Yum, tasty mutations...

MutationTaster - study a chromosomal position

MTQE documentation
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input seems to be ok - now mapping the variant to the different transcripts...
found 2 transcript(s)...
Querying Taster for transcript #1: ENST00000556564
Querying Taster for transcript #2: ENST00000328736
MT speed 0 s - this script 3.304728 s

Results


genesymbolpredictionprobabilitymodelprediction
problem
splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
PTPN21polymorphism_automatic5.12444633290476e-05simple_aaeaffectedV936Asingle base exchangers2274736show file
PTPN21polymorphism_automatic5.12444633290476e-05simple_aaeaffectedV936Asingle base exchangers2274736show file

Taster files

Yum, tasty mutations...

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999948755536671 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM1111109)
  • protein features (might be) affected
  • splice site changes
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr14:88938652A>GN/A show variant in all transcripts   IGV
HGNC symbol PTPN21
Ensembl transcript ID ENST00000556564
Genbank transcript ID NM_007039
UniProt peptide Q16825
alteration type single base exchange
alteration region CDS
DNA changes c.2807T>C
cDNA.3092T>C
g.82426T>C
AA changes V936A Score: 64 explain score(s)
position(s) of altered AA
if AA alteration in CDS
936
frameshift no
known variant Reference ID: rs2274736
databasehomozygous (G/G)heterozygousallele carriers
1000G42111401561
ExAC74121794325355

known disease mutation at this position, please check HGMD for details (HGMD ID CM1111109)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.1470.932
2.5920.998
(flanking)1.6760.998
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased82417wt: 0.8105 / mu: 0.8191 (marginal change - not scored)wt: ATTCCAAGATGTTCTTCCTTATGATGATGTGAGAGTGGAGT
mu: ATTCCAAGATGTTCTTCCTTATGATGATGCGAGAGTGGAGT
 ctta|TGAT
Acc marginally increased82426wt: 0.5279 / mu: 0.5316 (marginal change - not scored)wt: TGTTCTTCCTTATGATGATGTGAGAGTGGAGTTGGTCCCAA
mu: TGTTCTTCCTTATGATGATGCGAGAGTGGAGTTGGTCCCAA
 atgt|GAGA
Acc marginally increased82420wt: 0.9225 / mu: 0.9477 (marginal change - not scored)wt: CCAAGATGTTCTTCCTTATGATGATGTGAGAGTGGAGTTGG
mu: CCAAGATGTTCTTCCTTATGATGATGCGAGAGTGGAGTTGG
 atga|TGAT
Acc marginally increased82418wt: 0.9698 / mu: 0.9739 (marginal change - not scored)wt: TTCCAAGATGTTCTTCCTTATGATGATGTGAGAGTGGAGTT
mu: TTCCAAGATGTTCTTCCTTATGATGATGCGAGAGTGGAGTT
 ttat|GATG
Acc marginally increased82423wt: 0.8627 / mu: 0.9032 (marginal change - not scored)wt: AGATGTTCTTCCTTATGATGATGTGAGAGTGGAGTTGGTCC
mu: AGATGTTCTTCCTTATGATGATGCGAGAGTGGAGTTGGTCC
 atga|TGTG
Donor marginally increased82430wt: 0.9940 / mu: 0.9943 (marginal change - not scored)wt: GTGAGAGTGGAGTTG
mu: GCGAGAGTGGAGTTG
 GAGA|gtgg
Donor marginally increased82425wt: 0.8648 / mu: 0.9166 (marginal change - not scored)wt: ATGATGTGAGAGTGG
mu: ATGATGCGAGAGTGG
 GATG|tgag
Donor increased82428wt: 0.22 / mu: 0.38wt: ATGTGAGAGTGGAGT
mu: ATGCGAGAGTGGAGT
 GTGA|gagt
Donor gained824210.45mu: TATGATGATGCGAGA TGAT|gatg
distance from splice site 65
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      936NRFQDVLPYDDVRVELVPTKENNT
mutated  not conserved    936NRFQDVLPYDDARVELVPTKENN
Ptroglodytes  not conserved  ENSPTRG00000006607  936NRFQDVLPYDDARVELVPTKENN
Mmulatta  not conserved  ENSMMUG00000009575  936NRFQDVLPYDNARVELVPTKENN
Fcatus  no alignment  ENSFCAG00000002955  n/a
Mmusculus  not conserved  ENSMUSG00000021009  938NRFQDVLPYDDARVELVPTKENN
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
8961167DOMAINTyrosine-protein phosphatase.lost
10671067BINDINGSubstrate (Potential).might get lost (downstream of altered splice site)
11081108ACT_SITEPhosphocysteine intermediate (By similarity).might get lost (downstream of altered splice site)
11081114REGIONSubstrate binding (By similarity).might get lost (downstream of altered splice site)
11521152BINDINGSubstrate (By similarity).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3525 / 3525
position (AA) of stopcodon in wt / mu AA sequence 1175 / 1175
position of stopcodon in wt / mu cDNA 3810 / 3810
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 14
strand -1
last intron/exon boundary 3682
theoretical NMD boundary in CDS 3346
length of CDS 3525
coding sequence (CDS) position 2807
cDNA position
(for ins/del: last normal base / first normal base)
3092
gDNA position
(for ins/del: last normal base / first normal base)
82426
chromosomal position
(for ins/del: last normal base / first normal base)
88938652
original gDNA sequence snippet TGTTCTTCCTTATGATGATGTGAGAGTGGAGTTGGTCCCAA
altered gDNA sequence snippet TGTTCTTCCTTATGATGATGCGAGAGTGGAGTTGGTCCCAA
original cDNA sequence snippet TGTTCTTCCTTATGATGATGTGAGAGTGGAGTTGGTCCCAA
altered cDNA sequence snippet TGTTCTTCCTTATGATGATGCGAGAGTGGAGTTGGTCCCAA
wildtype AA sequence MPLPFGLKLK RTRRYTVSSK SCLVARIQLL NNEFVEFTLS VESTGQESLE AVAQRLELRE
VTYFSLWYYN KQNQRRWVDL EKPLKKQLDK YALEPTVYFG VVFYVPSVSQ LQQEITRYQY
YLQLKKDILE GSIPCTLEQA IQLAGLAVQA DFGDFDQYES QDFLQKFALF PVGWLQDEKV
LEEATQKVAL LHQKYRGLTA PDAEMLYMQE VERMDGYGEE SYPAKDSQGS DISIGACLEG
IFVKHKNGRH PVVFRWHDIA NMSHNKSFFA LELANKEETI QFQTEDMETA KYIWRLCVAR
HKFYRLNQCN LQTQTVTVNP IRRRSSSRMS LPKPQPYVMP PPPQLHYNGH YTEPYASSQD
NLFVPNQNGY YCHSQTSLDR AQIDLNGRIR NGSVYSAHST NSLNNPQPYL QPSPMSSNPS
ITGSDVMRPD YLPSHRHSAV IPPSYRPTPD YETVMKQLNR GLVHAERQSH SLRNLNIGSS
YAYSRPAALV YSQPEIREHA QLPSPAAAHC PFSLSYSFHS PSPYPYPAER RPVVGAVSVP
ELTNAQLQAQ DYPSPNIMRT QVYRPPPPYP PPRPANSTPD LSRHLYISSS NPDLITRRVH
HSVQTFQEDS LPVAHSLQEV SEPLTAARHA QLHKRNSIEV AGLSHGLEGL RLKERTLSAS
AAEVAPRAVS VGSQPSVFTE RTQREGPEEA EGLRYGHKKS LSDATMLIHS SEEEEDEDFE
EESGARAPPA RAREPRPGLA QDPPGCPRVL LAGPLHILEP KAHVPDAEKR MMDSSPVRTT
AEAQRPWRDG LLMPSMSESD LTTSGRYRAR RDSLKKRPVS DLLSGKKNIV EGLPPLGGMK
KTRVDAKKIG PLKLAALNGL SLSRVPLPDE GKEVATRATN DERCKILEQR LEQGMVFTEY
ERILKKRLVD GECSTARLPE NAERNRFQDV LPYDDVRVEL VPTKENNTGY INASHIKVSV
SGIEWDYIAT QGPLQNTCQD FWQMVWEQGI AIIAMVTAEE EGGREKSFRY WPRLGSRHNT
VTYGRFKITT RFRTDSGCYA TTGLKMKHLL TGQERTVWHL QYTDWPEHGC PEDLKGFLSY
LEEIQSVRRH TNSTSDPQSP NPPLLVHCSA GVGRTGVVIL SEIMIACLEH NEVLDIPRVL
DMLRQQRMML VQTLCQYTFV YRVLIQFLKS SRLI*
mutated AA sequence MPLPFGLKLK RTRRYTVSSK SCLVARIQLL NNEFVEFTLS VESTGQESLE AVAQRLELRE
VTYFSLWYYN KQNQRRWVDL EKPLKKQLDK YALEPTVYFG VVFYVPSVSQ LQQEITRYQY
YLQLKKDILE GSIPCTLEQA IQLAGLAVQA DFGDFDQYES QDFLQKFALF PVGWLQDEKV
LEEATQKVAL LHQKYRGLTA PDAEMLYMQE VERMDGYGEE SYPAKDSQGS DISIGACLEG
IFVKHKNGRH PVVFRWHDIA NMSHNKSFFA LELANKEETI QFQTEDMETA KYIWRLCVAR
HKFYRLNQCN LQTQTVTVNP IRRRSSSRMS LPKPQPYVMP PPPQLHYNGH YTEPYASSQD
NLFVPNQNGY YCHSQTSLDR AQIDLNGRIR NGSVYSAHST NSLNNPQPYL QPSPMSSNPS
ITGSDVMRPD YLPSHRHSAV IPPSYRPTPD YETVMKQLNR GLVHAERQSH SLRNLNIGSS
YAYSRPAALV YSQPEIREHA QLPSPAAAHC PFSLSYSFHS PSPYPYPAER RPVVGAVSVP
ELTNAQLQAQ DYPSPNIMRT QVYRPPPPYP PPRPANSTPD LSRHLYISSS NPDLITRRVH
HSVQTFQEDS LPVAHSLQEV SEPLTAARHA QLHKRNSIEV AGLSHGLEGL RLKERTLSAS
AAEVAPRAVS VGSQPSVFTE RTQREGPEEA EGLRYGHKKS LSDATMLIHS SEEEEDEDFE
EESGARAPPA RAREPRPGLA QDPPGCPRVL LAGPLHILEP KAHVPDAEKR MMDSSPVRTT
AEAQRPWRDG LLMPSMSESD LTTSGRYRAR RDSLKKRPVS DLLSGKKNIV EGLPPLGGMK
KTRVDAKKIG PLKLAALNGL SLSRVPLPDE GKEVATRATN DERCKILEQR LEQGMVFTEY
ERILKKRLVD GECSTARLPE NAERNRFQDV LPYDDARVEL VPTKENNTGY INASHIKVSV
SGIEWDYIAT QGPLQNTCQD FWQMVWEQGI AIIAMVTAEE EGGREKSFRY WPRLGSRHNT
VTYGRFKITT RFRTDSGCYA TTGLKMKHLL TGQERTVWHL QYTDWPEHGC PEDLKGFLSY
LEEIQSVRRH TNSTSDPQSP NPPLLVHCSA GVGRTGVVIL SEIMIACLEH NEVLDIPRVL
DMLRQQRMML VQTLCQYTFV YRVLIQFLKS SRLI*
speed 0.45 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: 0.999948755536671 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM1111109)
  • protein features (might be) affected
  • splice site changes
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr14:88938652A>GN/A show variant in all transcripts   IGV
HGNC symbol PTPN21
Ensembl transcript ID ENST00000328736
Genbank transcript ID N/A
UniProt peptide Q16825
alteration type single base exchange
alteration region CDS
DNA changes c.2807T>C
cDNA.3012T>C
g.82426T>C
AA changes V936A Score: 64 explain score(s)
position(s) of altered AA
if AA alteration in CDS
936
frameshift no
known variant Reference ID: rs2274736
databasehomozygous (G/G)heterozygousallele carriers
1000G42111401561
ExAC74121794325355

known disease mutation at this position, please check HGMD for details (HGMD ID CM1111109)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.1470.932
2.5920.998
(flanking)1.6760.998
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased82417wt: 0.8105 / mu: 0.8191 (marginal change - not scored)wt: ATTCCAAGATGTTCTTCCTTATGATGATGTGAGAGTGGAGT
mu: ATTCCAAGATGTTCTTCCTTATGATGATGCGAGAGTGGAGT
 ctta|TGAT
Acc marginally increased82426wt: 0.5279 / mu: 0.5316 (marginal change - not scored)wt: TGTTCTTCCTTATGATGATGTGAGAGTGGAGTTGGTCCCAA
mu: TGTTCTTCCTTATGATGATGCGAGAGTGGAGTTGGTCCCAA
 atgt|GAGA
Acc marginally increased82420wt: 0.9225 / mu: 0.9477 (marginal change - not scored)wt: CCAAGATGTTCTTCCTTATGATGATGTGAGAGTGGAGTTGG
mu: CCAAGATGTTCTTCCTTATGATGATGCGAGAGTGGAGTTGG
 atga|TGAT
Acc marginally increased82418wt: 0.9698 / mu: 0.9739 (marginal change - not scored)wt: TTCCAAGATGTTCTTCCTTATGATGATGTGAGAGTGGAGTT
mu: TTCCAAGATGTTCTTCCTTATGATGATGCGAGAGTGGAGTT
 ttat|GATG
Acc marginally increased82423wt: 0.8627 / mu: 0.9032 (marginal change - not scored)wt: AGATGTTCTTCCTTATGATGATGTGAGAGTGGAGTTGGTCC
mu: AGATGTTCTTCCTTATGATGATGCGAGAGTGGAGTTGGTCC
 atga|TGTG
Donor marginally increased82430wt: 0.9940 / mu: 0.9943 (marginal change - not scored)wt: GTGAGAGTGGAGTTG
mu: GCGAGAGTGGAGTTG
 GAGA|gtgg
Donor marginally increased82425wt: 0.8648 / mu: 0.9166 (marginal change - not scored)wt: ATGATGTGAGAGTGG
mu: ATGATGCGAGAGTGG
 GATG|tgag
Donor increased82428wt: 0.22 / mu: 0.38wt: ATGTGAGAGTGGAGT
mu: ATGCGAGAGTGGAGT
 GTGA|gagt
Donor gained824210.45mu: TATGATGATGCGAGA TGAT|gatg
distance from splice site 65
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      936NRFQDVLPYDDVRVELVPTKENNT
mutated  not conserved    936NRFQDVLPYDDARVELVPTKENN
Ptroglodytes  not conserved  ENSPTRG00000006607  936NRFQDVLPYDDARVELVPTKENN
Mmulatta  not conserved  ENSMMUG00000009575  936NRFQDVLPYDNARVELVPTKENN
Fcatus  no alignment  ENSFCAG00000002955  n/a
Mmusculus  not conserved  ENSMUSG00000021009  938NRFQDVLPYDDARVELVPTKENN
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
8961167DOMAINTyrosine-protein phosphatase.lost
10671067BINDINGSubstrate (Potential).might get lost (downstream of altered splice site)
11081108ACT_SITEPhosphocysteine intermediate (By similarity).might get lost (downstream of altered splice site)
11081114REGIONSubstrate binding (By similarity).might get lost (downstream of altered splice site)
11521152BINDINGSubstrate (By similarity).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3525 / 3525
position (AA) of stopcodon in wt / mu AA sequence 1175 / 1175
position of stopcodon in wt / mu cDNA 3730 / 3730
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 206 / 206
chromosome 14
strand -1
last intron/exon boundary 3602
theoretical NMD boundary in CDS 3346
length of CDS 3525
coding sequence (CDS) position 2807
cDNA position
(for ins/del: last normal base / first normal base)
3012
gDNA position
(for ins/del: last normal base / first normal base)
82426
chromosomal position
(for ins/del: last normal base / first normal base)
88938652
original gDNA sequence snippet TGTTCTTCCTTATGATGATGTGAGAGTGGAGTTGGTCCCAA
altered gDNA sequence snippet TGTTCTTCCTTATGATGATGCGAGAGTGGAGTTGGTCCCAA
original cDNA sequence snippet TGTTCTTCCTTATGATGATGTGAGAGTGGAGTTGGTCCCAA
altered cDNA sequence snippet TGTTCTTCCTTATGATGATGCGAGAGTGGAGTTGGTCCCAA
wildtype AA sequence MPLPFGLKLK RTRRYTVSSK SCLVARIQLL NNEFVEFTLS VESTGQESLE AVAQRLELRE
VTYFSLWYYN KQNQRRWVDL EKPLKKQLDK YALEPTVYFG VVFYVPSVSQ LQQEITRYQY
YLQLKKDILE GSIPCTLEQA IQLAGLAVQA DFGDFDQYES QDFLQKFALF PVGWLQDEKV
LEEATQKVAL LHQKYRGLTA PDAEMLYMQE VERMDGYGEE SYPAKDSQGS DISIGACLEG
IFVKHKNGRH PVVFRWHDIA NMSHNKSFFA LELANKEETI QFQTEDMETA KYIWRLCVAR
HKFYRLNQCN LQTQTVTVNP IRRRSSSRMS LPKPQPYVMP PPPQLHYNGH YTEPYASSQD
NLFVPNQNGY YCHSQTSLDR AQIDLNGRIR NGSVYSAHST NSLNNPQPYL QPSPMSSNPS
ITGSDVMRPD YLPSHRHSAV IPPSYRPTPD YETVMKQLNR GLVHAERQSH SLRNLNIGSS
YAYSRPAALV YSQPEIREHA QLPSPAAAHC PFSLSYSFHS PSPYPYPAER RPVVGAVSVP
ELTNAQLQAQ DYPSPNIMRT QVYRPPPPYP PPRPANSTPD LSRHLYISSS NPDLITRRVH
HSVQTFQEDS LPVAHSLQEV SEPLTAARHA QLHKRNSIEV AGLSHGLEGL RLKERTLSAS
AAEVAPRAVS VGSQPSVFTE RTQREGPEEA EGLRYGHKKS LSDATMLIHS SEEEEDEDFE
EESGARAPPA RAREPRPGLA QDPPGCPRVL LAGPLHILEP KAHVPDAEKR MMDSSPVRTT
AEAQRPWRDG LLMPSMSESD LTTSGRYRAR RDSLKKRPVS DLLSGKKNIV EGLPPLGGMK
KTRVDAKKIG PLKLAALNGL SLSRVPLPDE GKEVATRATN DERCKILEQR LEQGMVFTEY
ERILKKRLVD GECSTARLPE NAERNRFQDV LPYDDVRVEL VPTKENNTGY INASHIKVSV
SGIEWDYIAT QGPLQNTCQD FWQMVWEQGI AIIAMVTAEE EGGREKSFRY WPRLGSRHNT
VTYGRFKITT RFRTDSGCYA TTGLKMKHLL TGQERTVWHL QYTDWPEHGC PEDLKGFLSY
LEEIQSVRRH TNSTSDPQSP NPPLLVHCSA GVGRTGVVIL SEIMIACLEH NEVLDIPRVL
DMLRQQRMML VQTLCQYTFV YRVLIQFLKS SRLI*
mutated AA sequence MPLPFGLKLK RTRRYTVSSK SCLVARIQLL NNEFVEFTLS VESTGQESLE AVAQRLELRE
VTYFSLWYYN KQNQRRWVDL EKPLKKQLDK YALEPTVYFG VVFYVPSVSQ LQQEITRYQY
YLQLKKDILE GSIPCTLEQA IQLAGLAVQA DFGDFDQYES QDFLQKFALF PVGWLQDEKV
LEEATQKVAL LHQKYRGLTA PDAEMLYMQE VERMDGYGEE SYPAKDSQGS DISIGACLEG
IFVKHKNGRH PVVFRWHDIA NMSHNKSFFA LELANKEETI QFQTEDMETA KYIWRLCVAR
HKFYRLNQCN LQTQTVTVNP IRRRSSSRMS LPKPQPYVMP PPPQLHYNGH YTEPYASSQD
NLFVPNQNGY YCHSQTSLDR AQIDLNGRIR NGSVYSAHST NSLNNPQPYL QPSPMSSNPS
ITGSDVMRPD YLPSHRHSAV IPPSYRPTPD YETVMKQLNR GLVHAERQSH SLRNLNIGSS
YAYSRPAALV YSQPEIREHA QLPSPAAAHC PFSLSYSFHS PSPYPYPAER RPVVGAVSVP
ELTNAQLQAQ DYPSPNIMRT QVYRPPPPYP PPRPANSTPD LSRHLYISSS NPDLITRRVH
HSVQTFQEDS LPVAHSLQEV SEPLTAARHA QLHKRNSIEV AGLSHGLEGL RLKERTLSAS
AAEVAPRAVS VGSQPSVFTE RTQREGPEEA EGLRYGHKKS LSDATMLIHS SEEEEDEDFE
EESGARAPPA RAREPRPGLA QDPPGCPRVL LAGPLHILEP KAHVPDAEKR MMDSSPVRTT
AEAQRPWRDG LLMPSMSESD LTTSGRYRAR RDSLKKRPVS DLLSGKKNIV EGLPPLGGMK
KTRVDAKKIG PLKLAALNGL SLSRVPLPDE GKEVATRATN DERCKILEQR LEQGMVFTEY
ERILKKRLVD GECSTARLPE NAERNRFQDV LPYDDARVEL VPTKENNTGY INASHIKVSV
SGIEWDYIAT QGPLQNTCQD FWQMVWEQGI AIIAMVTAEE EGGREKSFRY WPRLGSRHNT
VTYGRFKITT RFRTDSGCYA TTGLKMKHLL TGQERTVWHL QYTDWPEHGC PEDLKGFLSY
LEEIQSVRRH TNSTSDPQSP NPPLLVHCSA GVGRTGVVIL SEIMIACLEH NEVLDIPRVL
DMLRQQRMML VQTLCQYTFV YRVLIQFLKS SRLI*
speed 0.86 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

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