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 3 transcript(s)...
Querying Taster for transcript #1: ENST00000356443
Querying Taster for transcript #2: ENST00000261606
Querying Taster for transcript #3: ENST00000400569
MT speed 3.4 s - this script 7.415407 s

Results


genesymbolpredictionprobabilitymodelprediction
problem
splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
MYOM1polymorphism_automatic2.32282620005186e-06simple_aaeaffectedS181Psingle base exchangers1962519show file
MYOM1polymorphism_automatic2.32282620005186e-06simple_aaeaffectedS181Psingle base exchangers1962519show file
MYOM1polymorphism_automatic2.32282620005186e-06simple_aaeaffectedS181Psingle base exchangers1962519show file

Taster files

Yum, tasty mutations...

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.9999976771738 (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) chr18:3188976A>GN/A show variant in all transcripts   IGV
HGNC symbol MYOM1
Ensembl transcript ID ENST00000356443
Genbank transcript ID NM_003803
UniProt peptide P52179
alteration type single base exchange
alteration region CDS
DNA changes c.541T>C
cDNA.875T>C
g.31131T>C
AA changes S181P Score: 74 explain score(s)
position(s) of altered AA
if AA alteration in CDS
181
frameshift no
known variant Reference ID: rs1962519
databasehomozygous (G/G)heterozygousallele carriers
1000G6319581589
ExAC12602756320165
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)2.0090.908
0.0550.25
(flanking)-0.3080.049
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased31130wt: 0.68 / mu: 0.88wt: ACAACATCTAAACAG
mu: ACAACACCTAAACAG
 AACA|tcta
Donor marginally increased31133wt: 0.2607 / mu: 0.3265 (marginal change - not scored)wt: ACATCTAAACAGTCC
mu: ACACCTAAACAGTCC
 ATCT|aaac
Donor increased31131wt: 0.23 / mu: 0.47wt: CAACATCTAAACAGT
mu: CAACACCTAAACAGT
 ACAT|ctaa
distance from splice site 110
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      181NLLASEEGITTSKQSTASKQTTAS
mutated  not conserved    181PKQSTASKQTTA
Ptroglodytes  all identical  ENSPTRG00000009834  181SKQSTASKQTTA
Mmulatta  all identical  ENSMMUG00000019892  181SKQSTASKQSTA
Fcatus  not conserved  ENSFCAG00000001020  181XXXXXXXXXXXX
Mmusculus  not conserved  ENSMUSG00000024049  192TLLASEEAIA-------------
Ggallus  not conserved  ENSGALG00000014847  182VS-------------
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
182187REPEAT1.might get lost (downstream of altered splice site)
182217REGION6 X 6 AA tandem repeats.might get lost (downstream of altered splice site)
188193REPEAT2.might get lost (downstream of altered splice site)
194199REPEAT3.might get lost (downstream of altered splice site)
200205REPEAT4.might get lost (downstream of altered splice site)
206211REPEAT5.might get lost (downstream of altered splice site)
212217REPEAT6.might get lost (downstream of altered splice site)
247247CONFLICTE -> G (in Ref. 5; CAA48833).might get lost (downstream of altered splice site)
277368DOMAINIg-like C2-type 1.might get lost (downstream of altered splice site)
396498DOMAINIg-like C2-type 2.might get lost (downstream of altered splice site)
442442CONFLICTQ -> R (in Ref. 5; CAA48833).might get lost (downstream of altered splice site)
510602DOMAINFibronectin type-III 1.might get lost (downstream of altered splice site)
599599CONFLICTS -> F (in Ref. 4; AAI16184).might get lost (downstream of altered splice site)
601601CONFLICTP -> A (in Ref. 5; CAA48833).might get lost (downstream of altered splice site)
615615CONFLICTS -> G (in Ref. 4; AAI16184).might get lost (downstream of altered splice site)
616625CONFLICTRPSAPWTGQI -> PLSTLDWTV (in Ref. 5; CAA48833).might get lost (downstream of altered splice site)
638730DOMAINFibronectin type-III 2.might get lost (downstream of altered splice site)
739829DOMAINFibronectin type-III 3.might get lost (downstream of altered splice site)
776776CONFLICTS -> N (in Ref. 5; CAA48833).might get lost (downstream of altered splice site)
793794CONFLICTGS -> TH (in Ref. 5; CAA48833).might get lost (downstream of altered splice site)
9331029DOMAINFibronectin type-III 4.might get lost (downstream of altered splice site)
992992CONFLICTS -> R (in Ref. 5; CAA48833).might get lost (downstream of altered splice site)
10011001CONFLICTL -> S (in Ref. 2; BAC86128).might get lost (downstream of altered splice site)
10391133DOMAINFibronectin type-III 5.might get lost (downstream of altered splice site)
10801080CONFLICTMissing (in Ref. 5; CAA48833).might get lost (downstream of altered splice site)
11321230DOMAINIg-like C2-type 3.might get lost (downstream of altered splice site)
11411141CONFLICTT -> R (in Ref. 5; CAA48833).might get lost (downstream of altered splice site)
11451148STRANDmight get lost (downstream of altered splice site)
11541159STRANDmight get lost (downstream of altered splice site)
11601160DISULFIDBy similarity.might get lost (downstream of altered splice site)
11691173STRANDmight get lost (downstream of altered splice site)
11841189STRANDmight get lost (downstream of altered splice site)
11921199STRANDmight get lost (downstream of altered splice site)
12021204HELIXmight get lost (downstream of altered splice site)
12061215STRANDmight get lost (downstream of altered splice site)
12101210DISULFIDBy similarity.might get lost (downstream of altered splice site)
12201224STRANDmight get lost (downstream of altered splice site)
12261240HELIXmight get lost (downstream of altered splice site)
12481254STRANDmight get lost (downstream of altered splice site)
12561258HELIXmight get lost (downstream of altered splice site)
12601265STRANDmight get lost (downstream of altered splice site)
12741279STRANDmight get lost (downstream of altered splice site)
12821284STRANDmight get lost (downstream of altered splice site)
12861289STRANDmight get lost (downstream of altered splice site)
12911294STRANDmight get lost (downstream of altered splice site)
12961298TURNmight get lost (downstream of altered splice site)
13001306STRANDmight get lost (downstream of altered splice site)
13101312HELIXmight get lost (downstream of altered splice site)
13141322STRANDmight get lost (downstream of altered splice site)
13251333STRANDmight get lost (downstream of altered splice site)
13361355HELIXmight get lost (downstream of altered splice site)
13571369STRANDmight get lost (downstream of altered splice site)
13581444DOMAINIg-like C2-type 4.might get lost (downstream of altered splice site)
13701372TURNmight get lost (downstream of altered splice site)
13731382STRANDmight get lost (downstream of altered splice site)
13881393STRANDmight get lost (downstream of altered splice site)
13961398STRANDmight get lost (downstream of altered splice site)
14071415STRANDmight get lost (downstream of altered splice site)
14201422HELIXmight get lost (downstream of altered splice site)
14241432STRANDmight get lost (downstream of altered splice site)
14351443STRANDmight get lost (downstream of altered splice site)
14461460HELIXmight get lost (downstream of altered splice site)
14671470STRANDmight get lost (downstream of altered splice site)
14721483STRANDmight get lost (downstream of altered splice site)
14891494STRANDmight get lost (downstream of altered splice site)
15031510STRANDmight get lost (downstream of altered splice site)
15131520STRANDmight get lost (downstream of altered splice site)
15231525HELIXmight get lost (downstream of altered splice site)
15271534STRANDmight get lost (downstream of altered splice site)
15391546STRANDmight get lost (downstream of altered splice site)
15481570HELIXmight get lost (downstream of altered splice site)
15731577STRANDmight get lost (downstream of altered splice site)
15731662DOMAINIg-like C2-type 5.might get lost (downstream of altered splice site)
15801585STRANDmight get lost (downstream of altered splice site)
15901597STRANDmight get lost (downstream of altered splice site)
16031608STRANDmight get lost (downstream of altered splice site)
16111613STRANDmight get lost (downstream of altered splice site)
16151616CONFLICTSD -> QT (in Ref. 5; CAA48833).might get lost (downstream of altered splice site)
16171617CONFLICTD -> G (in Ref. 2; BAC86128).might get lost (downstream of altered splice site)
16171624STRANDmight get lost (downstream of altered splice site)
16251627TURNmight get lost (downstream of altered splice site)
16281635STRANDmight get lost (downstream of altered splice site)
16381640HELIXmight get lost (downstream of altered splice site)
16421650STRANDmight get lost (downstream of altered splice site)
16531664STRANDmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 5058 / 5058
position (AA) of stopcodon in wt / mu AA sequence 1686 / 1686
position of stopcodon in wt / mu cDNA 5392 / 5392
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 335 / 335
chromosome 18
strand -1
last intron/exon boundary 5099
theoretical NMD boundary in CDS 4714
length of CDS 5058
coding sequence (CDS) position 541
cDNA position
(for ins/del: last normal base / first normal base)
875
gDNA position
(for ins/del: last normal base / first normal base)
31131
chromosomal position
(for ins/del: last normal base / first normal base)
3188976
original gDNA sequence snippet GTGAGGAAGGAATCACAACATCTAAACAGTCCACGGCATCC
altered gDNA sequence snippet GTGAGGAAGGAATCACAACACCTAAACAGTCCACGGCATCC
original cDNA sequence snippet GTGAGGAAGGAATCACAACATCTAAACAGTCCACGGCATCC
altered cDNA sequence snippet GTGAGGAAGGAATCACAACACCTAAACAGTCCACGGCATCC
wildtype AA sequence MSLPFYQRCH QHYDLSYRNK DVRSTVSHYQ REKKRSAVYT QGSTAYSSRS SAAHRRESEA
FRRASASSSQ QQASQHALSS EVSRKAASAY DYGSSHGLTD SSLLLDDYSS KLSPKPKRAK
HSLLSGEEKE NLPSDYMVPI FSGRQKHVSG ITDTEEERIK EAAAYIAQRN LLASEEGITT
SKQSTASKQT TASKQSTASK QSTASKQSTA SRQSTASRQS VVSKQATSAL QQEETSEKKS
RKVVIREKAE RLSLRKTLEE TETYHAKLNE DHLLHAPEFI IKPRSHTVWE KENVKLHCSI
AGWPEPRVTW YKNQVPINVH ANPGKYIIES RYGMHTLEIN GCDFEDTAQY RASAMNVKGE
LSAYASVVVK RYKGEFDETR FHAGASTMPL SFGVTPYGYA SRFEIHFDDK FDVSFGREGE
TMSLGCRVVI TPEIKHFQPE IQWYRNGVPL SPSKWVQTLW SGERATLTFS HLNKEDEGLY
TIRVRMGEYY EQYSAYVFVR DADAEIEGAP AAPLDVKCLE ANKDYIIISW KQPAVDGGSP
ILGYFIDKCE VGTDSWSQCN DTPVKFARFP VTGLIEGRSY IFRVRAVNKM GIGFPSRVSE
PVAALDPAEK ARLKSRPSAP WTGQIIVTEE EPSEGIVPGP PTDLSVTEAT RSYVVLSWKP
PGQRGHEGIM YFVEKCEAGT ENWQRVNTEL PVKSPRFALF DLAEGKSYCF RVRCSNSAGV
GEPSEATEVT VVGDKLDIPK APGKIIPSRN TDTSVVVSWE ESKDAKELVG YYIEASVAGS
GKWEPCNNNP VKGSRFTCHG LVTGQSYIFR VRAVNAAGLS EYSQDSEAIE VKAAIGGGVS
PDVCPALSDE PGGLTASRGR VHEASPPTFQ KDALLGSKPN KPSLPSSSQN LGQTEVSKVS
ETVQEELTPP PQKAAPQGKS KSDPLKKKTD RAPPSPPCDI TCLESFRDSM VLGWKQPDKI
GGAEITGYYV NYREVIDGVP GKWREANVKA VSEEAYKISN LKENMVYQFQ VAAMNMAGLG
APSAVSECFK CEEWTIAVPG PPHSLKCSEV RKDSLVLQWK PPVHSGRTPV TGYFVDLKEA
KAKEDQWRGL NEAAIKNVYL KVRGLKEGVS YVFRVRAINQ AGVGKPSDLA GPVVAETRPG
TKEVVVNVDD DGVISLNFEC DKMTPKSEFS WSKDYVSTED SPRLEVESKG NKTKMTFKDL
GMDDLGIYSC DVTDTDGIAS SYLIDEEELK RLLALSHEHK FPTVPVKSEL AVEILEKGQV
RFWMQAEKLS GNAKVNYIFN EKEIFEGPKY KMHIDRNTGI IEMFMEKLQD EDEGTYTFQL
QDGKATNHST VVLVGDVFKK LQKEAEFQRQ EWIRKQGPHF VEYLSWEVTG ECNVLLKCKV
ANIKKETHIV WYKDEREISV DEKHDFKDGI CTLLITEFSK KDAGIYEVIL KDDRGKDKSR
LKLVDEAFKE LMMEVCKKIA LSATDLKIQS TAEGIQLYSF VTYYVEDLKV NWSHNGSAIR
YSDRVKTGVT GEQIWLQINE PTPNDKGKYV MELFDGKTGH QKTVDLSGQA YDEAYAEFQR
LKQAAIAEKN RARVLGGLPD VVTIQEGKAL NLTCNVWGDP PPEVSWLKNE KALASDDHCN
LKFEAGRTAY FTINGVSTAD SGKYGLVVKN KYGSETSDFT VSVFIPEEEA RMAALESLKG
GKKAK*
mutated AA sequence MSLPFYQRCH QHYDLSYRNK DVRSTVSHYQ REKKRSAVYT QGSTAYSSRS SAAHRRESEA
FRRASASSSQ QQASQHALSS EVSRKAASAY DYGSSHGLTD SSLLLDDYSS KLSPKPKRAK
HSLLSGEEKE NLPSDYMVPI FSGRQKHVSG ITDTEEERIK EAAAYIAQRN LLASEEGITT
PKQSTASKQT TASKQSTASK QSTASKQSTA SRQSTASRQS VVSKQATSAL QQEETSEKKS
RKVVIREKAE RLSLRKTLEE TETYHAKLNE DHLLHAPEFI IKPRSHTVWE KENVKLHCSI
AGWPEPRVTW YKNQVPINVH ANPGKYIIES RYGMHTLEIN GCDFEDTAQY RASAMNVKGE
LSAYASVVVK RYKGEFDETR FHAGASTMPL SFGVTPYGYA SRFEIHFDDK FDVSFGREGE
TMSLGCRVVI TPEIKHFQPE IQWYRNGVPL SPSKWVQTLW SGERATLTFS HLNKEDEGLY
TIRVRMGEYY EQYSAYVFVR DADAEIEGAP AAPLDVKCLE ANKDYIIISW KQPAVDGGSP
ILGYFIDKCE VGTDSWSQCN DTPVKFARFP VTGLIEGRSY IFRVRAVNKM GIGFPSRVSE
PVAALDPAEK ARLKSRPSAP WTGQIIVTEE EPSEGIVPGP PTDLSVTEAT RSYVVLSWKP
PGQRGHEGIM YFVEKCEAGT ENWQRVNTEL PVKSPRFALF DLAEGKSYCF RVRCSNSAGV
GEPSEATEVT VVGDKLDIPK APGKIIPSRN TDTSVVVSWE ESKDAKELVG YYIEASVAGS
GKWEPCNNNP VKGSRFTCHG LVTGQSYIFR VRAVNAAGLS EYSQDSEAIE VKAAIGGGVS
PDVCPALSDE PGGLTASRGR VHEASPPTFQ KDALLGSKPN KPSLPSSSQN LGQTEVSKVS
ETVQEELTPP PQKAAPQGKS KSDPLKKKTD RAPPSPPCDI TCLESFRDSM VLGWKQPDKI
GGAEITGYYV NYREVIDGVP GKWREANVKA VSEEAYKISN LKENMVYQFQ VAAMNMAGLG
APSAVSECFK CEEWTIAVPG PPHSLKCSEV RKDSLVLQWK PPVHSGRTPV TGYFVDLKEA
KAKEDQWRGL NEAAIKNVYL KVRGLKEGVS YVFRVRAINQ AGVGKPSDLA GPVVAETRPG
TKEVVVNVDD DGVISLNFEC DKMTPKSEFS WSKDYVSTED SPRLEVESKG NKTKMTFKDL
GMDDLGIYSC DVTDTDGIAS SYLIDEEELK RLLALSHEHK FPTVPVKSEL AVEILEKGQV
RFWMQAEKLS GNAKVNYIFN EKEIFEGPKY KMHIDRNTGI IEMFMEKLQD EDEGTYTFQL
QDGKATNHST VVLVGDVFKK LQKEAEFQRQ EWIRKQGPHF VEYLSWEVTG ECNVLLKCKV
ANIKKETHIV WYKDEREISV DEKHDFKDGI CTLLITEFSK KDAGIYEVIL KDDRGKDKSR
LKLVDEAFKE LMMEVCKKIA LSATDLKIQS TAEGIQLYSF VTYYVEDLKV NWSHNGSAIR
YSDRVKTGVT GEQIWLQINE PTPNDKGKYV MELFDGKTGH QKTVDLSGQA YDEAYAEFQR
LKQAAIAEKN RARVLGGLPD VVTIQEGKAL NLTCNVWGDP PPEVSWLKNE KALASDDHCN
LKFEAGRTAY FTINGVSTAD SGKYGLVVKN KYGSETSDFT VSVFIPEEEA RMAALESLKG
GKKAK*
speed 1.14 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: 0.9999976771738 (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) chr18:3188976A>GN/A show variant in all transcripts   IGV
HGNC symbol MYOM1
Ensembl transcript ID ENST00000261606
Genbank transcript ID NM_019856
UniProt peptide P52179
alteration type single base exchange
alteration region CDS
DNA changes c.541T>C
cDNA.616T>C
g.31131T>C
AA changes S181P Score: 74 explain score(s)
position(s) of altered AA
if AA alteration in CDS
181
frameshift no
known variant Reference ID: rs1962519
databasehomozygous (G/G)heterozygousallele carriers
1000G6319581589
ExAC12602756320165
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)2.0090.908
0.0550.25
(flanking)-0.3080.049
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased31130wt: 0.68 / mu: 0.88wt: ACAACATCTAAACAG
mu: ACAACACCTAAACAG
 AACA|tcta
Donor marginally increased31133wt: 0.2607 / mu: 0.3265 (marginal change - not scored)wt: ACATCTAAACAGTCC
mu: ACACCTAAACAGTCC
 ATCT|aaac
Donor increased31131wt: 0.23 / mu: 0.47wt: CAACATCTAAACAGT
mu: CAACACCTAAACAGT
 ACAT|ctaa
distance from splice site 110
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      181NLLASEEGITTSKQSTASKQTTAS
mutated  not conserved    181PKQSTASKQTTA
Ptroglodytes  all identical  ENSPTRG00000009834  181SKQSTASKQTTA
Mmulatta  all identical  ENSMMUG00000019892  181SKQSTASKQSTA
Fcatus  not conserved  ENSFCAG00000001020  181XXXXXXXXXXXX
Mmusculus  not conserved  ENSMUSG00000024049  192TLLASEEAIA-------------
Ggallus  not conserved  ENSGALG00000014847  182VS-------------
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
182187REPEAT1.might get lost (downstream of altered splice site)
182217REGION6 X 6 AA tandem repeats.might get lost (downstream of altered splice site)
188193REPEAT2.might get lost (downstream of altered splice site)
194199REPEAT3.might get lost (downstream of altered splice site)
200205REPEAT4.might get lost (downstream of altered splice site)
206211REPEAT5.might get lost (downstream of altered splice site)
212217REPEAT6.might get lost (downstream of altered splice site)
247247CONFLICTE -> G (in Ref. 5; CAA48833).might get lost (downstream of altered splice site)
277368DOMAINIg-like C2-type 1.might get lost (downstream of altered splice site)
396498DOMAINIg-like C2-type 2.might get lost (downstream of altered splice site)
442442CONFLICTQ -> R (in Ref. 5; CAA48833).might get lost (downstream of altered splice site)
510602DOMAINFibronectin type-III 1.might get lost (downstream of altered splice site)
599599CONFLICTS -> F (in Ref. 4; AAI16184).might get lost (downstream of altered splice site)
601601CONFLICTP -> A (in Ref. 5; CAA48833).might get lost (downstream of altered splice site)
615615CONFLICTS -> G (in Ref. 4; AAI16184).might get lost (downstream of altered splice site)
616625CONFLICTRPSAPWTGQI -> PLSTLDWTV (in Ref. 5; CAA48833).might get lost (downstream of altered splice site)
638730DOMAINFibronectin type-III 2.might get lost (downstream of altered splice site)
739829DOMAINFibronectin type-III 3.might get lost (downstream of altered splice site)
776776CONFLICTS -> N (in Ref. 5; CAA48833).might get lost (downstream of altered splice site)
793794CONFLICTGS -> TH (in Ref. 5; CAA48833).might get lost (downstream of altered splice site)
9331029DOMAINFibronectin type-III 4.might get lost (downstream of altered splice site)
992992CONFLICTS -> R (in Ref. 5; CAA48833).might get lost (downstream of altered splice site)
10011001CONFLICTL -> S (in Ref. 2; BAC86128).might get lost (downstream of altered splice site)
10391133DOMAINFibronectin type-III 5.might get lost (downstream of altered splice site)
10801080CONFLICTMissing (in Ref. 5; CAA48833).might get lost (downstream of altered splice site)
11321230DOMAINIg-like C2-type 3.might get lost (downstream of altered splice site)
11411141CONFLICTT -> R (in Ref. 5; CAA48833).might get lost (downstream of altered splice site)
11451148STRANDmight get lost (downstream of altered splice site)
11541159STRANDmight get lost (downstream of altered splice site)
11601160DISULFIDBy similarity.might get lost (downstream of altered splice site)
11691173STRANDmight get lost (downstream of altered splice site)
11841189STRANDmight get lost (downstream of altered splice site)
11921199STRANDmight get lost (downstream of altered splice site)
12021204HELIXmight get lost (downstream of altered splice site)
12061215STRANDmight get lost (downstream of altered splice site)
12101210DISULFIDBy similarity.might get lost (downstream of altered splice site)
12201224STRANDmight get lost (downstream of altered splice site)
12261240HELIXmight get lost (downstream of altered splice site)
12481254STRANDmight get lost (downstream of altered splice site)
12561258HELIXmight get lost (downstream of altered splice site)
12601265STRANDmight get lost (downstream of altered splice site)
12741279STRANDmight get lost (downstream of altered splice site)
12821284STRANDmight get lost (downstream of altered splice site)
12861289STRANDmight get lost (downstream of altered splice site)
12911294STRANDmight get lost (downstream of altered splice site)
12961298TURNmight get lost (downstream of altered splice site)
13001306STRANDmight get lost (downstream of altered splice site)
13101312HELIXmight get lost (downstream of altered splice site)
13141322STRANDmight get lost (downstream of altered splice site)
13251333STRANDmight get lost (downstream of altered splice site)
13361355HELIXmight get lost (downstream of altered splice site)
13571369STRANDmight get lost (downstream of altered splice site)
13581444DOMAINIg-like C2-type 4.might get lost (downstream of altered splice site)
13701372TURNmight get lost (downstream of altered splice site)
13731382STRANDmight get lost (downstream of altered splice site)
13881393STRANDmight get lost (downstream of altered splice site)
13961398STRANDmight get lost (downstream of altered splice site)
14071415STRANDmight get lost (downstream of altered splice site)
14201422HELIXmight get lost (downstream of altered splice site)
14241432STRANDmight get lost (downstream of altered splice site)
14351443STRANDmight get lost (downstream of altered splice site)
14461460HELIXmight get lost (downstream of altered splice site)
14671470STRANDmight get lost (downstream of altered splice site)
14721483STRANDmight get lost (downstream of altered splice site)
14891494STRANDmight get lost (downstream of altered splice site)
15031510STRANDmight get lost (downstream of altered splice site)
15131520STRANDmight get lost (downstream of altered splice site)
15231525HELIXmight get lost (downstream of altered splice site)
15271534STRANDmight get lost (downstream of altered splice site)
15391546STRANDmight get lost (downstream of altered splice site)
15481570HELIXmight get lost (downstream of altered splice site)
15731577STRANDmight get lost (downstream of altered splice site)
15731662DOMAINIg-like C2-type 5.might get lost (downstream of altered splice site)
15801585STRANDmight get lost (downstream of altered splice site)
15901597STRANDmight get lost (downstream of altered splice site)
16031608STRANDmight get lost (downstream of altered splice site)
16111613STRANDmight get lost (downstream of altered splice site)
16151616CONFLICTSD -> QT (in Ref. 5; CAA48833).might get lost (downstream of altered splice site)
16171617CONFLICTD -> G (in Ref. 2; BAC86128).might get lost (downstream of altered splice site)
16171624STRANDmight get lost (downstream of altered splice site)
16251627TURNmight get lost (downstream of altered splice site)
16281635STRANDmight get lost (downstream of altered splice site)
16381640HELIXmight get lost (downstream of altered splice site)
16421650STRANDmight get lost (downstream of altered splice site)
16531664STRANDmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 4770 / 4770
position (AA) of stopcodon in wt / mu AA sequence 1590 / 1590
position of stopcodon in wt / mu cDNA 4845 / 4845
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 76 / 76
chromosome 18
strand -1
last intron/exon boundary 4552
theoretical NMD boundary in CDS 4426
length of CDS 4770
coding sequence (CDS) position 541
cDNA position
(for ins/del: last normal base / first normal base)
616
gDNA position
(for ins/del: last normal base / first normal base)
31131
chromosomal position
(for ins/del: last normal base / first normal base)
3188976
original gDNA sequence snippet GTGAGGAAGGAATCACAACATCTAAACAGTCCACGGCATCC
altered gDNA sequence snippet GTGAGGAAGGAATCACAACACCTAAACAGTCCACGGCATCC
original cDNA sequence snippet GTGAGGAAGGAATCACAACATCTAAACAGTCCACGGCATCC
altered cDNA sequence snippet GTGAGGAAGGAATCACAACACCTAAACAGTCCACGGCATCC
wildtype AA sequence MSLPFYQRCH QHYDLSYRNK DVRSTVSHYQ REKKRSAVYT QGSTAYSSRS SAAHRRESEA
FRRASASSSQ QQASQHALSS EVSRKAASAY DYGSSHGLTD SSLLLDDYSS KLSPKPKRAK
HSLLSGEEKE NLPSDYMVPI FSGRQKHVSG ITDTEEERIK EAAAYIAQRN LLASEEGITT
SKQSTASKQT TASKQSTASK QSTASKQSTA SRQSTASRQS VVSKQATSAL QQEETSEKKS
RKVVIREKAE RLSLRKTLEE TETYHAKLNE DHLLHAPEFI IKPRSHTVWE KENVKLHCSI
AGWPEPRVTW YKNQVPINVH ANPGKYIIES RYGMHTLEIN GCDFEDTAQY RASAMNVKGE
LSAYASVVVK RYKGEFDETR FHAGASTMPL SFGVTPYGYA SRFEIHFDDK FDVSFGREGE
TMSLGCRVVI TPEIKHFQPE IQWYRNGVPL SPSKWVQTLW SGERATLTFS HLNKEDEGLY
TIRVRMGEYY EQYSAYVFVR DADAEIEGAP AAPLDVKCLE ANKDYIIISW KQPAVDGGSP
ILGYFIDKCE VGTDSWSQCN DTPVKFARFP VTGLIEGRSY IFRVRAVNKM GIGFPSRVSE
PVAALDPAEK ARLKSRPSAP WTGQIIVTEE EPSEGIVPGP PTDLSVTEAT RSYVVLSWKP
PGQRGHEGIM YFVEKCEAGT ENWQRVNTEL PVKSPRFALF DLAEGKSYCF RVRCSNSAGV
GEPSEATEVT VVGDKLDIPK APGKIIPSRN TDTSVVVSWE ESKDAKELVG YYIEASVAGS
GKWEPCNNNP VKGSRFTCHG LVTGQSYIFR VRAVNAAGLS EYSQDSEAIE VKAAIAPPSP
PCDITCLESF RDSMVLGWKQ PDKIGGAEIT GYYVNYREVI DGVPGKWREA NVKAVSEEAY
KISNLKENMV YQFQVAAMNM AGLGAPSAVS ECFKCEEWTI AVPGPPHSLK CSEVRKDSLV
LQWKPPVHSG RTPVTGYFVD LKEAKAKEDQ WRGLNEAAIK NVYLKVRGLK EGVSYVFRVR
AINQAGVGKP SDLAGPVVAE TRPGTKEVVV NVDDDGVISL NFECDKMTPK SEFSWSKDYV
STEDSPRLEV ESKGNKTKMT FKDLGMDDLG IYSCDVTDTD GIASSYLIDE EELKRLLALS
HEHKFPTVPV KSELAVEILE KGQVRFWMQA EKLSGNAKVN YIFNEKEIFE GPKYKMHIDR
NTGIIEMFME KLQDEDEGTY TFQLQDGKAT NHSTVVLVGD VFKKLQKEAE FQRQEWIRKQ
GPHFVEYLSW EVTGECNVLL KCKVANIKKE THIVWYKDER EISVDEKHDF KDGICTLLIT
EFSKKDAGIY EVILKDDRGK DKSRLKLVDE AFKELMMEVC KKIALSATDL KIQSTAEGIQ
LYSFVTYYVE DLKVNWSHNG SAIRYSDRVK TGVTGEQIWL QINEPTPNDK GKYVMELFDG
KTGHQKTVDL SGQAYDEAYA EFQRLKQAAI AEKNRARVLG GLPDVVTIQE GKALNLTCNV
WGDPPPEVSW LKNEKALASD DHCNLKFEAG RTAYFTINGV STADSGKYGL VVKNKYGSET
SDFTVSVFIP EEEARMAALE SLKGGKKAK*
mutated AA sequence MSLPFYQRCH QHYDLSYRNK DVRSTVSHYQ REKKRSAVYT QGSTAYSSRS SAAHRRESEA
FRRASASSSQ QQASQHALSS EVSRKAASAY DYGSSHGLTD SSLLLDDYSS KLSPKPKRAK
HSLLSGEEKE NLPSDYMVPI FSGRQKHVSG ITDTEEERIK EAAAYIAQRN LLASEEGITT
PKQSTASKQT TASKQSTASK QSTASKQSTA SRQSTASRQS VVSKQATSAL QQEETSEKKS
RKVVIREKAE RLSLRKTLEE TETYHAKLNE DHLLHAPEFI IKPRSHTVWE KENVKLHCSI
AGWPEPRVTW YKNQVPINVH ANPGKYIIES RYGMHTLEIN GCDFEDTAQY RASAMNVKGE
LSAYASVVVK RYKGEFDETR FHAGASTMPL SFGVTPYGYA SRFEIHFDDK FDVSFGREGE
TMSLGCRVVI TPEIKHFQPE IQWYRNGVPL SPSKWVQTLW SGERATLTFS HLNKEDEGLY
TIRVRMGEYY EQYSAYVFVR DADAEIEGAP AAPLDVKCLE ANKDYIIISW KQPAVDGGSP
ILGYFIDKCE VGTDSWSQCN DTPVKFARFP VTGLIEGRSY IFRVRAVNKM GIGFPSRVSE
PVAALDPAEK ARLKSRPSAP WTGQIIVTEE EPSEGIVPGP PTDLSVTEAT RSYVVLSWKP
PGQRGHEGIM YFVEKCEAGT ENWQRVNTEL PVKSPRFALF DLAEGKSYCF RVRCSNSAGV
GEPSEATEVT VVGDKLDIPK APGKIIPSRN TDTSVVVSWE ESKDAKELVG YYIEASVAGS
GKWEPCNNNP VKGSRFTCHG LVTGQSYIFR VRAVNAAGLS EYSQDSEAIE VKAAIAPPSP
PCDITCLESF RDSMVLGWKQ PDKIGGAEIT GYYVNYREVI DGVPGKWREA NVKAVSEEAY
KISNLKENMV YQFQVAAMNM AGLGAPSAVS ECFKCEEWTI AVPGPPHSLK CSEVRKDSLV
LQWKPPVHSG RTPVTGYFVD LKEAKAKEDQ WRGLNEAAIK NVYLKVRGLK EGVSYVFRVR
AINQAGVGKP SDLAGPVVAE TRPGTKEVVV NVDDDGVISL NFECDKMTPK SEFSWSKDYV
STEDSPRLEV ESKGNKTKMT FKDLGMDDLG IYSCDVTDTD GIASSYLIDE EELKRLLALS
HEHKFPTVPV KSELAVEILE KGQVRFWMQA EKLSGNAKVN YIFNEKEIFE GPKYKMHIDR
NTGIIEMFME KLQDEDEGTY TFQLQDGKAT NHSTVVLVGD VFKKLQKEAE FQRQEWIRKQ
GPHFVEYLSW EVTGECNVLL KCKVANIKKE THIVWYKDER EISVDEKHDF KDGICTLLIT
EFSKKDAGIY EVILKDDRGK DKSRLKLVDE AFKELMMEVC KKIALSATDL KIQSTAEGIQ
LYSFVTYYVE DLKVNWSHNG SAIRYSDRVK TGVTGEQIWL QINEPTPNDK GKYVMELFDG
KTGHQKTVDL SGQAYDEAYA EFQRLKQAAI AEKNRARVLG GLPDVVTIQE GKALNLTCNV
WGDPPPEVSW LKNEKALASD DHCNLKFEAG RTAYFTINGV STADSGKYGL VVKNKYGSET
SDFTVSVFIP EEEARMAALE SLKGGKKAK*
speed 1.09 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: 0.9999976771738 (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) chr18:3188976A>GN/A show variant in all transcripts   IGV
HGNC symbol MYOM1
Ensembl transcript ID ENST00000400569
Genbank transcript ID N/A
UniProt peptide P52179
alteration type single base exchange
alteration region CDS
DNA changes c.541T>C
cDNA.875T>C
g.31131T>C
AA changes S181P Score: 74 explain score(s)
position(s) of altered AA
if AA alteration in CDS
181
frameshift no
known variant Reference ID: rs1962519
databasehomozygous (G/G)heterozygousallele carriers
1000G6319581589
ExAC12602756320165
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)2.0090.908
0.0550.25
(flanking)-0.3080.049
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased31130wt: 0.68 / mu: 0.88wt: ACAACATCTAAACAG
mu: ACAACACCTAAACAG
 AACA|tcta
Donor marginally increased31133wt: 0.2607 / mu: 0.3265 (marginal change - not scored)wt: ACATCTAAACAGTCC
mu: ACACCTAAACAGTCC
 ATCT|aaac
Donor increased31131wt: 0.23 / mu: 0.47wt: CAACATCTAAACAGT
mu: CAACACCTAAACAGT
 ACAT|ctaa
distance from splice site 110
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      181NLLASEEGITTSKQSTASKQTTAS
mutated  not conserved    181PKQSTASKQTTA
Ptroglodytes  all identical  ENSPTRG00000009834  181SKQSTASKQTTA
Mmulatta  all identical  ENSMMUG00000019892  181SKQSTASKQSTA
Fcatus  not conserved  ENSFCAG00000001020  181XXXXXXXXXXXX
Mmusculus  not conserved  ENSMUSG00000024049  192TLLASEEAIA-------------
Ggallus  not conserved  ENSGALG00000014847  182VS-------------
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
182187REPEAT1.might get lost (downstream of altered splice site)
182217REGION6 X 6 AA tandem repeats.might get lost (downstream of altered splice site)
188193REPEAT2.might get lost (downstream of altered splice site)
194199REPEAT3.might get lost (downstream of altered splice site)
200205REPEAT4.might get lost (downstream of altered splice site)
206211REPEAT5.might get lost (downstream of altered splice site)
212217REPEAT6.might get lost (downstream of altered splice site)
247247CONFLICTE -> G (in Ref. 5; CAA48833).might get lost (downstream of altered splice site)
277368DOMAINIg-like C2-type 1.might get lost (downstream of altered splice site)
396498DOMAINIg-like C2-type 2.might get lost (downstream of altered splice site)
442442CONFLICTQ -> R (in Ref. 5; CAA48833).might get lost (downstream of altered splice site)
510602DOMAINFibronectin type-III 1.might get lost (downstream of altered splice site)
599599CONFLICTS -> F (in Ref. 4; AAI16184).might get lost (downstream of altered splice site)
601601CONFLICTP -> A (in Ref. 5; CAA48833).might get lost (downstream of altered splice site)
615615CONFLICTS -> G (in Ref. 4; AAI16184).might get lost (downstream of altered splice site)
616625CONFLICTRPSAPWTGQI -> PLSTLDWTV (in Ref. 5; CAA48833).might get lost (downstream of altered splice site)
638730DOMAINFibronectin type-III 2.might get lost (downstream of altered splice site)
739829DOMAINFibronectin type-III 3.might get lost (downstream of altered splice site)
776776CONFLICTS -> N (in Ref. 5; CAA48833).might get lost (downstream of altered splice site)
793794CONFLICTGS -> TH (in Ref. 5; CAA48833).might get lost (downstream of altered splice site)
9331029DOMAINFibronectin type-III 4.might get lost (downstream of altered splice site)
992992CONFLICTS -> R (in Ref. 5; CAA48833).might get lost (downstream of altered splice site)
10011001CONFLICTL -> S (in Ref. 2; BAC86128).might get lost (downstream of altered splice site)
10391133DOMAINFibronectin type-III 5.might get lost (downstream of altered splice site)
10801080CONFLICTMissing (in Ref. 5; CAA48833).might get lost (downstream of altered splice site)
11321230DOMAINIg-like C2-type 3.might get lost (downstream of altered splice site)
11411141CONFLICTT -> R (in Ref. 5; CAA48833).might get lost (downstream of altered splice site)
11451148STRANDmight get lost (downstream of altered splice site)
11541159STRANDmight get lost (downstream of altered splice site)
11601160DISULFIDBy similarity.might get lost (downstream of altered splice site)
11691173STRANDmight get lost (downstream of altered splice site)
11841189STRANDmight get lost (downstream of altered splice site)
11921199STRANDmight get lost (downstream of altered splice site)
12021204HELIXmight get lost (downstream of altered splice site)
12061215STRANDmight get lost (downstream of altered splice site)
12101210DISULFIDBy similarity.might get lost (downstream of altered splice site)
12201224STRANDmight get lost (downstream of altered splice site)
12261240HELIXmight get lost (downstream of altered splice site)
12481254STRANDmight get lost (downstream of altered splice site)
12561258HELIXmight get lost (downstream of altered splice site)
12601265STRANDmight get lost (downstream of altered splice site)
12741279STRANDmight get lost (downstream of altered splice site)
12821284STRANDmight get lost (downstream of altered splice site)
12861289STRANDmight get lost (downstream of altered splice site)
12911294STRANDmight get lost (downstream of altered splice site)
12961298TURNmight get lost (downstream of altered splice site)
13001306STRANDmight get lost (downstream of altered splice site)
13101312HELIXmight get lost (downstream of altered splice site)
13141322STRANDmight get lost (downstream of altered splice site)
13251333STRANDmight get lost (downstream of altered splice site)
13361355HELIXmight get lost (downstream of altered splice site)
13571369STRANDmight get lost (downstream of altered splice site)
13581444DOMAINIg-like C2-type 4.might get lost (downstream of altered splice site)
13701372TURNmight get lost (downstream of altered splice site)
13731382STRANDmight get lost (downstream of altered splice site)
13881393STRANDmight get lost (downstream of altered splice site)
13961398STRANDmight get lost (downstream of altered splice site)
14071415STRANDmight get lost (downstream of altered splice site)
14201422HELIXmight get lost (downstream of altered splice site)
14241432STRANDmight get lost (downstream of altered splice site)
14351443STRANDmight get lost (downstream of altered splice site)
14461460HELIXmight get lost (downstream of altered splice site)
14671470STRANDmight get lost (downstream of altered splice site)
14721483STRANDmight get lost (downstream of altered splice site)
14891494STRANDmight get lost (downstream of altered splice site)
15031510STRANDmight get lost (downstream of altered splice site)
15131520STRANDmight get lost (downstream of altered splice site)
15231525HELIXmight get lost (downstream of altered splice site)
15271534STRANDmight get lost (downstream of altered splice site)
15391546STRANDmight get lost (downstream of altered splice site)
15481570HELIXmight get lost (downstream of altered splice site)
15731577STRANDmight get lost (downstream of altered splice site)
15731662DOMAINIg-like C2-type 5.might get lost (downstream of altered splice site)
15801585STRANDmight get lost (downstream of altered splice site)
15901597STRANDmight get lost (downstream of altered splice site)
16031608STRANDmight get lost (downstream of altered splice site)
16111613STRANDmight get lost (downstream of altered splice site)
16151616CONFLICTSD -> QT (in Ref. 5; CAA48833).might get lost (downstream of altered splice site)
16171617CONFLICTD -> G (in Ref. 2; BAC86128).might get lost (downstream of altered splice site)
16171624STRANDmight get lost (downstream of altered splice site)
16251627TURNmight get lost (downstream of altered splice site)
16281635STRANDmight get lost (downstream of altered splice site)
16381640HELIXmight get lost (downstream of altered splice site)
16421650STRANDmight get lost (downstream of altered splice site)
16531664STRANDmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 5058 / 5058
position (AA) of stopcodon in wt / mu AA sequence 1686 / 1686
position of stopcodon in wt / mu cDNA 5392 / 5392
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 335 / 335
chromosome 18
strand -1
last intron/exon boundary 5099
theoretical NMD boundary in CDS 4714
length of CDS 5058
coding sequence (CDS) position 541
cDNA position
(for ins/del: last normal base / first normal base)
875
gDNA position
(for ins/del: last normal base / first normal base)
31131
chromosomal position
(for ins/del: last normal base / first normal base)
3188976
original gDNA sequence snippet GTGAGGAAGGAATCACAACATCTAAACAGTCCACGGCATCC
altered gDNA sequence snippet GTGAGGAAGGAATCACAACACCTAAACAGTCCACGGCATCC
original cDNA sequence snippet GTGAGGAAGGAATCACAACATCTAAACAGTCCACGGCATCC
altered cDNA sequence snippet GTGAGGAAGGAATCACAACACCTAAACAGTCCACGGCATCC
wildtype AA sequence MSLPFYQRCH QHYDLSYRNK DVRSTVSHYQ REKKRSAVYT QGSTAYSSRS SAAHRRESEA
FRRASASSSQ QQASQHALSS EVSRKAASAY DYGSSHGLTD SSLLLDDYSS KLSPKPKRAK
HSLLSGEEKE NLPSDYMVPI FSGRQKHVSG ITDTEEERIK EAAAYIAQRN LLASEEGITT
SKQSTASKQT TASKQSTASK QSTASKQSTA SRQSTASRQS VVSKQATSAL QQEETSEKKS
RKVVIREKAE RLSLRKTLEE TETYHAKLNE DHLLHAPEFI IKPRSHTVWE KENVKLHCSI
AGWPEPRVTW YKNQVPINVH ANPGKYIIES RYGMHTLEIN GCDFEDTAQY RASAMNVKGE
LSAYASVVVK RYKGEFDETR FHAGASTMPL SFGVTPYGYA SRFEIHFDDK FDVSFGREGE
TMSLGCRVVI TPEIKHFQPE IQWYRNGVPL SPSKWVQTLW SGERATLTFS HLNKEDEGLY
TIRVRMGEYY EQYSAYVFVR DADAEIEGAP AAPLDVKCLE ANKDYIIISW KQPAVDGGSP
ILGYFIDKCE VGTDSWSQCN DTPVKFARFP VTGLIEGRSY IFRVRAVNKM GIGFPSRVSE
PVAALDPAEK ARLKSRPSAP WTGQIIVTEE EPSEGIVPGP PTDLSVTEAT RSYVVLSWKP
PGQRGHEGIM YFVEKCEAGT ENWQRVNTEL PVKSPRFALF DLAEGKSYCF RVRCSNSAGV
GEPSEATEVT VVGDKLDIPK APGKIIPSRN TDTSVVVSWE ESKDAKELVG YYIEASVAGS
GKWEPCNNNP VKGSRFTCHG LVTGQSYIFR VRAVNAAGLS EYSQDSEAIE VKAAIGGGVS
PDVCPALSDE PGGLTASRGR VHEASPPTFQ KDALLGSKPN KPSLPSSSQN LGQTEVSKVS
ETVQEELTPP PQKAAPQGKS KSDPLKKKTD RAPPSPPCDI TCLESFRDSM VLGWKQPDKI
GGAEITGYYV NYREVIDGVP GKWREANVKA VSEEAYKISN LKENMVYQFQ VAAMNMAGLG
APSAVSECFK CEEWTIAVPG PPHSLKCSEV RKDSLVLQWK PPVHSGRTPV TGYFVDLKEA
KAKEDQWRGL NEAAIKNVYL KVRGLKEGVS YVFRVRAINQ AGVGKPSDLA GPVVAETRPG
TKEVVVNVDD DGVISLNFEC DKMTPKSEFS WSKDYVSTED SPRLEVESKG NKTKMTFKDL
GMDDLGIYSC DVTDTDGIAS SYLIDEEELK RLLALSHEHK FPTVPVKSEL AVEILEKGQV
RFWMQAEKLS GNAKVNYIFN EKEIFEGPKY KMHIDRNTGI IEMFMEKLQD EDEGTYTFQL
QDGKATNHST VVLVGDVFKK LQKEAEFQRQ EWIRKQGPHF VEYLSWEVTG ECNVLLKCKV
ANIKKETHIV WYKDEREISV DEKHDFKDGI CTLLITEFSK KDAGIYEVIL KDDRGKDKSR
LKLVDEAFKE LMMEVCKKIA LSATDLKIQS TAEGIQLYSF VTYYVEDLKV NWSHNGSAIR
YSDRVKTGVT GEQIWLQINE PTPNDKGKYV MELFDGKTGH QKTVDLSGQA YDEAYAEFQR
LKKSLLFQKD RARVLGGLPD VVTIQEGKAL NLTCNVWGDP PPEVSWLKNE KALASDDHCN
LKFEAGRTAY FTINGVSTAD SGKYGLVVKN KYGSETSDFT VSVFIPEEEA RMAALESLKG
GKKAK*
mutated AA sequence MSLPFYQRCH QHYDLSYRNK DVRSTVSHYQ REKKRSAVYT QGSTAYSSRS SAAHRRESEA
FRRASASSSQ QQASQHALSS EVSRKAASAY DYGSSHGLTD SSLLLDDYSS KLSPKPKRAK
HSLLSGEEKE NLPSDYMVPI FSGRQKHVSG ITDTEEERIK EAAAYIAQRN LLASEEGITT
PKQSTASKQT TASKQSTASK QSTASKQSTA SRQSTASRQS VVSKQATSAL QQEETSEKKS
RKVVIREKAE RLSLRKTLEE TETYHAKLNE DHLLHAPEFI IKPRSHTVWE KENVKLHCSI
AGWPEPRVTW YKNQVPINVH ANPGKYIIES RYGMHTLEIN GCDFEDTAQY RASAMNVKGE
LSAYASVVVK RYKGEFDETR FHAGASTMPL SFGVTPYGYA SRFEIHFDDK FDVSFGREGE
TMSLGCRVVI TPEIKHFQPE IQWYRNGVPL SPSKWVQTLW SGERATLTFS HLNKEDEGLY
TIRVRMGEYY EQYSAYVFVR DADAEIEGAP AAPLDVKCLE ANKDYIIISW KQPAVDGGSP
ILGYFIDKCE VGTDSWSQCN DTPVKFARFP VTGLIEGRSY IFRVRAVNKM GIGFPSRVSE
PVAALDPAEK ARLKSRPSAP WTGQIIVTEE EPSEGIVPGP PTDLSVTEAT RSYVVLSWKP
PGQRGHEGIM YFVEKCEAGT ENWQRVNTEL PVKSPRFALF DLAEGKSYCF RVRCSNSAGV
GEPSEATEVT VVGDKLDIPK APGKIIPSRN TDTSVVVSWE ESKDAKELVG YYIEASVAGS
GKWEPCNNNP VKGSRFTCHG LVTGQSYIFR VRAVNAAGLS EYSQDSEAIE VKAAIGGGVS
PDVCPALSDE PGGLTASRGR VHEASPPTFQ KDALLGSKPN KPSLPSSSQN LGQTEVSKVS
ETVQEELTPP PQKAAPQGKS KSDPLKKKTD RAPPSPPCDI TCLESFRDSM VLGWKQPDKI
GGAEITGYYV NYREVIDGVP GKWREANVKA VSEEAYKISN LKENMVYQFQ VAAMNMAGLG
APSAVSECFK CEEWTIAVPG PPHSLKCSEV RKDSLVLQWK PPVHSGRTPV TGYFVDLKEA
KAKEDQWRGL NEAAIKNVYL KVRGLKEGVS YVFRVRAINQ AGVGKPSDLA GPVVAETRPG
TKEVVVNVDD DGVISLNFEC DKMTPKSEFS WSKDYVSTED SPRLEVESKG NKTKMTFKDL
GMDDLGIYSC DVTDTDGIAS SYLIDEEELK RLLALSHEHK FPTVPVKSEL AVEILEKGQV
RFWMQAEKLS GNAKVNYIFN EKEIFEGPKY KMHIDRNTGI IEMFMEKLQD EDEGTYTFQL
QDGKATNHST VVLVGDVFKK LQKEAEFQRQ EWIRKQGPHF VEYLSWEVTG ECNVLLKCKV
ANIKKETHIV WYKDEREISV DEKHDFKDGI CTLLITEFSK KDAGIYEVIL KDDRGKDKSR
LKLVDEAFKE LMMEVCKKIA LSATDLKIQS TAEGIQLYSF VTYYVEDLKV NWSHNGSAIR
YSDRVKTGVT GEQIWLQINE PTPNDKGKYV MELFDGKTGH QKTVDLSGQA YDEAYAEFQR
LKKSLLFQKD RARVLGGLPD VVTIQEGKAL NLTCNVWGDP PPEVSWLKNE KALASDDHCN
LKFEAGRTAY FTINGVSTAD SGKYGLVVKN KYGSETSDFT VSVFIPEEEA RMAALESLKG
GKKAK*
speed 1.17 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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Problems