ins/del: last normal base / first normal base)
7940
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
AGSDFSRVGA NVQFSCEDNY VLQGSKSITC QRVTETLAAW SDHRPICRAR TCGSNLRGPS
GVITSPNYPV QYEDNAHCVW VITTTDPDKV IKLAFEEFEL ERGYDTLTVG DAGKVGDTRS
VLYVLTGSSV PDLIVSMSNQ MWLHLQSDDS IGSPGFKAVY QEIEKGGCGD PGIPAYGKRT
GSSFLHGDTL TFECPAAFEL VGERVITCQQ NNQWSGNKPS CVFSCFFNFT ASSGIILSPN
YPEEYGNNMN CVWLIISEPG SRIHLIFNDF DVEPQFDFLA VKDDGISDIT VLGTFSGNEV
PSQLASSGHI VRLEFQSDHS TTGRGFNITY TTFGQNECHD PGIPINGRRF GDRFLLGSSV
SFHCDDGFVK TQGSESITCI LQDGNVVWSS TVPRCEAPCG GHLTASSGVI LPPGWPGYYK
DSLHCEWIIE AKPGHSIKIT FDRFQTEVNY DTLEVRDGPA SSSPLIGEYH GTQAPQFLIS
TGNFMYLLFT TDNSRSSIGF LIHYESVTLE SDSCLDPGIP VNGHRHGGDF GIRSTVTFSC
DPGYTLSDDE PLVCERNHQW NHALPSCDAL CGGYIQGKSG TVLSPGFPDF YPNSLNCTWT
IEVSHGKGVQ MIFHTFHLES SHDYLLITED GSFSEPVARL TGSVLPHTIK AGLFGNFTAQ
LRFISDFSIS YEGFNITFSE YDLEPCDDPG VPAFSRRIGF HFGVGDSLTF SCFLGYRLEG
ATKLTCLGGG RRVWSAPLPR CVAECGASVK GNEGTLLSPN FPSNYDNNHE CIYKIETEAG
KGIHLRTRSF QLFEGDTLKV YDGKDSSSRP LGTFTKNELL GLILNSTSNH LWLEFNTNGS
DTDQGFQLTY TSFDLVKCED PGIPNYGYRI RDEGHFTDTV VLYSCNPGYA MHGSNTLTCL
SGDRRVWDKP LPSCIAECGG QIHAATSGRI LSPGYPAPYD NNLHCTWIIE ADPGKTISLH
FIVFDTEMAH DILKVWDGPV DSDILLKEWS GSALPEDIHS TFNSLTLQFD SDFFISKSGF
SIQFSTSIAA TCNDPGMPQN GTRYGDSREA GDTVTFQCDP GYQLQGQAKI TCVQLNNRFF
WQPDPPTCIA ACGGNLTGPA GVILSPNYPQ PYPPGKECDW RVKVNPDFVI ALIFKSFNME
PSYDFLHIYE GEDSNSPLIG SYQGSQAPER IESSGNSLFL AFRSDASVGL SGFAIEFKEK
PREACFDPGN IMNGTRVGTD FKLGSTITYQ CDSGYKILDP SSITCVIGAD GKPSWDQVLP
SCNAPCGGQY TGSEGVVLSP NYPHNYTAGQ ICLYSITVPK EFVVFGQFAY FQTALNDLAE
LFDGTHAQAR LLSSLSGSHS GETLPLATSN QILLRFSAKS GASARGFHFV YQAVPRTSDT
QCSSVPEPRY GRRIGSEFSA GSIVRFECNP GYLLQGSTAL HCQSVPNALA QWNDTIPSCV
VPCSGNFTQR RGTILSPGYP EPYGNNLNCI WKIIVTEGSG IQIQVISFAT EQNWDSLEIH
DGGDVTAPRL GSFSGTTVPA LLNSTSNQLY LHFQSDISVA AAGFHLEYKT VGLAACQEPA
LPSNSIKIGD RYMVNDVLSF QCEPGYTLQG RSHISCMPGT VRRWNYPSPL CIATCGGTLS
TLGGVILSPG FPGSYPNNLD CTWRISLPIG YGAHIQFLNF STEANHDFLE IQNGPYHTSP
MIGQFSGTDL PAALLSTTHE TLIHFYSDHS QNRQGFKLAY QAYELQNCPD PPPFQNGYMI
NSDYSVGQSV SFECYPGYIL IGHPVLTCQH GINRNWNYPF PRCDAPCGYN VTSQNGTIYS
PGFPDEYPIL KDCIWLITVP PGHGVYINFT LLQTEAVNDY IAVWDGPDQN SPQLGVFSGN
TALETAYSST NQVLLKFHSD FSNGGFFVLN FHAFQLKKCQ PPPAVPQAEM LTEDDDFEIG
DFVKYQCHPG YTLVGTDILT CKLSSQLQFE GSLPTCEAQC PANEVRTGSS GVILSPGYPG
NYFNSQTCSW SIKVEPNYNI TIFVDTFQSE KQFDALEVFD GSSGQSPLLV VLSGNHTEQS
NFTSRSNQLY LRWSTDHATS KKGFKIRYAA PYCSLTHPLK NGGILNRTAG AVGSKVHYFC
KPGYRMVGHS NATCRRNPLG MYQWDSLTPL CQAVSCGIPE SPGNGSFTGN EFTLDSKVVY
ECHEGFKLES SQQATAVCQE DGLWSNKGKP PTCKPVACPS IEAQLSEHVI WRLVSGSLNE
YGAQVLLSCS PGYYLEGWRL LRCQANGTWN IGDERPSCRA GHCGSPDPIV NGHISGDGFS
YRDTVVYQCN PGFRLVGTSV RICLQDHKWS GQTPVCVPIT CGHPGNPAHG FTNGSEFNLN
DVVNFTCNTG YLLQGVSRAQ CRSNGQWSSP LPTCRVVNCS DPGFVENAIR HGQQNFPESF
EYGMSILYHC KKGFYLLGSS ALTCMANGLW DRSLPKCLAI SCGHPGVPAN AVLTGELFTY
GAVVHYSCRG SESLIGNDTR VCQEDSHWSG ALPHCTGNNP GFCGDPGTPA HGSRLGDDFK
TKSLLRFSCE MGHQLRGSPE RTCLLNGSWS GLQPVCEAVL CPQPPPVQNG TVEGSDFRWG
SSISYSCMDG YQLSHSAILS CEGRGVWKGE IPQCLPVFCG DPGIPAEGRL SGKSFTYKSE
VFFQCKSPFI LVGSSRRVCQ ADGTWSGIQP TCIDPAHNTC PDPGTPHFGI QNSSRGYEVG
STVFFRCRKG YHIQGSTTRT CLANLTWSGI QTECIPHACR QPETPAHADV RAIDLPTFGY
TLVYTCHPGF FLAGGSEHRT CKADMKWTGK SPVCKSKGVR EVNETVTKTP VPSDVFFVNS
LWKGYYEYLG KRQPATLTVD WFNATSSKVN ATFSEASPVE LKLTGIYKKE EAHLLLKAFQ
IKGQADIFVS KFENDNWGLD GYVSSGLERG GFTFQGDIHG KDFGKFKLER QDPLNPDQDS
SSHYHGTSSG SVAAAILVPF FALILSGFAF YLYKHRTRPK VQYNGYAGHE NSNGQASFEN
PMYDTNLKPT EAKAVRFDTT LNTVCTVV*
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
AGSDFSRVGA NVQFSCEDNY VLQGSKSITC QRVTETLAAW SDHRPICRAR TCGSNLRGPS
GVITSPNYPV QYEDNAHCVW VITTTDPDKV IKLAFEEFEL ERGYDTLTVG DAGKVGDTRS
VLYVLTGSSV PDLIVSMSNQ MWLHLQSDDS IGSPGFKAVY QEIEKGGCGD PGIPAYGKRT
GSSFLHGDTL TFECPAAFEL VGERVITCQQ NNQWSGNKPS CVFSCFFNFT ASSGIILSPN
YPEEYGNNMN CVWLIISEPG SRIHLIFNDF DVEPQFDFLA VKDDGISDIT VLGTFSGNEV
PSQLASSGHI VRLEFQSDHS TTGRGFNITY TTFGQNECHD PGIPINGRRF GDRFLLGSSV
SFHCDDGFVK TQGSESITCI LQDGNVVWSS TVPRCEAPCG GHLTASSGVI LPPGWPGYYK
DSLHCEWIIE AKPGHSIKIT FDRFQTEVNY DTLEVRDGPA SSSPLIGEYH GTQAPQFLIS
TGNFMYLLFT TDNSRSSIGF LIHYESVTLE SDSCLDPGIP VNGHRHGGDF GIRSTVTFSC
DPGYTLSDDE PLVCERNHQW NHALPSCDAL CGGYIQGKSG TVLSPGFPDF YPNSLNCTWT
IEVSHGKGVQ MIFHTFHLES SHDYLLITED GSFSEPVARL TGSVLPHTIK AGLFGNFTAQ
LRFISDFSIS YEGFNITFSE YDLEPCDDPG VPAFSRRIGF HFGVGDSLTF SCFLGYRLEG
ATKLTCLGGG RRVWSAPLPR CVAECGASVK GNEGTLLSPN FPSNYDNNHE CIYKIETEAG
KGIHLRTRSF QLFEGDTLKV YDGKDSSSRP LGTFTKNELL GLILNSTSNH LWLEFNTNGS
DTDQGFQLTY TSFDLVKCED PGIPNYGYRI RDEGHFTDTV VLYSCNPGYA MHGSNTLTCL
SGDRRVWDKP LPSCIAECGG QIHAATSGRI LSPGYPAPYD NNLHCTWIIE ADPGKTISLH
FIVFDTEMAH DILKVWDGPV DSDILLKEWS GSALPEDIHS TFNSLTLQFD SDFFISKSGF
SIQFSTSIAA TCNDPGMPQN GTRYGDSREA GDTVTFQCDP GYQLQGQAKI TCVQLNNRFF
WQPDPPTCIA ACGGNLTGPA GVILSPNYPQ PYPPGKECDW RVKVNPDFVI ALIFKSFNME
PSYDFLHIYE GEDSNSPLIG SYQGSQAPER IESSGNSLFL AFRSDASVGL SGFAIEFKEK
PREACFDPGN IMNGTRVGTD FKLGSTITYQ CDSGYKILDP SSITCVIGAD GKPSWDQVLP
SCNAPCGGQY TGSEGVVLSP NYPHNYTAGQ ICLYSITVPK EFVVFGQFAY FQTALNDLAE
LFDGTHAQAR LLSSLSGSHS GETLPLATSN QILLRFSAKS GASARGFHFV YQAVPRTSDT
QCSSVPEPRY GRRIGSEFSA GSIVRFECNP GYLLQGSTAL HCQSVPNALA QWNDTIPSCV
VPCSGNFTQR RGTILSPGYP EPYGNNLNCI WKIIVTEGSG IQIQVISFAT EQNWDSLEIH
DGGDVTAPRL GSFSGTTVPA LLNSTSNQLY LHFQSDISVA AAGFHLEYKT VGLAACQEPA
LPSNSIKIGD RYMVNDVLSF QCEPGYTLQG RSHISCMPGT VRRWNYPSPL CIATCGGTLS
TLGGVILSPG FPGSYPNNLD CTWRISLPIG YGAHIQFLNF STEANHDFLE IQNGPYHTSP
MIGQFSGTDL PAALLSTTHE TLIHFYSDHS QNRQGFKLAY QAYELQNCPD PPPFQNGYMI
NSDYSVGQSV SFECYPGYIL IGHPVLTCQH GINRNWNYPF PRCDAPCGYN VTSQNGTIYS
PGFPDEYPIL KDCIWLITVP PGHGVYINFT LLQTEAVNDY IAVWDGPDQN SPQLGVFSGN
TALETAYSST NQVLLKFHSD FSNGGFFVLN FHAFQLKKCQ PPPAVPQAEM LTEDDDFEIG
DFVKYQCHPG YTLVGTDILT CKLSSQLQFE GSLPTCEAQC PANEVRTGSS GVILSPGYPG
NYFNSQTCSW SIKVEPNYNI TIFVDTFQSE KQFDALEVFD GSSGQSPLLV VLSGNHTEQS
NFTSRSNQLY LRWSTDHATS KKGFKIRYAA PYCSLTHPLK NGGILNRTAG AVGSKVHYFC
KPGYRMVGHS NATCRRNPLG MYQWDSLTPL CQAVSCGIPE SPGNGSFTGN EFTLDSKVVY
ECHEGFKLES SQQATAVCQE DGLWSNKGKP PMCKPVACPS IEAQLSEHVI WRLVSGSLNE
YGAQVLLSCS PGYYLEGWRL LRCQANGTWN IGDERPSCRA GHCGSPDPIV NGHISGDGFS
YRDTVVYQCN PGFRLVGTSV RICLQDHKWS GQTPVCVPIT CGHPGNPAHG FTNGSEFNLN
DVVNFTCNTG YLLQGVSRAQ CRSNGQWSSP LPTCRVVNCS DPGFVENAIR HGQQNFPESF
EYGMSILYHC KKGFYLLGSS ALTCMANGLW DRSLPKCLAI SCGHPGVPAN AVLTGELFTY
GAVVHYSCRG SESLIGNDTR VCQEDSHWSG ALPHCTGNNP GFCGDPGTPA HGSRLGDDFK
TKSLLRFSCE MGHQLRGSPE RTCLLNGSWS GLQPVCEAVL CPQPPPVQNG TVEGSDFRWG
SSISYSCMDG YQLSHSAILS CEGRGVWKGE IPQCLPVFCG DPGIPAEGRL SGKSFTYKSE
VFFQCKSPFI LVGSSRRVCQ ADGTWSGIQP TCIDPAHNTC PDPGTPHFGI QNSSRGYEVG
STVFFRCRKG YHIQGSTTRT CLANLTWSGI QTECIPHACR QPETPAHADV RAIDLPTFGY
TLVYTCHPGF FLAGGSEHRT CKADMKWTGK SPVCKSKGVR EVNETVTKTP VPSDVFFVNS
LWKGYYEYLG KRQPATLTVD WFNATSSKVN ATFSEASPVE LKLTGIYKKE EAHLLLKAFQ
IKGQADIFVS KFENDNWGLD GYVSSGLERG GFTFQGDIHG KDFGKFKLER QDPLNPDQDS
SSHYHGTSSG SVAAAILVPF FALILSGFAF YLYKHRTRPK VQYNGYAGHE NSNGQASFEN
PMYDTNLKPT EAKAVRFDTT LNTVCTVV*
speed 1.06 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