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 2 transcript(s)...
Querying Taster for transcript #1: ENST00000286827
Querying Taster for transcript #2: ENST00000541036
MT speed 0 s - this script 2.26494 s

Results


genesymbolpredictionprobabilitymodelprediction
problem
splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
TIAM1polymorphism_automatic0.98782037215887simple_aaeaffectedG247Rsingle base exchangers2070418show file
TIAM1polymorphism_automatic0.98782037215887simple_aaeaffectedG247Rsingle base exchangers2070418show file

Taster files

Yum, tasty mutations...

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.0121796278411297 (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) chr21:32638550C>TN/A show variant in all transcripts   IGV
HGNC symbol TIAM1
Ensembl transcript ID ENST00000286827
Genbank transcript ID NM_003253
UniProt peptide Q13009
alteration type single base exchange
alteration region CDS
DNA changes c.739G>A
cDNA.1211G>A
g.293741G>A
AA changes G247R Score: 125 explain score(s)
position(s) of altered AA
if AA alteration in CDS
247
frameshift no
known variant Reference ID: rs2070418
databasehomozygous (T/T)heterozygousallele carriers
1000G185699884
ExAC26471540318050
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)2.0330.985
1.3590.91
(flanking)-0.0320.415
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained2937410.41mu: CAAACAGGGGGCCGG AACA|gggg
Donor gained2937370.46mu: ACAGCAAACAGGGGG AGCA|aaca
Donor gained2937390.31mu: AGCAAACAGGGGGCC CAAA|cagg
distance from splice site 225
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      247YAQKNSGVTANGGPGSKFAGYCRN
mutated  not conserved    247SGVTANRGPGSKFAGYCR
Ptroglodytes  all identical  ENSPTRG00000013846  247SGVTANGGPGSKFAGYCR
Mmulatta  all identical  ENSMMUG00000019571  247SGVTANGGPGSKFAGYCR
Fcatus  all identical  ENSFCAG00000002364  247SGVTANGGPRSKFAGYCR
Mmusculus  all identical  ENSMUSG00000002489  247SGVKANGGPRNRFSSYCR
Ggallus  all identical  ENSGALG00000015842  249KAPSAAVNGGPRNAFGGYCR
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000025920  204GTKPSH--------GRYARWHK
Dmelanogaster  no alignment  FBgn0085447  n/a
Celegans  no alignment  C11D9.1  n/a
Xtropicalis  all identical  ENSXETG00000007347  245INPHASVNGAPRSKFMVYCR
protein features
start (aa)end (aa)featuredetails 
247247CONFLICTG -> M (in Ref. 1; AAA98443).lost
356356MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
358358MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
434549DOMAINPH 1.might get lost (downstream of altered splice site)
595598COMPBIASPoly-Lys.might get lost (downstream of altered splice site)
765832DOMAINRBD.might get lost (downstream of altered splice site)
829829MOD_RESPhosphotyrosine; by NTRK2 (By similarity).might get lost (downstream of altered splice site)
842849STRANDmight get lost (downstream of altered splice site)
845908DOMAINPDZ.might get lost (downstream of altered splice site)
855858TURNmight get lost (downstream of altered splice site)
859865STRANDmight get lost (downstream of altered splice site)
867870STRANDmight get lost (downstream of altered splice site)
872878STRANDmight get lost (downstream of altered splice site)
883886HELIXmight get lost (downstream of altered splice site)
894898STRANDmight get lost (downstream of altered splice site)
903905HELIXmight get lost (downstream of altered splice site)
908916HELIXmight get lost (downstream of altered splice site)
917926STRANDmight get lost (downstream of altered splice site)
951951CONFLICTG -> D (in Ref. 1; AAA98443).might get lost (downstream of altered splice site)
10181018CONFLICTS -> N (in Ref. 1; AAA98443).might get lost (downstream of altered splice site)
10401041CONFLICTKL -> NV (in Ref. 1; AAA98443).might get lost (downstream of altered splice site)
10401234DOMAINDH.might get lost (downstream of altered splice site)
11481148CONFLICTS -> I (in Ref. 1; AAA98443).might get lost (downstream of altered splice site)
12611397DOMAINPH 2.might get lost (downstream of altered splice site)
13231323MOD_RESPhosphotyrosine (By similarity).might get lost (downstream of altered splice site)
14451449COMPBIASPoly-Arg.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 4776 / 4776
position (AA) of stopcodon in wt / mu AA sequence 1592 / 1592
position of stopcodon in wt / mu cDNA 5248 / 5248
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 473 / 473
chromosome 21
strand -1
last intron/exon boundary 4779
theoretical NMD boundary in CDS 4256
length of CDS 4776
coding sequence (CDS) position 739
cDNA position
(for ins/del: last normal base / first normal base)
1211
gDNA position
(for ins/del: last normal base / first normal base)
293741
chromosomal position
(for ins/del: last normal base / first normal base)
32638550
original gDNA sequence snippet ACTCTGGAGTGACAGCAAACGGGGGGCCGGGGAGCAAATTT
altered gDNA sequence snippet ACTCTGGAGTGACAGCAAACAGGGGGCCGGGGAGCAAATTT
original cDNA sequence snippet ACTCTGGAGTGACAGCAAACGGGGGGCCGGGGAGCAAATTT
altered cDNA sequence snippet ACTCTGGAGTGACAGCAAACAGGGGGCCGGGGAGCAAATTT
wildtype AA sequence MGNAESQHVE HEFYGEKHAS LGRKHTSRSL RLSHKTRRTR HASSGKVIHR NSEVSTRSSS
TPSIPQSLAE NGLEPFSQDG TLEDFGSPIW VDRVDMGLRP VSYTDSSVTP SVDSSIVLTA
ASVQSMPDTE ESRLYGDDAT YLAEGGRRQH SYTSNGPTFM ETASFKKKRS KSADIWREDS
LEFSLSDLSQ EHLTSNEEIL GSAEEKDCEE ARGMETRASP RQLSTCQRAN SLGDLYAQKN
SGVTANGGPG SKFAGYCRNL VSDIPNLANH KMPPAAAEET PPYSNYNTLP CRKSHCLSEG
ATNPQISHSN SMQGRRAKTT QDVNAGEGSE FADSGIEGAT TDTDLLSRRS NATNSSYSPT
TGRAFVGSDS GSSSTGDAAR QGVYENFRRE LEMSTTNSES LEEAGSAHSD EQSSGTLSSP
GQSDILLTAA QGTVRKAGAL AVKNFLVHKK NKKVESATRR KWKHYWVSLK GCTLFFYESD
GRSGIDHNSI PKHAVWVENS IVQAVPEHPK KDFVFCLSNS LGDAFLFQTT SQTELENWIT
AIHSACATAV ARHHHKEDTL RLLKSEIKKL EQKIDMDEKM KKMGEMQLSS VTDSKKKKTI
LDQIFVWEQN LEQFQMDLFR FRCYLASLQG GELPNPKRLL AFASRPTKVA MGRLGIFSVS
SFHALVAART GETGVRRRTQ AMSRSASKRR SRFSSLWGLD TTSKKKQGRP SINQVFGEGT
EAVKKSLEGI FDDIVPDGKR EKEVVLPNVH QHNPDCDIWV HEYFTPSWFC LPNNQPALTV
VRPGDTARDT LELICKTHQL DHSAHYLRLK FLIENKMQLY VPQPEEDIYE LLYKEIEICP
KVTQSIHIEK SDTAADTYGF SLSSVEEDGI RRLYVNSVKE TGLASKKGLK AGDEILEINN
RAADALNSSM LKDFLSQPSL GLLVRTYPEL EEGVELLESP PHRVDGPADL GESPLAFLTS
NPGHSLCSEQ GSSAETAPEE TEGPDLESSD ETDHSSKSTE QVAAFCRSLH EMNPSDQSPS
PQDSTGPQLA TMRQLSDADK LRKVICELLE TERTYVKDLN CLMERYLKPL QKETFLTQDE
LDVLFGNLTE MVEFQVEFLK TLEDGVRLVP DLEKLEKVDQ FKKVLFSLGG SFLYYADRFK
LYSAFCASHT KVPKVLVKAK TDTAFKAFLD AQNPKQQHSS TLESYLIKPI QRILKYPLLL
RELFALTDAE SEEHYHLDVA IKTMNKVASH INEMQKIHEE FGAVFDQLIA EQTGEKKEVA
DLSMGDLLLH TTVIWLNPPA SLGKWKKEPE LAAFVFKTAV VLVYKDGSKQ KKKLVGSHRL
SIYEDWDPFR FRHMIPTEAL QVRALASADA EANAVCEIVH VKSESEGRPE RVFHLCCSSP
ESRKDFLKAV HSILRDKHRR QLLKTESLPS SQQYVPFGGK RLCALKGARP AMSRAVSAPS
KSLGRRRRRL ARNRFTIDSD AVSASSPEKE SQQPPGGGDT DRWVEEQFDL AQYEEQDDIK
ETDILSDDDE FCESVKGASV DRDLQERLQA TSISQRERGR KTLDSHASRM AQLKKQAALS
GINGGLESAS EEVIWVRRED FAPSRKLNTE I*
mutated AA sequence MGNAESQHVE HEFYGEKHAS LGRKHTSRSL RLSHKTRRTR HASSGKVIHR NSEVSTRSSS
TPSIPQSLAE NGLEPFSQDG TLEDFGSPIW VDRVDMGLRP VSYTDSSVTP SVDSSIVLTA
ASVQSMPDTE ESRLYGDDAT YLAEGGRRQH SYTSNGPTFM ETASFKKKRS KSADIWREDS
LEFSLSDLSQ EHLTSNEEIL GSAEEKDCEE ARGMETRASP RQLSTCQRAN SLGDLYAQKN
SGVTANRGPG SKFAGYCRNL VSDIPNLANH KMPPAAAEET PPYSNYNTLP CRKSHCLSEG
ATNPQISHSN SMQGRRAKTT QDVNAGEGSE FADSGIEGAT TDTDLLSRRS NATNSSYSPT
TGRAFVGSDS GSSSTGDAAR QGVYENFRRE LEMSTTNSES LEEAGSAHSD EQSSGTLSSP
GQSDILLTAA QGTVRKAGAL AVKNFLVHKK NKKVESATRR KWKHYWVSLK GCTLFFYESD
GRSGIDHNSI PKHAVWVENS IVQAVPEHPK KDFVFCLSNS LGDAFLFQTT SQTELENWIT
AIHSACATAV ARHHHKEDTL RLLKSEIKKL EQKIDMDEKM KKMGEMQLSS VTDSKKKKTI
LDQIFVWEQN LEQFQMDLFR FRCYLASLQG GELPNPKRLL AFASRPTKVA MGRLGIFSVS
SFHALVAART GETGVRRRTQ AMSRSASKRR SRFSSLWGLD TTSKKKQGRP SINQVFGEGT
EAVKKSLEGI FDDIVPDGKR EKEVVLPNVH QHNPDCDIWV HEYFTPSWFC LPNNQPALTV
VRPGDTARDT LELICKTHQL DHSAHYLRLK FLIENKMQLY VPQPEEDIYE LLYKEIEICP
KVTQSIHIEK SDTAADTYGF SLSSVEEDGI RRLYVNSVKE TGLASKKGLK AGDEILEINN
RAADALNSSM LKDFLSQPSL GLLVRTYPEL EEGVELLESP PHRVDGPADL GESPLAFLTS
NPGHSLCSEQ GSSAETAPEE TEGPDLESSD ETDHSSKSTE QVAAFCRSLH EMNPSDQSPS
PQDSTGPQLA TMRQLSDADK LRKVICELLE TERTYVKDLN CLMERYLKPL QKETFLTQDE
LDVLFGNLTE MVEFQVEFLK TLEDGVRLVP DLEKLEKVDQ FKKVLFSLGG SFLYYADRFK
LYSAFCASHT KVPKVLVKAK TDTAFKAFLD AQNPKQQHSS TLESYLIKPI QRILKYPLLL
RELFALTDAE SEEHYHLDVA IKTMNKVASH INEMQKIHEE FGAVFDQLIA EQTGEKKEVA
DLSMGDLLLH TTVIWLNPPA SLGKWKKEPE LAAFVFKTAV VLVYKDGSKQ KKKLVGSHRL
SIYEDWDPFR FRHMIPTEAL QVRALASADA EANAVCEIVH VKSESEGRPE RVFHLCCSSP
ESRKDFLKAV HSILRDKHRR QLLKTESLPS SQQYVPFGGK RLCALKGARP AMSRAVSAPS
KSLGRRRRRL ARNRFTIDSD AVSASSPEKE SQQPPGGGDT DRWVEEQFDL AQYEEQDDIK
ETDILSDDDE FCESVKGASV DRDLQERLQA TSISQRERGR KTLDSHASRM AQLKKQAALS
GINGGLESAS EEVIWVRRED FAPSRKLNTE I*
speed 0.14 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: 0.0121796278411297 (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) chr21:32638550C>TN/A show variant in all transcripts   IGV
HGNC symbol TIAM1
Ensembl transcript ID ENST00000541036
Genbank transcript ID N/A
UniProt peptide Q13009
alteration type single base exchange
alteration region CDS
DNA changes c.739G>A
cDNA.786G>A
g.293741G>A
AA changes G247R Score: 125 explain score(s)
position(s) of altered AA
if AA alteration in CDS
247
frameshift no
known variant Reference ID: rs2070418
databasehomozygous (T/T)heterozygousallele carriers
1000G185699884
ExAC26471540318050
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)2.0330.985
1.3590.91
(flanking)-0.0320.415
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained2937410.41mu: CAAACAGGGGGCCGG AACA|gggg
Donor gained2937370.46mu: ACAGCAAACAGGGGG AGCA|aaca
Donor gained2937390.31mu: AGCAAACAGGGGGCC CAAA|cagg
distance from splice site 225
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      247YAQKNSGVTANGGPGSKFAGYCRN
mutated  not conserved    247SGVTANRGPGSKFAGYCR
Ptroglodytes  all identical  ENSPTRG00000013846  247SGVTANGGPGSKFAGYCR
Mmulatta  all identical  ENSMMUG00000019571  247SGVTANGGPGSKFAGYCR
Fcatus  all identical  ENSFCAG00000002364  247SGVTANGGPRSKFAGYCR
Mmusculus  all identical  ENSMUSG00000002489  247SGVKANGGPRNRFSSYCR
Ggallus  all identical  ENSGALG00000015842  249KAPSAAVNGGPRNAFGGYCR
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000025920  204GTKPSH--------GRYARWHK
Dmelanogaster  no alignment  FBgn0085447  n/a
Celegans  no alignment  C11D9.1  n/a
Xtropicalis  all identical  ENSXETG00000007347  245INPHASVNGAPRSKFMVYCR
protein features
start (aa)end (aa)featuredetails 
247247CONFLICTG -> M (in Ref. 1; AAA98443).lost
356356MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
358358MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
434549DOMAINPH 1.might get lost (downstream of altered splice site)
595598COMPBIASPoly-Lys.might get lost (downstream of altered splice site)
765832DOMAINRBD.might get lost (downstream of altered splice site)
829829MOD_RESPhosphotyrosine; by NTRK2 (By similarity).might get lost (downstream of altered splice site)
842849STRANDmight get lost (downstream of altered splice site)
845908DOMAINPDZ.might get lost (downstream of altered splice site)
855858TURNmight get lost (downstream of altered splice site)
859865STRANDmight get lost (downstream of altered splice site)
867870STRANDmight get lost (downstream of altered splice site)
872878STRANDmight get lost (downstream of altered splice site)
883886HELIXmight get lost (downstream of altered splice site)
894898STRANDmight get lost (downstream of altered splice site)
903905HELIXmight get lost (downstream of altered splice site)
908916HELIXmight get lost (downstream of altered splice site)
917926STRANDmight get lost (downstream of altered splice site)
951951CONFLICTG -> D (in Ref. 1; AAA98443).might get lost (downstream of altered splice site)
10181018CONFLICTS -> N (in Ref. 1; AAA98443).might get lost (downstream of altered splice site)
10401041CONFLICTKL -> NV (in Ref. 1; AAA98443).might get lost (downstream of altered splice site)
10401234DOMAINDH.might get lost (downstream of altered splice site)
11481148CONFLICTS -> I (in Ref. 1; AAA98443).might get lost (downstream of altered splice site)
12611397DOMAINPH 2.might get lost (downstream of altered splice site)
13231323MOD_RESPhosphotyrosine (By similarity).might get lost (downstream of altered splice site)
14451449COMPBIASPoly-Arg.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 4596 / 4596
position (AA) of stopcodon in wt / mu AA sequence 1532 / 1532
position of stopcodon in wt / mu cDNA 4643 / 4643
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 48 / 48
chromosome 21
strand -1
last intron/exon boundary 4174
theoretical NMD boundary in CDS 4076
length of CDS 4596
coding sequence (CDS) position 739
cDNA position
(for ins/del: last normal base / first normal base)
786
gDNA position
(for ins/del: last normal base / first normal base)
293741
chromosomal position
(for ins/del: last normal base / first normal base)
32638550
original gDNA sequence snippet ACTCTGGAGTGACAGCAAACGGGGGGCCGGGGAGCAAATTT
altered gDNA sequence snippet ACTCTGGAGTGACAGCAAACAGGGGGCCGGGGAGCAAATTT
original cDNA sequence snippet ACTCTGGAGTGACAGCAAACGGGGGGCCGGGGAGCAAATTT
altered cDNA sequence snippet ACTCTGGAGTGACAGCAAACAGGGGGCCGGGGAGCAAATTT
wildtype AA sequence MGNAESQHVE HEFYGEKHAS LGRKHTSRSL RLSHKTRRTR HASSGKVIHR NSEVSTRSSS
TPSIPQSLAE NGLEPFSQDG TLEDFGSPIW VDRVDMGLRP VSYTDSSVTP SVDSSIVLTA
ASVQSMPDTE ESRLYGDDAT YLAEGGRRQH SYTSNGPTFM ETASFKKKRS KSADIWREDS
LEFSLSDLSQ EHLTSNEEIL GSAEEKDCEE ARGMETRASP RQLSTCQRAN SLGDLYAQKN
SGVTANGGPG SKFAGYCRNL VSDIPNLANH KMPPAAAEET PPYSNYNTLP CRKSHCLSEG
ATNPQISHSN SMQGRRAKTT QDVNAGEGSE FADSGIEGAT TDTDLLSRRS NATNSSYSPT
TGRAFVGSDS GSSSTGDAAR QGVYENFRRE LEMSTTNSES LEEAGSAHSD EQSSGTLSSP
GQSDILLTAA QGTVRKAGAL AVKNFLVHKK NKKVESATRR KWKHYWVSLK GCTLFFYESD
GRSGIDHNSI PKHAVWVENS IVQAVPEHPK KDFVFCLSNS LGDAFLFQTT SQTELENWIT
AIHSACATAV ARHHHKEDTL RLLKSEIKKL EQKIDMDEKM KKMGEMQLSS VTDSKKKKTI
LDQIFVWEQN LEQFQMDLFR FRCYLASLQG GELPNPKRLL AFASRPTKVA MGRLGIFSVS
SFHALVAART GETGVRRRTQ AMSRSASKRR SRFSSLWGLD TTSKKKQGRP SINQREKEVV
LPNVHQHNPD CDIWVHEYFT PSWFCLPNNQ PALTVVRPGD TARDTLELIC KLYKEIEICP
KVTQSIHIEK SDTAADTYGF SLSSVEEDGI RRLYVNSVKE TGLASKKGLK AGDEILEINN
RAADALNSSM LKDFLSQPSL GLLVRTYPEL EEGVELLESP PHRVDGPADL GESPLAFLTS
NPGHSLCSEQ GSSAETAPEE TEGPDLESSD ETDHSSKSTE QVAAFCRSLH EMNPSDQSPS
PQDSTGPQLA TMRQLSDADK LRKVICELLE TERTYVKDLN CLMERYLKPL QKETFLTQDE
LDVLFGNLTE MVEFQVEFLK TLEDGVRLVP DLEKLEKVDQ FKKVLFSLGG SFLYYADRFK
LYSAFCASHT KVPKVLVKAK TDTAFKAFLD AQNPKQQHSS TLESYLIKPI QRILKYPLLL
RELFALTDAE SEEHYHLDVA IKTMNKVASH INEMQKIHEE FGAVFDQLIA EQTGEKKEVA
DLSMGDLLLH TTVIWLNPPA SLGKWKKEPE LAAFVFKTAV VLVYKDGSKQ KKKLVGSHRL
SIYEDWDPFR FRHMIPTEAL QVRALASADA EANAVCEIVH VKSESEGRPE RVFHLCCSSP
ESRKDFLKAV HSILRDKHRR QLLKTESLPS SQQYVPFGGK RLCALKGARP AMSRAVSAPS
KSLGRRRRRL ARNRFTIDSD AVSASSPEKE SQQPPGGGDT DRWVEEQFDL AQYEEQDDIK
ETDILSDDDE FCESVKGASV DRDLQERLQA TSISQRERGR KTLDSHASRM AQLKKQAALS
GINGGLESAS EEVIWVRRED FAPSRKLNTE I*
mutated AA sequence MGNAESQHVE HEFYGEKHAS LGRKHTSRSL RLSHKTRRTR HASSGKVIHR NSEVSTRSSS
TPSIPQSLAE NGLEPFSQDG TLEDFGSPIW VDRVDMGLRP VSYTDSSVTP SVDSSIVLTA
ASVQSMPDTE ESRLYGDDAT YLAEGGRRQH SYTSNGPTFM ETASFKKKRS KSADIWREDS
LEFSLSDLSQ EHLTSNEEIL GSAEEKDCEE ARGMETRASP RQLSTCQRAN SLGDLYAQKN
SGVTANRGPG SKFAGYCRNL VSDIPNLANH KMPPAAAEET PPYSNYNTLP CRKSHCLSEG
ATNPQISHSN SMQGRRAKTT QDVNAGEGSE FADSGIEGAT TDTDLLSRRS NATNSSYSPT
TGRAFVGSDS GSSSTGDAAR QGVYENFRRE LEMSTTNSES LEEAGSAHSD EQSSGTLSSP
GQSDILLTAA QGTVRKAGAL AVKNFLVHKK NKKVESATRR KWKHYWVSLK GCTLFFYESD
GRSGIDHNSI PKHAVWVENS IVQAVPEHPK KDFVFCLSNS LGDAFLFQTT SQTELENWIT
AIHSACATAV ARHHHKEDTL RLLKSEIKKL EQKIDMDEKM KKMGEMQLSS VTDSKKKKTI
LDQIFVWEQN LEQFQMDLFR FRCYLASLQG GELPNPKRLL AFASRPTKVA MGRLGIFSVS
SFHALVAART GETGVRRRTQ AMSRSASKRR SRFSSLWGLD TTSKKKQGRP SINQREKEVV
LPNVHQHNPD CDIWVHEYFT PSWFCLPNNQ PALTVVRPGD TARDTLELIC KLYKEIEICP
KVTQSIHIEK SDTAADTYGF SLSSVEEDGI RRLYVNSVKE TGLASKKGLK AGDEILEINN
RAADALNSSM LKDFLSQPSL GLLVRTYPEL EEGVELLESP PHRVDGPADL GESPLAFLTS
NPGHSLCSEQ GSSAETAPEE TEGPDLESSD ETDHSSKSTE QVAAFCRSLH EMNPSDQSPS
PQDSTGPQLA TMRQLSDADK LRKVICELLE TERTYVKDLN CLMERYLKPL QKETFLTQDE
LDVLFGNLTE MVEFQVEFLK TLEDGVRLVP DLEKLEKVDQ FKKVLFSLGG SFLYYADRFK
LYSAFCASHT KVPKVLVKAK TDTAFKAFLD AQNPKQQHSS TLESYLIKPI QRILKYPLLL
RELFALTDAE SEEHYHLDVA IKTMNKVASH INEMQKIHEE FGAVFDQLIA EQTGEKKEVA
DLSMGDLLLH TTVIWLNPPA SLGKWKKEPE LAAFVFKTAV VLVYKDGSKQ KKKLVGSHRL
SIYEDWDPFR FRHMIPTEAL QVRALASADA EANAVCEIVH VKSESEGRPE RVFHLCCSSP
ESRKDFLKAV HSILRDKHRR QLLKTESLPS SQQYVPFGGK RLCALKGARP AMSRAVSAPS
KSLGRRRRRL ARNRFTIDSD AVSASSPEKE SQQPPGGGDT DRWVEEQFDL AQYEEQDDIK
ETDILSDDDE FCESVKGASV DRDLQERLQA TSISQRERGR KTLDSHASRM AQLKKQAALS
GINGGLESAS EEVIWVRRED FAPSRKLNTE I*
speed 0.13 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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