Yum, tasty mutations...

MutationTaster - study a chromosomal position

 MTQE documentation
NEVER press reload or F5 - unless you want to start from the very beginning.
input seems to be ok - now mapping the variant to the different transcripts...
found 4 transcript(s)...
Querying Taster for transcript #1: ENST00000400186
Querying Taster for transcript #2: ENST00000520002
Querying Taster for transcript #3: ENST00000537824
Querying Taster for transcript #4: ENST00000542608
MT speed 0 s - this script 5.918501 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
CSMD1polymorphism_automatic4.85119722171135e-11simple_aaeT2552Msingle base exchangers6558702show file
CSMD1polymorphism_automatic4.85119722171135e-11simple_aaeT2552Msingle base exchangers6558702show file
CSMD1polymorphism_automatic4.85119722171135e-11simple_aaeT2551Msingle base exchangers6558702show file
CSMD1polymorphism_automatic4.85119722171135e-11simple_aaeT2551Msingle base exchangers6558702show file

Taster files

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 ENST00000520002
Genbank transcript ID N/A
UniProt peptide N/A
alteration type single base exchange
alteration region CDS
DNA changes c.7655C>T
cDNA.8211C>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  116-LPVCKVVNCSDPGFVE
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 10698 / 10698
position (AA) of stopcodon in wt / mu AA sequence 3566 / 3566
position of stopcodon in wt / mu cDNA 11254 / 11254
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 557 / 557
chromosome 8
strand -1
last intron/exon boundary 11095
theoretical NMD boundary in CDS 10488
length of CDS 10698
coding sequence (CDS) position 7655
cDNA position
(for ins/del: last normal base / first normal base)		 8211
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 IGDERPSCRV ISCGSLSFPP NGNKIGTLTV
YGATAIFTCN TGYTLVGSHV RECLANGLWS GSETRCLAGH CGSPDPIVNG HISGDGFSYR
DTVVYQCNPG FRLVGTSVRI CLQDHKWSGQ TPVCVPITCG HPGNPAHGFT NGSEFNLNDV
VNFTCNTGYL LQGVSRAQCR SNGQWSSPLP TCRVVNCSDP GFVENAIRHG QQNFPESFEY
GMSILYHCKK GFYLLGSSAL TCMANGLWDR SLPKCLAISC GHPGVPANAV LTGELFTYGA
VVHYSCRGSE SLIGNDTRVC QEDSHWSGAL PHCTGNNPGF CGDPGTPAHG SRLGDDFKTK
SLLRFSCEMG HQLRGSPERT CLLNGSWSGL QPVCEAVSCG NPGTPTNGMI VSSDGILFSS
SVIYACWEGY KTSGLMTRHC TANGTWTGTA PDCTIISCGD PGTLANGIQF GTDFTFNKTV
SYQCNPGYVM EAVTSATIRC TKDGRWNPSK PVCKAVLCPQ PPPVQNGTVE GSDFRWGSSI
SYSCMDGYQL SHSAILSCEG RGVWKGEIPQ CLPVFCGDPG IPAEGRLSGK SFTYKSEVFF
QCKSPFILVG SSRRVCQADG TWSGIQPTCI DPAHNTCPDP GTPHFGIQNS SRGYEVGSTV
FFRCRKGYHI QGSTTRTCLA NLTWSGIQTE CIPHACRQPE TPAHADVRAI DLPTFGYTLV
YTCHPGFFLA GGSEHRTCKA DMKWTGKSPV CKSKGVREVN ETVTKTPVPS DVFFVNSLWK
GYYEYLGKRQ PATLTVDWFN ATSSKVNATF SEASPVELKL TGIYKKEEAH LLLKAFQIKG
QADIFVSKFE NDNWGLDGYV SSGLERGGFT FQGDIHGKDF GKFKLERQDP LNPDQDSSSH
YHGTSSGSVA AAILVPFFAL ILSGFAFYLY KHRTRPKVQY NGYAGHENSN GQASFENPMY
DTNLKPTEAK AVRFDTTLNT VCTVV*
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 IGDERPSCRV ISCGSLSFPP NGNKIGTLTV
YGATAIFTCN TGYTLVGSHV RECLANGLWS GSETRCLAGH CGSPDPIVNG HISGDGFSYR
DTVVYQCNPG FRLVGTSVRI CLQDHKWSGQ TPVCVPITCG HPGNPAHGFT NGSEFNLNDV
VNFTCNTGYL LQGVSRAQCR SNGQWSSPLP TCRVVNCSDP GFVENAIRHG QQNFPESFEY
GMSILYHCKK GFYLLGSSAL TCMANGLWDR SLPKCLAISC GHPGVPANAV LTGELFTYGA
VVHYSCRGSE SLIGNDTRVC QEDSHWSGAL PHCTGNNPGF CGDPGTPAHG SRLGDDFKTK
SLLRFSCEMG HQLRGSPERT CLLNGSWSGL QPVCEAVSCG NPGTPTNGMI VSSDGILFSS
SVIYACWEGY KTSGLMTRHC TANGTWTGTA PDCTIISCGD PGTLANGIQF GTDFTFNKTV
SYQCNPGYVM EAVTSATIRC TKDGRWNPSK PVCKAVLCPQ PPPVQNGTVE GSDFRWGSSI
SYSCMDGYQL SHSAILSCEG RGVWKGEIPQ CLPVFCGDPG IPAEGRLSGK SFTYKSEVFF
QCKSPFILVG SSRRVCQADG TWSGIQPTCI DPAHNTCPDP GTPHFGIQNS SRGYEVGSTV
FFRCRKGYHI QGSTTRTCLA NLTWSGIQTE CIPHACRQPE TPAHADVRAI DLPTFGYTLV
YTCHPGFFLA GGSEHRTCKA DMKWTGKSPV CKSKGVREVN ETVTKTPVPS DVFFVNSLWK
GYYEYLGKRQ PATLTVDWFN ATSSKVNATF SEASPVELKL TGIYKKEEAH LLLKAFQIKG
QADIFVSKFE NDNWGLDGYV SSGLERGGFT FQGDIHGKDF GKFKLERQDP LNPDQDSSSH
YHGTSSGSVA AAILVPFFAL ILSGFAFYLY KHRTRPKVQY NGYAGHENSN GQASFENPMY
DTNLKPTEAK AVRFDTTLNT VCTVV*
speed 1.51 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
back to results table
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 1.20 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
back to results table
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 ENST00000537824
Genbank transcript ID NM_033225
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  116-LPVCKVVNCSDPGFVE
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 10695 / 10695
position (AA) of stopcodon in wt / mu AA sequence 3565 / 3565
position of stopcodon in wt / mu cDNA 10695 / 10695
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 10536
theoretical NMD boundary in CDS 10485
length of CDS 10695
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 GDERPSCRVI SCGSLSFPPN GNKIGTLTVY
GATAIFTCNT GYTLVGSHVR ECLANGLWSG SETRCLAGHC GSPDPIVNGH ISGDGFSYRD
TVVYQCNPGF RLVGTSVRIC LQDHKWSGQT PVCVPITCGH PGNPAHGFTN GSEFNLNDVV
NFTCNTGYLL QGVSRAQCRS NGQWSSPLPT CRVVNCSDPG FVENAIRHGQ QNFPESFEYG
MSILYHCKKG FYLLGSSALT CMANGLWDRS LPKCLAISCG HPGVPANAVL TGELFTYGAV
VHYSCRGSES LIGNDTRVCQ EDSHWSGALP HCTGNNPGFC GDPGTPAHGS RLGDDFKTKS
LLRFSCEMGH QLRGSPERTC LLNGSWSGLQ PVCEAVSCGN PGTPTNGMIV SSDGILFSSS
VIYACWEGYK TSGLMTRHCT ANGTWTGTAP DCTIISCGDP GTLANGIQFG TDFTFNKTVS
YQCNPGYVME AVTSATIRCT KDGRWNPSKP VCKAVLCPQP PPVQNGTVEG SDFRWGSSIS
YSCMDGYQLS HSAILSCEGR GVWKGEIPQC LPVFCGDPGI PAEGRLSGKS FTYKSEVFFQ
CKSPFILVGS SRRVCQADGT WSGIQPTCID PAHNTCPDPG TPHFGIQNSS RGYEVGSTVF
FRCRKGYHIQ GSTTRTCLAN LTWSGIQTEC IPHACRQPET PAHADVRAID LPTFGYTLVY
TCHPGFFLAG GSEHRTCKAD MKWTGKSPVC KSKGVREVNE TVTKTPVPSD VFFVNSLWKG
YYEYLGKRQP ATLTVDWFNA TSSKVNATFS EASPVELKLT GIYKKEEAHL LLKAFQIKGQ
ADIFVSKFEN DNWGLDGYVS SGLERGGFTF QGDIHGKDFG KFKLERQDPL NPDQDSSSHY
HGTSSGSVAA AILVPFFALI LSGFAFYLYK HRTRPKVQYN GYAGHENSNG QASFENPMYD
TNLKPTEAKA VRFDTTLNTV CTVV*
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 GDERPSCRVI SCGSLSFPPN GNKIGTLTVY
GATAIFTCNT GYTLVGSHVR ECLANGLWSG SETRCLAGHC GSPDPIVNGH ISGDGFSYRD
TVVYQCNPGF RLVGTSVRIC LQDHKWSGQT PVCVPITCGH PGNPAHGFTN GSEFNLNDVV
NFTCNTGYLL QGVSRAQCRS NGQWSSPLPT CRVVNCSDPG FVENAIRHGQ QNFPESFEYG
MSILYHCKKG FYLLGSSALT CMANGLWDRS LPKCLAISCG HPGVPANAVL TGELFTYGAV
VHYSCRGSES LIGNDTRVCQ EDSHWSGALP HCTGNNPGFC GDPGTPAHGS RLGDDFKTKS
LLRFSCEMGH QLRGSPERTC LLNGSWSGLQ PVCEAVSCGN PGTPTNGMIV SSDGILFSSS
VIYACWEGYK TSGLMTRHCT ANGTWTGTAP DCTIISCGDP GTLANGIQFG TDFTFNKTVS
YQCNPGYVME AVTSATIRCT KDGRWNPSKP VCKAVLCPQP PPVQNGTVEG SDFRWGSSIS
YSCMDGYQLS HSAILSCEGR GVWKGEIPQC LPVFCGDPGI PAEGRLSGKS FTYKSEVFFQ
CKSPFILVGS SRRVCQADGT WSGIQPTCID PAHNTCPDPG TPHFGIQNSS RGYEVGSTVF
FRCRKGYHIQ GSTTRTCLAN LTWSGIQTEC IPHACRQPET PAHADVRAID LPTFGYTLVY
TCHPGFFLAG GSEHRTCKAD MKWTGKSPVC KSKGVREVNE TVTKTPVPSD VFFVNSLWKG
YYEYLGKRQP ATLTVDWFNA TSSKVNATFS EASPVELKLT GIYKKEEAHL LLKAFQIKGQ
ADIFVSKFEN DNWGLDGYVS SGLERGGFTF QGDIHGKDFG KFKLERQDPL NPDQDSSSHY
HGTSSGSVAA AILVPFFALI LSGFAFYLYK HRTRPKVQYN GYAGHENSNG QASFENPMYD
TNLKPTEAKA VRFDTTLNTV CTVV*
speed 1.18 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
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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 1.21 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
back to results table

Problems