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 0 s - this script 7.494177 s

Results


genesymbolpredictionprobabilitymodelprediction
problem
splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
MYOM1polymorphism_automatic4.37908209693916e-08simple_aaeaffectedI864Tsingle base exchangers1071600show file
MYOM1polymorphism_automatic6.72801035770387e-05simple_aaeaffectedI960Tsingle base exchangers1071600show file
MYOM1polymorphism_automatic6.72801035770387e-05simple_aaeaffectedI960Tsingle base exchangers1071600show file

Taster files

Yum, tasty mutations...

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999956209179 (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) chr18:3126811A>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.2591T>C
cDNA.2666T>C
g.93296T>C
AA changes I864T Score: 89 explain score(s)
position(s) of altered AA
if AA alteration in CDS
864
frameshift no
known variant Reference ID: rs1071600
databasehomozygous (G/G)heterozygousallele carriers
1000G1908941084
ExAC24301820720637
regulatory features USF1, Transcription Factor, USF1 Transcription Factor Binding
phyloP / phastCons
PhyloPPhastCons
(flanking)0.230.655
0.2860.619
(flanking)1.0620.624
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased93288wt: 0.9980 / mu: 0.9990 (marginal change - not scored)wt: CAACCAGATAAGATT
mu: CAACCAGATAAGACT
 ACCA|gata
Donor increased93293wt: 0.58 / mu: 0.67wt: AGATAAGATTGGAGG
mu: AGATAAGACTGGAGG
 ATAA|gatt
Donor increased93295wt: 0.81 / mu: 0.95wt: ATAAGATTGGAGGGG
mu: ATAAGACTGGAGGGG
 AAGA|ttgg
distance from splice site 85
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      864SMVLGWKQPDKIGGAEITGYYVNY
mutated  not conserved    864SMVLGWKQPDKTGGAEITGYYVN
Ptroglodytes  not conserved  ENSPTRG00000009834  864---------DEPGGLTASRGRVHEASPPTF
Mmulatta  not conserved  ENSMMUG00000019892  863---------DEPGGLTASRGCVHEASPPIF
Fcatus  no alignment  ENSFCAG00000001020  n/a
Mmusculus  not conserved  ENSMUSG00000024049  942GWKQPDTTGGAEITGYYVN
Ggallus  not conserved  ENSGALG00000014847  929SMVLGWKQPKATGGTEITGYYVN
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
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 2591
cDNA position
(for ins/del: last normal base / first normal base)
2666
gDNA position
(for ins/del: last normal base / first normal base)
93296
chromosomal position
(for ins/del: last normal base / first normal base)
3126811
original gDNA sequence snippet ATGGAAGCAACCAGATAAGATTGGAGGGGCAGAAATTACTG
altered gDNA sequence snippet ATGGAAGCAACCAGATAAGACTGGAGGGGCAGAAATTACTG
original cDNA sequence snippet ATGGAAGCAACCAGATAAGATTGGAGGGGCAGAAATTACTG
altered cDNA sequence snippet ATGGAAGCAACCAGATAAGACTGGAGGGGCAGAAATTACTG
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
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 PDKTGGAEIT 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 1.90 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: 0.999932719896423 (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) chr18:3126811A>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.2879T>C
cDNA.3213T>C
g.93296T>C
AA changes I960T Score: 89 explain score(s)
position(s) of altered AA
if AA alteration in CDS
960
frameshift no
known variant Reference ID: rs1071600
databasehomozygous (G/G)heterozygousallele carriers
1000G1908941084
ExAC24301820720637
regulatory features USF1, Transcription Factor, USF1 Transcription Factor Binding
phyloP / phastCons
PhyloPPhastCons
(flanking)0.230.655
0.2860.619
(flanking)1.0620.624
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased93288wt: 0.9980 / mu: 0.9990 (marginal change - not scored)wt: CAACCAGATAAGATT
mu: CAACCAGATAAGACT
 ACCA|gata
Donor increased93293wt: 0.58 / mu: 0.67wt: AGATAAGATTGGAGG
mu: AGATAAGACTGGAGG
 ATAA|gatt
Donor increased93295wt: 0.81 / mu: 0.95wt: ATAAGATTGGAGGGG
mu: ATAAGACTGGAGGGG
 AAGA|ttgg
distance from splice site 85
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      960SMVLGWKQPDKIGGAEITGYYVNY
mutated  not conserved    960SMVLGWKQPDKTGGAEITGYYVN
Ptroglodytes  all identical  ENSPTRG00000009834  960SMVLGWKQPDKIGGAEITGYYVN
Mmulatta  all identical  ENSMMUG00000019892  959SMVLGWKQPDKIGGAEITGYYVN
Fcatus  no alignment  ENSFCAG00000001020  n/a
Mmusculus  not conserved  ENSMUSG00000024049  942SMVLGWKQPDTTGGAEITGYYVN
Ggallus  not conserved  ENSGALG00000014847  929SMVLGWKQPKATGGTEITGYYVN
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
9331029DOMAINFibronectin type-III 4.lost
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 2879
cDNA position
(for ins/del: last normal base / first normal base)
3213
gDNA position
(for ins/del: last normal base / first normal base)
93296
chromosomal position
(for ins/del: last normal base / first normal base)
3126811
original gDNA sequence snippet ATGGAAGCAACCAGATAAGATTGGAGGGGCAGAAATTACTG
altered gDNA sequence snippet ATGGAAGCAACCAGATAAGACTGGAGGGGCAGAAATTACTG
original cDNA sequence snippet ATGGAAGCAACCAGATAAGATTGGAGGGGCAGAAATTACTG
altered cDNA sequence snippet ATGGAAGCAACCAGATAAGACTGGAGGGGCAGAAATTACTG
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
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 VLGWKQPDKT
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 1.47 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: 0.999932719896423 (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) chr18:3126811A>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.2879T>C
cDNA.3213T>C
g.93296T>C
AA changes I960T Score: 89 explain score(s)
position(s) of altered AA
if AA alteration in CDS
960
frameshift no
known variant Reference ID: rs1071600
databasehomozygous (G/G)heterozygousallele carriers
1000G1908941084
ExAC24301820720637
regulatory features USF1, Transcription Factor, USF1 Transcription Factor Binding
phyloP / phastCons
PhyloPPhastCons
(flanking)0.230.655
0.2860.619
(flanking)1.0620.624
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased93288wt: 0.9980 / mu: 0.9990 (marginal change - not scored)wt: CAACCAGATAAGATT
mu: CAACCAGATAAGACT
 ACCA|gata
Donor increased93293wt: 0.58 / mu: 0.67wt: AGATAAGATTGGAGG
mu: AGATAAGACTGGAGG
 ATAA|gatt
Donor increased93295wt: 0.81 / mu: 0.95wt: ATAAGATTGGAGGGG
mu: ATAAGACTGGAGGGG
 AAGA|ttgg
distance from splice site 85
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      960SMVLGWKQPDKIGGAEITGYYVNY
mutated  not conserved    960SMVLGWKQPDKTGGAEITGYYVN
Ptroglodytes  all identical  ENSPTRG00000009834  960SMVLGWKQPDKIGGAEITGYYVN
Mmulatta  all identical  ENSMMUG00000019892  959SMVLGWKQPDKIGGAEITGYYVN
Fcatus  no alignment  ENSFCAG00000001020  n/a
Mmusculus  not conserved  ENSMUSG00000024049  942SMVLGWKQPDTTGGAEITGYYVN
Ggallus  not conserved  ENSGALG00000014847  929SMVLGWKQPKATGGTEITGYYVN
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
9331029DOMAINFibronectin type-III 4.lost
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 2879
cDNA position
(for ins/del: last normal base / first normal base)
3213
gDNA position
(for ins/del: last normal base / first normal base)
93296
chromosomal position
(for ins/del: last normal base / first normal base)
3126811
original gDNA sequence snippet ATGGAAGCAACCAGATAAGATTGGAGGGGCAGAAATTACTG
altered gDNA sequence snippet ATGGAAGCAACCAGATAAGACTGGAGGGGCAGAAATTACTG
original cDNA sequence snippet ATGGAAGCAACCAGATAAGATTGGAGGGGCAGAAATTACTG
altered cDNA sequence snippet ATGGAAGCAACCAGATAAGACTGGAGGGGCAGAAATTACTG
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
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 VLGWKQPDKT
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 1.92 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